[ { "uniprot_canonical_ac": "O75364-1", "uniprot_id": [ { "id": "PITX3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75364", "type": "external" } ], "mass": 31832.0, "length": 302, "protein_name": "Pituitary homeobox 3", "gene_name": "PITX3", "organism": "Human", "refseq_name": "pituitary homeobox 3", "refseq_ac": [ { "id": "NP_005020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005020", "type": "external" } ], "gene_names_uniprotkb": "PITX3; PTX3", "gene_names_refseq": "ASGD1; ASMD; ASOD; CTPP4; CTRCT11; PITX3", "protein_names_uniprotkb": "Pituitary homeobox 3; Homeobox protein PITX3; Paired-like homeodomain transcription factor 3", "protein_names_refseq": "homeobox protein PITX3; pituitary homeobox 3", "tax_id": 9606, "disease": "anterior segment dysgenesis (Disease Ontology:DOID:0060648); anterior segment dysgenesis 1 (Disease Ontology:DOID:0080606); cataract 11 multiple types (Disease Ontology:DOID:0110249); cataract 9 multiple types (Disease Ontology:DOID:0110266); Parkinson's disease (Disease Ontology:DOID:14330); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:5309)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11994226;15286169;19413330;29405783;30816539;30894134;31310388;33912179;34345029;35051231;9620774", "class_list": "", "function": "A family with posterior polar cataract with a novel deletion mutation in PITX3., [RefSeq, PubMed]; Complementation of dopaminergic signaling by Pitx3-GDNF synergy induces dopamine secretion by multipotent Ntera2 cells., [RefSeq, PubMed]; Heterozygous mutation in the PITX3 gene is associated with ocular developmental defects., [RefSeq, PubMed]; Meta-analysis and HuGE review of genotype prevalence and gene-disease association. (HuGE Navigator) Review article, [RefSeq, PubMed]; The functional analysis of these 2 PITX3 mutations in the in vitro functional studies is an important complement and extension, which provides a potential interpretation for the pathogenesis and molecular mechanism of PITX3 mutations associated with CC., [RefSeq, PubMed]; The mutation c.797_814del, p.Ser266_Ala271del is a novel mutation in the conserved DNA-binding OAR domain of PITX3 that causes congenital cataract. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor NCOR2/SMRT which acts through histone deacetylases (HDACs) to keep promoters of NR4A2/NURR1 target genes in a repressed deacetylated state. Essential for the normal lens development and differentiation. Plays a critical role in the maintenance of mitotic activity of lens epithelial cells, fiber cell differentiation and in the control of the temporal and spatial activation of fiber cell-specific crystallins. Positively regulates FOXE3 expression and negatively regulates PROX1 in the anterior lens epithelium, preventing activation of CDKN1B/P27Kip1 and CDKN1C/P57Kip2 and thus maintains lens epithelial cells in cell cycle (By similarity)., [UniProtKB]; Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VZL2", "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:0000785 chromatin", "go_biological_process": "GO:0014014 negative regulation of gliogenesis;GO:1904935 positive regulation of cell proliferation in midbrain;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": 1.2, "record_id": "O75364-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75594-1", "uniprot_id": [ { "id": "PGRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75594", "type": "external" } ], "mass": 21731.0, "length": 196, "protein_name": "Peptidoglycan recognition protein 1", "gene_name": "PGLYRP1", "organism": "Human", "refseq_name": "peptidoglycan recognition protein 1 precursor", "refseq_ac": [ { "id": "NP_005082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005082", "type": "external" } ], "gene_names_uniprotkb": "PGLYRP1; PGLYRP; PGRP; PRO1269; SBBI68; TNFSF3L", "gene_names_refseq": "PGLYRP1; PGLYRP; PGRP-S; PGRPS; PGRP; TAG7; TNFSF3L", "protein_names_uniprotkb": "Peptidoglycan recognition protein 1; PGRP-S; Peptidoglycan recognition protein short", "protein_names_refseq": "TNF superfamily, member 3 (LTB)-like (peptidoglycan recognition protein); peptidoglycan recognition protein 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:8993); (R-HSA-6798695); (R-HSA-6803157)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "11120840;11313366;11389039;11461926;11971875;12493837;12669421;12975309;13816;14506276;14739326;1522221;15229136;15769462;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19413330;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21247889;21787330;22262861;22327069;22455996;22701042;23302724;23426625;23650620;24219363;24256734;25075772;25461571;25595774;25596890;26148048;26183779;26654597;27089320;28977785;29083508;29557506;30713770;3286634;35344208;35367194;35580925;35628562;37529985;38393947;8692836;9523110;9665269;9707603;9756476", "class_list": "", "function": "Association of peptidoglycan recognition protein 1 to post-myocardial infarction and periodontal inflammation: A subgroup report from the PAROKRANK (Periodontal Disease and the Relation to Myocardial Infarction) study., [RefSeq, PubMed]; Identification as an N-acetylmuramoyl-l-alanine amidase and this function is conserved in prokaryotes, insects, and mammals, [RefSeq, PubMed]; Innate immunity protein that plays several important functions in antimicrobial and antitumor defense systems. Acts as a pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria and thus provides bactericidal activity (PubMed:9707603). Forms an equimolar complex with heat shock protein HSPA1A and induces programmed cell death through apoptosis and necroptosis in tumor cell lines by activating the TNFR1 receptor on the target cell membrane (PubMed:21247889, PubMed:26183779). In addition, acts in complex with the Ca(2+)-binding protein S100A4 as a chemoattractant able to induce lymphocyte movement (PubMed:26654597). Mechanistically, this complex acts as a ligand of the chemotactic receptors CCR5 and CXCR3 which are present on the cells of the immune system (PubMed:30713770). Also promotes the activation of lymphocytes that become able to kill virus-infected cells as well as tumor cells by modulating the spectrum of their target-cell specificity (PubMed:28977785, PubMed:29083508). Induction of cytotoxicity on monocyte surface requires interaction with TREM1 receptor (PubMed:25595774, PubMed:28977785)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; N-Terminal Peptide of PGLYRP1/Tag7 Is a Novel Ligand for TREM-1 Receptor. Publication Status: Online-Only, [RefSeq, PubMed]; TNF upregulates peptidoglycan recognition protein 1 in esophageal cancer cells to clear the path to its signaling: Making the ''enemy'' a friend., [RefSeq, PubMed]; The microglial innate immune protein PGLYRP1 mediates neuroinflammation and consequent behavioral changes., [RefSeq, PubMed]; Value of gingival crevicular fluid TREM-1, PGLYRP1, and IL-1beta levels during menopause., [RefSeq, PubMed]; Various types of human blood cells were tested for expression of the Tag7/PGRP-SA and TagL/PGRP-L proteins, which belong to the family of proteins possessing the lysozyme-like peptidoglycan recognition protein (PGRP) domain, [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": 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": "Q4VB36", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042834 peptidoglycan binding;GO:0008745 N-acetylmuramoyl-L-alanine amidase activity;GO:0008270 zinc ion binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0035580 specific granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0016045 detection of bacterium", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "O75594-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95397-1", "uniprot_id": [ { "id": "PKHA9_HUMAN", "url": "https://www.uniprot.org/uniprot/O95397", "type": "external" } ], "mass": 43539.0, "length": 391, "protein_name": "Putative protein PLEKHA9", "gene_name": "PLEKHA8P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PLEKHA8P1; HAW1053; PLEKHA9", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein PLEKHA9; Pleckstrin homology domain-containing family A member 8 pseudogene 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 10, "publication_id_list": "23481700;25645385;26154972;27920218;28228285;28904123;29393594;31844290;32357974;32387766", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:1902387 ceramide 1-phosphate binding;GO:1902388 ceramide 1-phosphate transfer activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035621 ER to Golgi ceramide transport;GO:0120009 intermembrane lipid transfer", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O95397-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01833-1", "uniprot_id": [ { "id": "PIGR_HUMAN", "url": "https://www.uniprot.org/uniprot/P01833", "type": "external" } ], "mass": 83284.0, "length": 764, "protein_name": "Polymeric immunoglobulin receptor", "gene_name": "PIGR", "organism": "Human", "refseq_name": "polymeric immunoglobulin receptor precursor", "refseq_ac": [ { "id": "NP_002635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002635", "type": "external" } ], "gene_names_uniprotkb": "PIGR", "gene_names_refseq": "PIGR", "protein_names_uniprotkb": "Polymeric immunoglobulin receptor; Hepatocellular carcinoma-associated protein TB6; PIgR; Poly-Ig receptor", "protein_names_refseq": "hepatocellular carcinoma associated protein TB6; poly-Ig receptor; polymeric immunoglobulin receptor precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5284); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;10229845;10809756;12150896;1355431;15004565;15084671;15530357;16335952;16543244;16740002;1682231;17074750;17975675;1859628;18780401;19079336;19139490;19159218;20030399;20068231;23090970;23650620;23662732;24190977;24715725;25946035;26374642;26375851;26791533;26853435;27452731;2920039;29393594;29557506;29632711;29671580;29741879;29786170;29789417;30192525;30237853;30429286;30524438;30833945;31092671;31154438;31611695;31844290;31848261;32029686;32029689;32125861;32157095;32350084;32357974;32897882;32983136;33717175;34185709;35051231;35580925;36241641;37074911;37467891;37789066;37897659;39066171;447737;6526384;8292260;8692836;9237679;9379029", "class_list": "", "function": "Expression of polymeric immunoglobulin receptor (PIGR) and the effect of PIGR overexpression on breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates selective transcytosis of polymeric IgA and IgM across mucosal epithelial cells. Binds polymeric IgA and IgM at the basolateral surface of epithelial cells. The complex is then transported across the cell to be secreted at the apical surface. During this process, a cleavage occurs that separates the extracellular (known as the secretory component) from the transmembrane segment., [UniProtKB, PubMed, PubMed, PubMed]; Polymeric immunoglobulin receptor (pIgR) in cancer. Review article, [RefSeq, PubMed]; Polymeric immunoglobulin receptor and galectin-3-binding protein are raised in biliary atresia: Reveals a proteomic-based study., [RefSeq, PubMed]; SARS-CoV-2 Accessory Protein ORF8 Targets the Dimeric IgA Receptor pIgR. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; Through its N-linked glycans ensures anchoring of secretory IgA (sIgA) molecules to mucus lining the epithelial surface to neutralize extracellular pathogens (PubMed:12150896). On its own (free form) may act as a non-specific microbial scavenger to prevent pathogen interaction with epithelial cells (PubMed:16543244)., [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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 324, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q68D81;Q8IZY7", "ec_number_list": [], "go_molecular_function": "GO:0001792 polymeric immunoglobulin receptor activity;GO:0004888 transmembrane signaling receptor activity;GO:0001790 polymeric immunoglobulin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome;GO:0035577 azurophil granule membrane", "go_biological_process": "GO:0002415 immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor;GO:0038093 Fc receptor signaling pathway;GO:0007165 signal transduction;GO:0007173 epidermal growth factor receptor signaling pathway;GO:0043113 receptor clustering", "synthesized_glycan_count": 0, "hit_score": 41.2, "record_id": "P01833-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48426-1", "uniprot_id": [ { "id": "PI42A_HUMAN", "url": "https://www.uniprot.org/uniprot/P48426", "type": "external" } ], "mass": 46225.0, "length": 406, "protein_name": "Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha", "gene_name": "PIP4K2A", "organism": "Human", "refseq_name": "phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2", "refseq_ac": [ { "id": "NP_001316991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316991", "type": "external" } ], "gene_names_uniprotkb": "PIP4K2A; PI5P4KA; PIP5K2A; PIP5K2", "gene_names_refseq": "PI5P4KA; PIP4K2A; PIP5K2A; PIP5KII-alpha; PIP5KIIA; PIPK", "protein_names_uniprotkb": "Phosphatidylinositol 5-phosphate 4-kinase type-2 alpha; 1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha; 2.7.1.149; Diphosphoinositide kinase 2-alpha; PI(5)P 4-kinase type II alpha; PI5P4Kalpha; PIP4KII-alpha; PIP5KIII; Phosphatidylinositol 5-Phosphate 4-Kinase; Phosphatidylinositol 5-phosphate 4-kinase type II alpha; PtdIns(4)P-5-kinase B isoform; PtdIns(4)P-5-kinase C isoform; PtdIns(5)P-4-kinase isoform 2-alpha", "protein_names_refseq": "1-phosphatidylinositol 5-phosphate 4-kinase 2-alpha; 1-phosphatidylinositol-4-phosphate kinase; 1-phosphatidylinositol-4-phosphate-5-kinase; PI(5)P 4-kinase type II alpha; PI5P4Kalpha; PIP4KII-alpha; PIP5KIII; PIP5KIIalpha; diphosphoinositide kinase 2-alpha; phosphatidylinositol 5-phosphate 4-kinase type II alpha; phosphatidylinositol 5-phosphate 4-kinase type-2 alpha isoform 2; phosphatidylinositol-4-phosphate 5-kinase, type II, alpha", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5305); (R-HSA-1660499); (R-HSA-6811555); (R-HSA-6811558); (R-HSA-8847453)", "pathway_count": 5, "publication_count": 164, "publication_id_list": "10194451;10224048;10508590;10555148;10559940;10593988;10698683;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;12859901;1325671;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16024799;16154996;16399794;16456541;16476736;16522682;16563698;16914545;16949365;16979564;17008356;17200115;17245604;17651088;17940011;18093523;18364242;18691976;18753295;19038970;19369195;19576174;19608861;19896968;20068231;20534812;20583997;21204784;22037487;22223895;22424782;22647598;23186163;23193159;23326584;23481700;23519112;23758345;24081551;24714562;24715725;25495341;25892735;26154972;26728094;26774281;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28649982;28832583;28904123;29242379;29353240;29393594;29493099;29557506;29632711;29769354;30315122;30379171;30410026;31091439;31154438;31217245;31844290;31848261;31998317;32130941;32157095;32218783;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33717175;33912179;34001596;34087483;34143546;34211107;34509645;34681036;34932366;35051231;35251023;35580925;36241641;36581221;36952466;37938771;38059827;40914422;7608176;7624799;7639683;7852364;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Association of PIP4K2A Polymorphisms with Alcohol Use Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the phosphorylation of phosphatidylinositol 5-phosphate (PtdIns5P) on the fourth hydroxyl of the myo-inositol ring, to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:23326584, PubMed:9367159). Has both ATP- and GTP-dependent kinase activities (PubMed:26774281). May exert its function by regulating the levels of PtdIns5P, which functions in the cytosol by increasing AKT activity and in the nucleus signals through ING2 (PubMed:18364242). May regulate the pool of cytosolic PtdIns5P in response to the activation of tyrosine phosphorylation (By similarity). Required for lysosome-peroxisome membrane contacts and intracellular cholesterol transport through modulating peroxisomal PtdIns(4,5)P2 level (PubMed:29353240). In collaboration with PIP4K2B, has a role in mediating autophagy in times of nutrient stress (By similarity). Required for autophagosome-lysosome fusion and the regulation of cellular lipid metabolism (PubMed:31091439). May be involved in thrombopoiesis, and the terminal maturation of megakaryocytes and regulation of their size (By similarity). Negatively regulates insulin signaling through a catalytic-independent mechanism (PubMed:31091439). PIP4Ks interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population., [RefSeq, PubMed]; Metabolic Enzyme SLC27A5 Regulates PIP4K2A pre-mRNA Splicing as a Noncanonical Mechanism to Suppress Hepatocellular Carcinoma Metastasis., [RefSeq, PubMed]; Pharmacological inhibition of PI5P4Kalpha/beta disrupts cell energy metabolism and selectively kills p53-null tumor cells. Erratum:[Proc Natl Acad Sci U S A. 2021 Nov 23;118(47):e2118029118. doi: 10.1073/pnas.2118029118. PMID: 34789578], [RefSeq, PubMed]; Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]., [RefSeq]; Thermal proteome profiling identifies PIP4K2A and ZADH2 as off-targets of Polo-like kinase 1 inhibitor volasertib., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ66;B4DGX2;D3DRV1;P53807;Q5VUX3", "ec_number_list": [ { "id": "2.7.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.68", "type": "external" }, { "id": "2.7.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.149", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0016309 1-phosphatidylinositol-5-phosphate 4-kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0010506 regulation of autophagy;GO:0035855 megakaryocyte development;GO:2000786 positive regulation of autophagosome assembly;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P48426-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57054-1", "uniprot_id": [ { "id": "PIGP_HUMAN", "url": "https://www.uniprot.org/uniprot/P57054", "type": "external" } ], "mass": 18089.0, "length": 158, "protein_name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit P", "gene_name": "PIGP", "organism": "Human", "refseq_name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2", "refseq_ac": [ { "id": "NP_001307409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307409", "type": "external" } ], "gene_names_uniprotkb": "PIGP; DCRC; DSCR5; DSCRC; NPD010", "gene_names_refseq": "DCRC-S; DCRC; DEE55; DSCR5; DSRC; EIEE55; PIG-P; PIGP", "protein_names_uniprotkb": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit P; Down syndrome critical region protein 5; Down syndrome critical region protein C; PIG-P; Phosphatidylinositol-glycan biosynthesis class P protein", "protein_names_refseq": "Down syndrome critical region gene 5; Down syndrome critical region protein 5; Down syndrome critical region protein C; phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2; phosphatidylinositol N-acetylglucosaminyltransferase subunit P; phosphatidylinositol glycan, class P; phosphatidylinositol-glycan biosynthesis class P protein; phosphatidylinositol-n-acetylglucosaminyltranferase subunit P; phosphatidylinositol-n-acetylglucosaminyltranferase subunit", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); withdrawal disorder (Disease Ontology:DOID:0060001); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); developmental and epileptic encephalopathy 55 (Disease Ontology:DOID:0080283); gastric ulcer (Disease Ontology:DOID:10808); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); cancer (Disease Ontology:DOID:162); colon adenocarcinoma (Disease Ontology:DOID:234); morphine dependence (Disease Ontology:DOID:2560); endometrial adenocarcinoma (Disease Ontology:DOID:2870); endometrial carcinoma (Disease Ontology:DOID:2871); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); ureteral obstruction (Disease Ontology:DOID:5199); schizophrenia (Disease Ontology:DOID:5419); pulmonary hypertension (Disease Ontology:DOID:6432); cocaine abuse (Disease Ontology:DOID:809); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:51227); (R-HSA-162710)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10069808;10089216;10814524;10907851;10944123;11226175;11237011;11331941;14517336;14742432;15623507;15632136;15635094;15720390;16162815;19054851;23481700;25892735;27920218;28218747;28228285;28334793;28446606;28832583;29242379;29769354;29789417;30315122;30410026;31092671;31139695;31217245;31530632;31611695;31844290;31937595;31998317;32042915;32157095;32161166;32357974;32502341;32983136;33141586;33298915;33691108;33717175;33968037;34211107;34932366;35051231;35251023;37125481;8861954;8900170;9463366", "class_list": "glycogene;glycosyltransferase", "function": "Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome., [RefSeq, PubMed]; Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis., [UniProtKB, PubMed, PubMed, PubMed]; Results in mouse suggest that this is the only gene from the Down Syndrome Critical Region expressed in the developing tongue and that the encoded protein may be involved in pathophysiology of tongue malformation seen in Down syndrome., [RefSeq, PubMed]; This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 219, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 22, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DH71;B2RB18;B2RE99;B5BU92;D3DSG7;J3KR75;Q53Y28;Q96KI1;Q9NZA6", "ec_number_list": [], "go_molecular_function": "GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P57054-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13018-1", "uniprot_id": [ { "id": "PLA2R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13018", "type": "external" } ], "mass": 168600.0, "length": 1463, "protein_name": "Secretory phospholipase A2 receptor", "gene_name": "PLA2R1", "organism": "Human", "refseq_name": "secretory phospholipase A2 receptor isoform 2 precursor", "refseq_ac": [ { "id": "NP_001007268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007268", "type": "external" } ], "gene_names_uniprotkb": "PLA2R1; CLEC13C", "gene_names_refseq": "CLEC13C; PLA2-R; PLA2G1R; PLA2IR; PLA2R1; PLA2R", "protein_names_uniprotkb": "Secretory phospholipase A2 receptor; 180 kDa secretory phospholipase A2 receptor; C-type lectin domain family 13 member C; M-type receptor; PLA2-R; PLA2R", "protein_names_refseq": "180 kDa secretory phospholipase A2 receptor; C-type lectin domain family 13 member C; M-type receptor; phospholipase A2 receptor 1, 180kDa; phospholipase A2 receptor 1, 180kD; secretory phospholipase A2 receptor isoform 2 precursor; secretory phospholipase A2 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:22925); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483166)", "pathway_count": 7, "publication_count": 114, "publication_id_list": "10085124;10092647;10196188;10336645;10358058;10455175;10506173;10553003;10681567;11031251;11112443;11788596;11830583;12063250;12150957;12161451;12359733;12522102;12963729;14573790;14709560;15367102;15485873;15611272;15695510;15863501;15944408;1618844;16243729;16460752;16495223;16617059;16620771;16704971;16818490;16864775;17028579;17101204;17170135;17182612;17707131;18094042;18195019;18238778;18287005;18458083;18614531;18718904;18772128;18781350;19019078;1904318;19336658;19351971;19501189;19554302;19666841;20025994;20705608;20805699;21173190;21220512;21515882;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23345538;23807634;23934110;24966474;25288605;25335547;25645385;26206935;26463208;26503625;26711011;2925608;2925633;30429286;31848261;32488085;32938616;33968037;3458202;35051231;35858348;36241641;36549363;37510247;38454495;38836837;38897568;7060561;7721806;7821823;7925459;8083230;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9417066;9461603;9481783;9582313;9705332", "class_list": "glycogene", "function": "Ectodomain shedding of PLA2R1 is mediated by the metalloproteases ADAM10 and ADAM17., [RefSeq, PubMed]; Organelle resolved proteomics uncovers PLA2R1 as a novel cell surface marker required for chordoma growth. Publication Status: Online-Only, [RefSeq, PubMed]; Phospholipid metabolism-related genotypes of PLA2R1 and CERS4 contribute to nonobese MASLD. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for secretory phospholipase A2 (sPLA2). Acts as a receptor for phospholipase sPLA2-IB/PLA2G1B but not sPLA2-IIA/PLA2G2A. Also able to bind to snake PA2-like toxins. Although its precise function remains unclear, binding of sPLA2 to its receptor participates in both positive and negative regulation of sPLA2 functions as well as clearance of sPLA2. Binding of sPLA2-IB/PLA2G1B induces various effects depending on the cell type, such as activation of the mitogen-activated protein kinase (MAPK) cascade to induce cell proliferation, the production of lipid mediators, selective release of arachidonic acid in bone marrow-derived mast cells. In neutrophils, binding of sPLA2-IB/PLA2G1B can activate p38 MAPK to stimulate elastase release and cell adhesion. May be involved in responses in pro-inflammatory cytokine productions during endotoxic shock. Also has endocytic properties and rapidly internalizes sPLA2 ligands, which is particularly important for the clearance of extracellular sPLA2s to protect their potent enzymatic activities. The soluble secretory phospholipase A2 receptor form is circulating and acts as a negative regulator of sPLA2 functions by blocking the biological functions of sPLA2-IB/PLA2G1B (PubMed:15611272, PubMed:7721806). In podocytes, binding of sPLA2-IB/PLA2G1B can regulate podocyte survival and glomerular homeostasis (PubMed:25335547)., [UniProtKB, PubMed, PubMed, PubMed]; Single nucleotide polymorphisms in subjects' PLA2R gene are associated with the risk of developing idiopathic membranous nephropathy. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Role of PLA2R in Primary Membranous Nephropathy: Do We Still Need a Kidney Biopsy? Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 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": 11, "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": 11, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 11, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1852, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "B2RTU9;D3DPB1;Q13019;Q15095;Q53R45;Q53RR7", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0030246 carbohydrate binding;GO:0019834 phospholipase A2 inhibitor activity;GO:0043274 phospholipase binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex", "go_biological_process": "GO:1900139 negative regulation of arachidonate secretion;GO:0001819 positive regulation of cytokine production;GO:0006898 receptor-mediated endocytosis;GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator;GO:0072593 reactive oxygen species metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q13018-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15165-2", "uniprot_id": [ { "id": "PON2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15165", "type": "external" } ], "mass": 39381.0, "length": 354, "protein_name": "Serum paraoxonase/arylesterase 2", "gene_name": "PON2", "organism": "Human", "refseq_name": "serum paraoxonase/arylesterase 2 isoform 2", "refseq_ac": [ { "id": "NP_001018171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018171", "type": "external" } ], "gene_names_uniprotkb": "PON2", "gene_names_refseq": "PON2", "protein_names_uniprotkb": "Serum paraoxonase/arylesterase 2; 3.1.1.2; 3.1.1.81; A-esterase 2; Aromatic esterase 2; PON 2; Serum aryldialkylphosphatase 2", "protein_names_refseq": "A-esterase 2; PON 2; aromatic esterase 2; paraoxonase nirs; serum aryldialkylphosphatase 2; serum paraoxonase/arylesterase 2 isoform 2; serum paraoxonase/arylesterase 2", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); familial hypercholesterolemia (Disease Ontology:DOID:13810); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); vascular dementia (Disease Ontology:DOID:8725); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5445); (R-HSA-2142688)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;10549853;11115402;11579088;15772423;19082953;19159218;24190977;25576301;25645385;25880248;25892735;26992070;27397612;27862975;28228285;28510447;28832583;28904123;29242379;29331515;29508533;29557506;29741879;29769354;29789417;3006030;30315122;30484775;30779550;31154438;3118366;31530632;3164719;31844290;31848261;32157095;32161166;32350084;32357974;32938616;33214551;33298915;33592498;33717175;33912179;34087483;34171305;34357683;34932366;35051231;35289036;35580925;36010968;36215666;36241641;36284347;36581221;36653584;36840500;36897549;37074911;37938771;38397445;38893310;39894887;40596516;6816802;8428933;8661009;9329371;9443862;9714608", "class_list": "", "function": "Capable of hydrolyzing lactones and a number of aromatic carboxylic acid esters. Has antioxidant activity. Is not associated with high density lipoprotein. Prevents LDL lipid peroxidation, reverses the oxidation of mildly oxidized LDL, and inhibits the ability of MM-LDL to induce monocyte chemotaxis., [UniProtKB, PubMed, PubMed]; Contribution of the Paraoxonase-2 Enzyme to Cancer Cell Metabolism and Phenotypes. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Interactome of Paraoxonase PON2 Reveals New Pathways for Tumor Growth Regulation., [RefSeq, PubMed]; PON2 ameliorates Ang II-induced cardiomyocyte injury by targeting the CANX/NOX4 signaling pathway., [RefSeq, PubMed]; Paraoxonase-2 is upregulated in triple negative breast cancer and contributes to tumor progression and chemoresistance., [RefSeq, PubMed]; The Human Paraoxonase 2: An Optimized Procedure for Refolding and Stabilization Facilitates Enzyme Analyses and a Proteomics Approach. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 11, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A4D1H7;B2RCP9;B4DJD5;O15114;O15115;O75856;Q5FBX7;Q86YL0", "ec_number_list": [ { "id": "3.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.2", "type": "external" }, { "id": "3.1.1.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.81", "type": "external" }, { "id": "3.1.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.8.1", "type": "external" } ], "go_molecular_function": "GO:0102007 acyl-L-homoserine-lactone lactonohydrolase activity;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0004064 arylesterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0009636 response to toxic substance;GO:1901335 lactone catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q15165-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4KWH8-1", "uniprot_id": [ { "id": "PLCH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4KWH8", "type": "external" } ], "mass": 189223.0, "length": 1693, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1", "gene_name": "PLCH1", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform a", "refseq_ac": [ { "id": "NP_001124432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124432", "type": "external" } ], "gene_names_uniprotkb": "PLCH1; KIAA1069; PLCL3", "gene_names_refseq": "HPE14; PLC eta 1; PLC-L3; PLCH1; PLCL3", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1; 3.1.4.11; PLC-L3; PLC-eta-1; Phosphoinositide phospholipase C-eta-1; Phospholipase C-eta-1; Phospholipase C-like protein 3", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1 isoform a; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-1; PLC-eta-1; phosphoinositide phospholipase C-eta-1; phospholipase C-eta1a; phospholipase C-eta1b; phospholipase C-like 3; phospholipase C-like protein 3", "tax_id": 9606, "disease": "holoprosencephaly (Disease Ontology:DOID:4621); holoprosencephaly 14 (MONDO:MONDO:0030886)", "pathway": " (hsa:23007); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10593988;10866302;11022047;11022048;11042108;11118617;11237011;11909533;12223481;12747803;1333955;15037625;15140260;15316017;15474001;15579586;15583837;15702972;15790568;16107206;1644792;1718960;19179337;19913121;20628086;22658813;24123053;2550068;26992070;27089467;28411811;2841328;29242379;30379171;31530632;31844290;32350084;32387766;33298915;33820834;33912179;33968037;34087483;34185709;35051231;35154160;39894887;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9360711;9430698;9593664", "class_list": "", "function": "A molecular model of the PLCeta2 EF-hand domain, constructed based upon the structure of calmodulin, suggested both EF-loops may participate in Ca(2+) -binding., [RefSeq, PubMed]; High fertilization (56.06%) and pregnancy (41.7%) rates accomplished in this study following ICSI-AOA indicated that expression profiles of PLCzeta, PAWP, and TR-KIT were low in globozoospermic individuals, [RefSeq, PubMed]; Molecular cloning of PLC-eta1 and PLC-eta2, [RefSeq, PubMed]; Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]., [RefSeq]; The PLCH1 rs181696 single-nucleotide polymorphism was strongly associated with an increased risk of squamous cell carcinoma., [RefSeq, PubMed]; The identification of a novel PLC isoform in the brains of human and mouse, named PLC-eta, which contains the conserved pleckstrin homology domain, X and Y domains for catalytic activity and the C2 domain., [RefSeq, PubMed]; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes., [UniProtKB, 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": 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": 80, "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": "Q29RV9;Q4KWH9;Q68CN0;Q86XK4;Q9H9U2;Q9UPT3", "ec_number_list": [ { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" } ], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0051209 release of sequestered calcium ion into cytosol;GO:0048015 phosphatidylinositol-mediated signaling;GO:0046488 phosphatidylinositol metabolic process;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q4KWH8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z412-1", "uniprot_id": [ { "id": "PEX26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z412", "type": "external" } ], "mass": 33898.0, "length": 305, "protein_name": "Peroxisome assembly protein 26", "gene_name": "PEX26", "organism": "Human", "refseq_name": "peroxisome assembly protein 26 isoform a", "refseq_ac": [ { "id": "NP_001121121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121121", "type": "external" } ], "gene_names_uniprotkb": "PEX26", "gene_names_refseq": "PBD7A; PBD7B; PEX26M1T; PEX26; Pex26pM1T", "protein_names_uniprotkb": "Peroxisome assembly protein 26; Peroxin-26", "protein_names_refseq": "peroxin-26; peroxisome assembly protein 26 isoform a; peroxisome assembly protein 26; peroxisome biogenesis disorder, complementation group 8; peroxisome biogenesis disorder, complementation group A; peroxisome biogenesis factor 26", "tax_id": 9606, "disease": "peroxisome biogenesis disorder 7A (Disease Ontology:DOID:0080482); Peroxisome biogenesis disorder 7B (Disease Ontology:DOID:0081436)", "pathway": " (hsa:55670); (R-HSA-9033241); (R-HSA-9603798)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10022913;10430017;10562279;10673331;10704444;10737800;11101887;11390669;11402059;11453642;11546814;11590176;11781871;11883941;11931631;12456682;12559034;12578380;12717447;12751901;12851857;12885776;12924628;14709540;15007061;15545321;15713480;15781447;15858711;16257970;16280322;16763195;16791427;16854980;16895967;16980692;17007944;17069900;17726030;18174172;18359941;18712838;18782765;19105186;19197237;19208625;19584060;19632994;20178365;20531392;20554521;21102411;21362118;21554508;21976670;21980954;22002062;22057399;22371489;22624858;22747494;23460677;23628762;23963456;24235149;24714562;24865970;25016021;25062251;25418920;25517356;25538232;25576301;25854684;26086376;26138649;26220973;26344566;26728094;26777132;26811146;26929215;27597759;27600516;27862975;27920218;28228285;28281558;28325759;28514659;28521612;28611990;28765278;28787099;28832583;28904123;29393594;29557506;29632046;29786170;30315122;31154438;31217245;31530632;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33912179;33912394;34074205;34087483;34171305;35051231;37957408;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9418908;9539740;9653144;9668159;9837948", "class_list": "", "function": "Degree of temperature sensitivity in pex26 cell lines is predictive of the clinical phenotype in patients with PEX26 deficiency, [RefSeq, PubMed]; PEX26 Functions as a Metastasis Suppressor in Colorectal Cancer., [RefSeq, PubMed]; PEX26 deficiency impairs peroxisomal import of both PTS1- and PTS2-targeted matrix proteins. It undergoes alternative splicing to produce several splice forms, including PEX26-delta, which rescues peroxisome biogenesis in PEX26-deficient cells., [RefSeq, PubMed]; Peroxisomal docking factor that anchors PEX1 and PEX6 to peroxisome membranes (PubMed:12717447, PubMed:12851857, PubMed:16257970, PubMed:16763195, PubMed:16854980, PubMed:21362118). PEX26 is therefore required for the formation of the PEX1-PEX6 AAA ATPase complex, a complex that mediates the extraction of the PEX5 receptor from peroxisomal membrane (PubMed:12717447, PubMed:12851857, PubMed:16257970, PubMed:16763195, PubMed:16854980, PubMed:21362118)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Silencing PEX26 as an unconventional mode to kill drug-resistant cancer cells and forestall drug resistance., [RefSeq, PubMed]; This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F6UBB5;Q7Z413;Q7Z414;Q7Z415;Q7Z416;Q96B12;Q9NWQ0;Q9NXU0", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0044877 protein-containing complex binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:0016558 protein import into peroxisome matrix;GO:0022615 protein to membrane docking;GO:0045046 protein import into peroxisome membrane;GO:0016562 protein import into peroxisome matrix, receptor recycling", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q7Z412-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z443-1", "uniprot_id": [ { "id": "PK1L3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z443", "type": "external" } ], "mass": 195894.0, "length": 1732, "protein_name": "Polycystin-1-like protein 3", "gene_name": "PKD1L3", "organism": "Human", "refseq_name": "polycystin-1-like protein 3 precursor", "refseq_ac": [ { "id": "NP_853514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853514", "type": "external" } ], "gene_names_uniprotkb": "PKD1L3", "gene_names_refseq": "PKD1L3", "protein_names_uniprotkb": "Polycystin-1-like protein 3; PC1-like 3 protein; Polycystic kidney disease protein 1-like 3; Polycystin-1L3", "protein_names_refseq": "PC1-like 3 protein; polycystic kidney disease 1-like 3; polycystic kidney disease protein 1-like 3; polycystin-1-like protein 3 precursor; polycystin-1-like protein 3; polycystin-1L3", "tax_id": 9606, "disease": "autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898)", "pathway": " (hsa:342372)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "12782129;19464260;19812697;21883212;22544926;23212381;25820328;26066678;29393594;29557506;32387766;32488085;32983136;33392160;33968037;35051231;35289036;36010968", "class_list": "", "function": "Among the three gustatory regions innervated by peripheral gustatory neurons in the geniculate ganglion, transgenic Pkd1l3 is expressed in the foliate papillae, not in the fungiform papillae or palate., [RefSeq, PubMed]; Functions as a channel-forming subunit in an acid-sensing heteromeric complex formed by PKD1L3 and TRPP3, [RefSeq, PubMed]; Genes are mapped to chromosomes and gene structures are characterized; protein structure is predicted and contains strong ion channel signature motifs that suggest their possible function as components of cation channel pores Erratum:[Genomics. 2003 Oct;82(4):498-500], [RefSeq, PubMed]; Our study identified C1 as the first PKD2L1 domain essential for both PKD2L1 trimerization and channel function, and suggest that PKD2L1 and PKD2L1/PKD1L3 channels share the PKD2L1 trimerization process. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+) (PubMed:19464260, PubMed:23212381). Also shows permeability towards NA(1+), K(+) and Mg(2+) (PubMed:23212381). Heterotetrameric complex channel is activated by external low pH and Ca(2+), but opens only when the extracellular pH rises again and after the removal of acid stimulus (PubMed:19464260, PubMed:23212381). May act as a sour taste receptor in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect (PubMed:19812697)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.[provided by RefSeq, Apr 2009]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0030246 carbohydrate binding;GO:0005227 calcium-activated cation channel activity;GO:0160128 pH-gated monoatomic ion channel activity", "go_cellular_component": "GO:0034703 cation channel complex;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0098655 monoatomic cation transmembrane transport;GO:0006812 monoatomic cation transport;GO:0070588 calcium ion transmembrane transport;GO:0050915 sensory perception of sour taste;GO:0050982 detection of mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q7Z443-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ21-1", "uniprot_id": [ { "id": "PHAR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ21", "type": "external" } ], "mass": 78211.0, "length": 702, "protein_name": "Phosphatase and actin regulator 4", "gene_name": "PHACTR4", "organism": "Human", "refseq_name": "phosphatase and actin regulator 4 isoform 1", "refseq_ac": [ { "id": "NP_001041648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041648", "type": "external" } ], "gene_names_uniprotkb": "PHACTR4; PRO2963", "gene_names_refseq": "PHACTR4; PPP1R124", "protein_names_uniprotkb": "Phosphatase and actin regulator 4", "protein_names_refseq": "phosphatase and actin regulator 4 isoform 1; protein phosphatase 1, regulatory subunit 124", "tax_id": 9606, "disease": "", "pathway": " (hsa:65979)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;15107502;16964243;17081983;17525332;18212344;18491316;18669648;18707149;18767875;19413330;19415658;19651622;19664995;20058876;20068231;21406692;23186163;23301498;23319639;24275569;24715725;25505266;28446606;28657654;28832583;28904123;29242379;29393594;29557506;29632046;29786170;30059200;30620550;31217245;31373491;31492838;31844290;32119511;32157095;32357974;32387766;32488085;32938616;32938750;32983136;33214551;33392160;33592498;33912179;33968037;34019948;34171305;35051231;35132862;35138101;35254053;35513511;35580925;36010968;36284347;37340703;37541260;38043109;38665916;38838015;39302247;39531497;39534244;40136647;40307207;41350704", "class_list": "", "function": "Data indicate that Phactr4 acts as a tumor suppressor that is deleted and mutant in several cancers., [RefSeq, PubMed]; Identification of PHACTR4 as A New Biomarker for Diabetic Nephropathy and Its Correlation with Glomerular Endothelial Dysfunction and Immune Infiltration., [RefSeq, PubMed]; Regulator of protein phosphatase 1 (PP1) required for neural tube and optic fissure closure, and enteric neural crest cell (ENCCs) migration during development. Acts as an activator of PP1 by interacting with PPP1CA and preventing phosphorylation of PPP1CA at 'Thr-320'. During neural tube closure, localizes to the ventral neural tube and activates PP1, leading to down-regulate cell proliferation within cranial neural tissue and the neural retina. Also acts as a regulator of migration of enteric neural crest cells (ENCCs) by activating PP1, leading to dephosphorylation and subsequent activation of cofilin (COF1 or COF2) and repression of the integrin signaling through the RHO/ROCK pathway (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The authors show that rat Phactr1 inhibits PP1 activity in vitro, and mouse Phactr4 coimmunoprecipitates with actin and PP1 in human cells., [RefSeq, PubMed]; This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "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": "A2APK6;B9ZVW0;D3DPM3;Q68DD4;Q6NUN6;Q8N384;Q9H395;Q9H6X0;Q9H8W6", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008157 protein phosphatase 1 binding;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030027 lamellipodium", "go_biological_process": "GO:0048484 enteric nervous system development;GO:0061386 closure of optic fissure;GO:0043085 positive regulation of catalytic activity;GO:0030036 actin cytoskeleton organization;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q8IZ21-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8J0-1", "uniprot_id": [ { "id": "PI4P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8J0", "type": "external" } ], "mass": 29179.0, "length": 262, "protein_name": "Putative inactive phosphatidylinositol 4-kinase alpha-like protein P1", "gene_name": "PI4KAP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PI4KAP1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative inactive phosphatidylinositol 4-kinase alpha-like protein P1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "29557506", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N8J0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC59-1", "uniprot_id": [ { "id": "PIWL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC59", "type": "external" } ], "mass": 109849.0, "length": 973, "protein_name": "Piwi-like protein 2", "gene_name": "PIWIL2", "organism": "Human", "refseq_name": "piwi-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001129193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129193", "type": "external" } ], "gene_names_uniprotkb": "PIWIL2; HILI", "gene_names_refseq": "CT80; HILI; PIWIL1L; PIWIL2; mili", "protein_names_uniprotkb": "Piwi-like protein 2; 3.1.26.-; CT80; Cancer/testis antigen 80", "protein_names_refseq": "cancer/testis antigen 80; piwi-like 2; piwi-like protein 2 isoform 1; piwi-like protein 2; piwil2-like protein; testicular tissue protein Li 141", "tax_id": 9606, "disease": "", "pathway": " (hsa:55124); (R-HSA-5601884)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "12906857;15944288;16377660;18922463;19683485;21193640;21465557;22233380;22424782;23056369;23826142;23980886;24656595;27869121;28903391;30484775;31844290;32157095;33141586;33774220;34738477;34768750;35051231;35182325;35494241;36153567;36284347", "class_list": "", "function": "A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Endoribonuclease that plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity (By similarity). Plays an essential role in meiotic differentiation of spermatocytes, germ cell differentiation and in self-renewal of spermatogonial stem cells (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). During piRNA biosynthesis, plays a key role in the piRNA amplification loop, also named ping-pong amplification cycle, by acting as a 'slicer-competent' piRNA endoribonuclease that cleaves primary piRNAs, which are then loaded onto 'slicer-incompetent' PIWIL4 (By similarity). PIWIL2 slicing produces a pre-miRNA intermediate, which is then processed in mature piRNAs, and as well as a 16 nucleotide by-product that is degraded (By similarity). Required for PIWIL4/MIWI2 nuclear localization and association with secondary piRNAs antisense (By similarity). Besides their function in transposable elements repression, piRNAs are probably involved in other processes during meiosis such as translation regulation (By similarity). Indirectly modulates expression of genes such as PDGFRB, SLC2A1, ITGA6, GJA7, THY1, CD9 and STRA8 (By similarity). When overexpressed, acts as an oncogene by inhibition of apoptosis and promotion of proliferation in tumors (PubMed:16377660). Represses circadian rhythms by promoting the stability and activity of core clock components BMAL1 and CLOCK by inhibiting GSK3B-mediated phosphorylation and ubiquitination-dependent degradation of these proteins (PubMed:28903391)., [UniProtKB, UniProtKB, PubMed, PubMed]; Lower Spermatozoal PIWI-LIKE 1 and 2 Transcript Levels Are Significantly Associated with Higher Fertilization Rates in IVF. Publication Status: Online-Only, [RefSeq, PubMed]; Multiple transcriptome analysis of Piwil2-induced cancer stem cells, including piRNAs, mRNAs and miRNAs reveals the mechanism of tumorigenesis and development., [RefSeq, PubMed]; Our study indicates that PIWIL2 does not play a role in carcinogenesis of human bladder carcinoma, [RefSeq, PubMed]; P-element Induced WImpy protein-like RNA-mediated gene silencing 2 regulates tumor cell progression, apoptosis, and metastasis in oral squamous cell carcinoma., [RefSeq, PubMed]; PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]., [RefSeq]; Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-XL pathway., [RefSeq, PubMed]; Structural basis for RNA 3'-end recognition by the PIWIL2 PAZ domain., [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": 2, "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": "A8K4S3;A8K8S5;B0AZN9;B0AZP2;B4DR22;E7ECA4;Q96SW6;Q9NW28", "ec_number_list": [ { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.1.1.386", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.386", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" } ], "go_molecular_function": "GO:0003729 mRNA binding;GO:0016787 hydrolase activity;GO:0046872 metal ion binding;GO:0004521 RNA endonuclease activity;GO:0034584 piRNA binding", "go_cellular_component": "GO:0010370 perinucleolar chromocenter;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0097433 dense body;GO:1990923 PET complex", "go_biological_process": "GO:2000767 positive regulation of cytoplasmic translation;GO:0007283 spermatogenesis;GO:0048511 rhythmic process;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8TC59-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCI5-1", "uniprot_id": [ { "id": "CMAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCI5", "type": "external" } ], "mass": 21973.0, "length": 191, "protein_name": "Ciliary microtubule-associated protein 3", "gene_name": "CIMAP3", "organism": "Human", "refseq_name": "ciliary microtubule-associated protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001287760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287760", "type": "external" } ], "gene_names_uniprotkb": "CIMAP3; C1orf88; PIFO", "gene_names_refseq": "C1orf88; CIMAP3; PIFO; pitchfork", "protein_names_uniprotkb": "Ciliary microtubule-associated protein 3; Protein pitchfork", "protein_names_refseq": "ciliary microtubule-associated protein 3 isoform 2; primary cilia formation; protein pitchfork", "tax_id": 9606, "disease": "", "pathway": " (hsa:128344)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "20643351;29632046;31154438", "class_list": "", "function": "During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in a cell cycle-dependent manner., [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": "D9J0A2;D9J0A3;Q4G0K4;Q52LJ6;Q5T5D5;Q5T5D6;Q8N310", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0031267 small GTPase binding;GO:0008092 cytoskeletal protein binding;GO:0019894 kinesin binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0031410 cytoplasmic vesicle;GO:0005802 trans-Golgi network;GO:0036064 ciliary basal body", "go_biological_process": "GO:0031344 regulation of cell projection organization;GO:0033674 positive regulation of kinase activity;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8TCI5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDX9-1", "uniprot_id": [ { "id": "PK1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDX9", "type": "external" } ], "mass": 315435.0, "length": 2849, "protein_name": "Polycystin-1-like protein 1", "gene_name": "PKD1L1", "organism": "Human", "refseq_name": "polycystin-1-like protein 1", "refseq_ac": [ { "id": "NP_612152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612152", "type": "external" } ], "gene_names_uniprotkb": "PKD1L1; PC1L1; PRO19563", "gene_names_refseq": "HTX8; PKD1L1; PRO19563", "protein_names_uniprotkb": "Polycystin-1-like protein 1; PC1-like 1 protein; Polycystic kidney disease protein 1-like 1; Polycystin-1L1", "protein_names_refseq": "PC1-like 1 protein; polycystic kidney disease 1 like 1; polycystic kidney disease protein 1-like 1; polycystin-1-like protein 1; polycystin-1L1", "tax_id": 9606, "disease": "visceral heterotaxy 8 (Disease Ontology:DOID:0051022)", "pathway": " (hsa:168507)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;11863367;12975309;15203210;19413330;20869035;24336289;25892735;27348301;27616478;28218747;29393594;29557506;31844290;32157095;32357974;32387766;33392160;34087483;35051231;36010968;38247840", "class_list": "", "function": "Component of a calcium-permeant ion channel formed by PKD1L2 and PKD1L1 in primary cilia, where it controls cilium calcium concentration, without affecting cytoplasmic calcium concentration, and regulates sonic hedgehog/SHH signaling and GLI2 transcription. The PKD1L1:PKD2L1 channel complex is mechanosensitive only at high pressures and is highly temperature sensitive. Also involved in left/right axis specification downstream of nodal flow by forming a complex with PKD2 in cilia to facilitate flow detection in left/right patterning. May function as a G-protein-coupled receptor., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; Identification of bi-allelic PKD1L1 mutations recapitulates previous findings regarding phenotypic consequences of loss of function of the orthologous genes in mice and medaka fish and further expands our understanding of genetic contributions to laterality defects in humans, [RefSeq, PubMed]; PKD1L1 Is Involved in Congenital Chylothorax. Publication Status: Online-Only, [RefSeq, PubMed]; The authors report that the human PKD2-L1 selectivity filter is partially selective to calcium ions (Ca(2+)) moving into the cell, but blocked by high internal Ca(2+)concentrations, a unique feature of this transient receptor potential (TRP) channel family member. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 22, "predicted_n_glycosites": 20, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 132, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWK1", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity", "go_cellular_component": "GO:0005929 cilium;GO:0016020 membrane;GO:0097730 non-motile cilium;GO:0034704 calcium channel complex;GO:0060170 ciliary membrane", "go_biological_process": "GO:0003127 detection of nodal flow;GO:0098609 cell-cell adhesion;GO:0070986 left/right axis specification;GO:0050982 detection of mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8TDX9-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEQ8-1", "uniprot_id": [ { "id": "PIGO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEQ8", "type": "external" } ], "mass": 118699.0, "length": 1089, "protein_name": "GPI ethanolamine phosphate transferase 3, catalytic subunit", "gene_name": "PIGO", "organism": "Human", "refseq_name": "GPI ethanolamine phosphate transferase 3, catalytic subunit isoform 2", "refseq_ac": [ { "id": "NP_001188413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188413", "type": "external" } ], "gene_names_uniprotkb": "PIGO; PRO1249", "gene_names_refseq": "HPMRS2; PIGO; hGPCR43", "protein_names_uniprotkb": "GPI ethanolamine phosphate transferase 3, catalytic subunit; 2.-.-.-; PIG-O; Phosphatidylinositol-glycan biosynthesis class O protein; hGPCR43", "protein_names_refseq": "GPI ethanolamine phosphate transferase 3, catalytic subunit isoform 2; GPI ethanolamine phosphate transferase 3, catalytic subunit; GPI ethanolamine phosphate transferase 3; phosphatidylinositol-glycan biosynthesis class O protein", "tax_id": 9606, "disease": "hyperphosphatasia with impaired intellectual development syndrome 2 (Disease Ontology:DOID:0070434)", "pathway": " (hsa:84720); (R-HSA-162710)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;10069808;10089216;10944123;11226175;11237011;12044878;12975309;14517336;14742432;15623507;15632136;15635094;15720390;16162815;16959974;22683086;23481700;24049131;24397554;24417746;24715725;25576301;25645385;25892735;26154972;26992070;27600516;27846572;28218747;28228285;28327575;28337824;28514659;28545593;28649982;28832583;28834231;28900819;28904123;29242379;29331515;29393594;29437277;29508533;29632046;29632711;29769354;30315122;30429286;30779550;30833945;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33912179;33936100;33968037;34087483;34171305;34405274;34509645;34561969;35051231;35132862;35318648;35494241;35580925;36010968;36241641;37340703;37938771;39302247;40307207;8861954;8900170;9463366", "class_list": "glycogene", "function": "Catalytic subunit of the ethanolamine phosphate transferase 3 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the third alpha-1,2-linked mannose of the a 2-acyl-6-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H6) intermediate to generate a a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H7) and participates in the tenth step of the glycosylphosphatidylinositol-anchor biosynthesis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Disease associated PIGO missense mutations resulted in decreased activity in vitro., [RefSeq, PubMed]; Novel PIGO mutations expand the clinical spectrum of PIGO abnormalities to include epileptic encephalopathy with mild elevation of alkaline phosphatase (ALP)., [RefSeq, PubMed]; PIGO deficiency shows variable phenotypes from infantile lethality to mild learning difficulties, [RefSeq, PubMed]; This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1521, "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": "B1AML3;Q6P154;Q6UX80;Q8TDS8;Q96CS9;Q9BVN9;Q9Y4B0", "ec_number_list": [ { "id": "2.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0051377 mannose-ethanolamine phosphotransferase activity;GO:0016772 transferase activity, transferring phosphorus-containing groups", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8TEQ8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVV4-2", "uniprot_id": [ { "id": "POF1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVV4", "type": "external" } ], "mass": 68065.0, "length": 589, "protein_name": "Protein POF1B", "gene_name": "POF1B", "organism": "Human", "refseq_name": "protein POF1B isoform 2", "refseq_ac": [ { "id": "NP_001294869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294869", "type": "external" } ], "gene_names_uniprotkb": "POF1B", "gene_names_refseq": "POF1B; POF2B; POF", "protein_names_uniprotkb": "Protein POF1B; Premature ovarian failure protein 1B", "protein_names_refseq": "premature ovarian failure protein 1B; premature ovarian failure, 1B; protein POF1B isoform 2; protein POF1B", "tax_id": 9606, "disease": "primary ovarian insufficiency 2B (Disease Ontology:DOID:0080859)", "pathway": " (hsa:79983)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "15459172;16773570;20068231;21940798;25084053;25576301;25892735;26374642;26992070;27862975;28832583;28904123;29557506;29632046;29769354;29789417;30315122;30397120;30784271;31154438;31844290;31848261;32157095;32387766;33717175;33912179;34171305;34357683;34423420;34707299;35051231;35580925;36215666;36284347;38665916", "class_list": "", "function": "A novel POF1B variant in a Chinese patient is associated with premature ovarian failure., [RefSeq, PubMed]; Our findings could not demonstrate any involvement of POF1B in premature ovarian failure GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; POF1B was restricted to granular layers in human healthy epidermis, whereas it largely increased in hyperproliferative human skin diseases, thus demonstrating the localization of POF1B also in desmosomes of multistratified epithelia., [RefSeq, PubMed]; Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development., [UniProtKB, PubMed, PubMed]; Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called 'POF1' and 'POF2' have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]., [RefSeq]; The POF1B candidate gene for premature ovarian failure regulates epithelial polarity, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2U5;Q5H9E9;Q5H9F0;Q8NG12;Q9H5Y2;Q9H738;Q9H744", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005884 actin filament;GO:0005912 adherens junction;GO:0005923 bicellular tight junction;GO:0030057 desmosome", "go_biological_process": "GO:0007015 actin filament organization;GO:0030036 actin cytoskeleton organization;GO:0070830 bicellular tight junction assembly;GO:0003382 epithelial cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8WVV4-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYR1-1", "uniprot_id": [ { "id": "PI3R5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYR1", "type": "external" } ], "mass": 97348.0, "length": 880, "protein_name": "Phosphoinositide 3-kinase regulatory subunit 5", "gene_name": "PIK3R5", "organism": "Human", "refseq_name": "phosphoinositide 3-kinase regulatory subunit 5 isoform 1", "refseq_ac": [ { "id": "NP_001136105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136105", "type": "external" } ], "gene_names_uniprotkb": "PIK3R5", "gene_names_refseq": "F730038I15Rik; FOAP-2; P101-PI3K; PIK3R5; p101", "protein_names_uniprotkb": "Phosphoinositide 3-kinase regulatory subunit 5; PI3-kinase p101 subunit; PI3-kinase regulatory subunit 5; Phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit; Protein FOAP-2; PtdIns-3-kinase p101; PtdIns-3-kinase regulatory subunit; p101-PI3K", "protein_names_refseq": "PI3-kinase p101 subunit; phosphatidylinositol 4,5-bisphosphate 3-kinase regulatory subunit; phosphoinositide 3-kinase regulatory subunit 5 isoform 1; protein FOAP-2; ptdIns-3-kinase p101", "tax_id": 9606, "disease": "ataxia-oculomotor apraxia 3 (Disease Ontology:DOID:0060557); colon cancer (Disease Ontology:DOID:219)", "pathway": " (hsa:23533); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1660499); (R-HSA-2219530); (R-HSA-389357); (R-HSA-392451); (R-HSA-6811558); (R-HSA-9027276); (R-HSA-9927354)", "pathway_count": 10, "publication_count": 216, "publication_id_list": "10026222;10191262;10194437;10194451;10224048;10455108;10469124;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11147812;11237011;11262396;11279162;11302699;11349134;11481033;11598010;11604140;11676921;11733541;11803464;11877430;11923287;12101241;12118066;12138205;12167717;12324459;12422219;12506011;12507995;12536145;12538664;12646134;12660731;12670391;12767043;12808147;12813055;12832405;12847086;1325671;14516276;14617813;14660569;15007255;15080793;15107860;15135396;15149544;15464023;15611065;15644415;15708849;15716355;15718470;15797027;15834429;15840652;15870016;16154996;16174766;16339315;16399794;16456541;16476736;16522682;16647110;16914545;16938345;16959974;16979564;17008356;17200115;17245604;17616532;17626883;17651088;18079394;18093523;18317450;18439422;18589439;18594509;18606717;1874735;18753295;18754654;18755892;18829560;18925875;18955485;19038970;19185485;19369195;19409513;19411071;19576174;19644473;19665053;19700402;19805105;19850008;19896968;19962665;20231295;20338997;20522708;20534812;20713702;21188471;21204784;21317208;21368164;21478295;21668414;21827948;21976531;21984976;21993680;22037487;22065524;22120714;22188813;22267732;22588880;22647598;22802530;23481700;23519112;23758345;24715725;25495341;25576301;25645385;25892735;26154972;26758079;27846572;27920218;28228285;2841328;28514659;28736554;28832583;29242379;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30429286;31217245;31844290;31848261;31937595;31998317;32387766;32938616;32983136;33141586;33298915;33493514;33717175;33912179;34187569;34211107;34561969;34775477;35051231;35580925;38720074;7608176;7624799;7637810;7744773;8246984;8617742;8621607;8645157;8657148;8673706;8681945;8723348;8769125;8986718;8990121;9028946;9094719;9113989;9211928;9286278;9295334;9334184;9367159;9428629;9438848;9514948;9516481;9524259;9593664;9660759;9660833;9736715;9768361;9811831;9830063;9895304", "class_list": "", "function": "Analysis of functional domains in the p101 regulatory subunit of phosphoinositide 3-kinase gamma, [RefSeq, PubMed]; G protein betagamma translocation to the Golgi apparatus activates MAPK via p110gamma-p101 heterodimers., [RefSeq, PubMed]; HCP5, as the sponge of miR-1291, facilitates AML cell proliferation and restrains apoptosis via increasing PIK3R5 expression. Publication Status: Online-Only, [RefSeq, PubMed]; P101 has a role in membrane recruitment and activation of PI3K gamma, [RefSeq, PubMed]; PIK3R5 genetic predictors of hypertension induced by VEGF-pathway inhibitors. Erratum:[Pharmacogenomics J. 2022 Mar;22(2):145. doi: 10.1038/s41397-021-00264-2. PMID: 34934177], [RefSeq, PubMed]; Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]., [RefSeq]; Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein-mediated activation of PIK3CG (By similarity)., [UniProtKB]; Targetable leukaemia dependency on noncanonical PI3Kgamma signalling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0LPH4;D3DTS3;Q5G936;Q5G938;Q5G939;Q8IZ23;Q9Y2Y2", "ec_number_list": [], "go_molecular_function": "GO:0031683 G-protein beta/gamma-subunit complex binding;GO:0046935 1-phosphatidylinositol-3-kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0043406 positive regulation of MAP kinase activity;GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "Q8WYR1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BK5-1", "uniprot_id": [ { "id": "PINX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BK5", "type": "external" } ], "mass": 37035.0, "length": 328, "protein_name": "PIN2/TERF1-interacting telomerase inhibitor 1", "gene_name": "PINX1", "organism": "Human", "refseq_name": "PIN2/TERF1-interacting telomerase inhibitor 1 isoform 2", "refseq_ac": [ { "id": "NP_001271285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271285", "type": "external" } ], "gene_names_uniprotkb": "PINX1; LPTL; LPTS", "gene_names_refseq": "Gno1; LPTL; LPTS; PINX1; Pxr1", "protein_names_uniprotkb": "PIN2/TERF1-interacting telomerase inhibitor 1; Liver-related putative tumor suppressor; Pin2-interacting protein X1; Protein 67-11-3; TRF1-interacting protein 1", "protein_names_refseq": "67-11-3 protein; PIN2-interacting protein 1; PIN2/TERF1-interacting telomerase inhibitor 1 isoform 2; TRF1-interacting protein 1; hepatocellular carcinoma-related putative tumor suppressor; liver-related putative tumor suppressor; pin2-interacting protein X1; protein 67-11-3", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:54984)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11003615;11237011;11701125;12107183;12439923;12508358;15044100;15381700;17198684;18202258;18669648;19117989;19265708;19393617;19553660;20068231;20573420;25576301;26033551;26375851;26992070;27600516;27847364;28649982;28832583;28834231;29242379;29493099;29508533;29557506;29632711;30026037;30379171;30429286;30779550;30833945;31154438;31254127;31844290;31998317;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33981976;34087483;34171305;34337078;34932366;35251023;35580925;36241641;36284347;37664923;40596516", "class_list": "", "function": "Association of the PINX1 Variant rs6984094, Which Lengthens Telomeres, with Systemic Lupus Erythematosus Susceptibility in Chinese Populations. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that liver-related putative tumor suppressor gene (LPTS) mutations occur in hepatocellular carcinoma but are infrequent and of little effect on the telomerase inhibitory function of the protein., [RefSeq, PubMed]; Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Over-expression of LPTS-L can induce hepatoma cells into crisis due to the reduction of telomerase activity., [RefSeq, PubMed]; PinX1-Promoted Autophagy Inhibits Cell Proliferation and Induces Cell Apoptosis by Inhibiting the NF-kappaB/p65 Signaling Pathway in Nasopharyngeal Carcinoma., [RefSeq, PubMed]; Role in rRNA and small nucleolar RNA maturation, not in telomere elongation inhibition, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R9B1;Q548A5;Q6QWG9;Q7Z7J8;Q96QD7;Q9HBU7;Q9NWW2", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0070034 telomerase RNA binding;GO:0010521 telomerase inhibitor activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005819 spindle;GO:0000776 kinetochore;GO:0000228 nuclear chromosome", "go_biological_process": "GO:1902570 protein localization to nucleolus;GO:0008285 negative regulation of cell population proliferation;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0070198 protein localization to chromosome, telomeric region;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96BK5-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99453-1", "uniprot_id": [ { "id": "PHX2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99453", "type": "external" } ], "mass": 31621.0, "length": 314, "protein_name": "Paired mesoderm homeobox protein 2B", "gene_name": "PHOX2B", "organism": "Human", "refseq_name": "paired mesoderm homeobox protein 2B", "refseq_ac": [ { "id": "NP_003915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003915", "type": "external" } ], "gene_names_uniprotkb": "PHOX2B; PMX2B", "gene_names_refseq": "CCHS; NBLST2; NBPhox; PHOX2B; PMX2B", "protein_names_uniprotkb": "Paired mesoderm homeobox protein 2B; NBPhox; Neuroblastoma Phox; PHOX2B homeodomain protein; Paired-like homeobox 2B", "protein_names_refseq": "PHOX2B homeodomain protein; neuroblastoma Phox; neuroblastoma paired-type homeobox protein; paired like homeobox2B; paired mesoderm homeobox 2b; paired mesoderm homeobox protein 2B", "tax_id": 9606, "disease": "congenital central hypoventilation syndrome (Disease Ontology:DOID:0060731); neuroblastoma (Disease Ontology:DOID:769); colorectal cancer (Disease Ontology:DOID:9256); neuroblastoma, susceptibility to, 2 (MONDO:MONDO:0700041)", "pathway": " (hsa:8929)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10395798;11034547;12640453;14566559;15024693;15657873;16691592;29557506;34185709;34752187;35763016;36815592;37938771;38171556;9039501", "class_list": "", "function": "Combined analysis of PHOX2B at two time points and its value for further risk stratification in high-risk neuroblastoma., [RefSeq, PubMed]; Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element., [UniProtKB]; Spectrum of paired-like homeobox 2b immunoexpression in pediatric brain tumors with embryonal morphology., [RefSeq, PubMed]; The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]., [RefSeq]; The expression of PHOX2B in bone marrow and peripheral blood predicts adverse clinical outcome in non-high-risk neuroblastoma., [RefSeq, PubMed]; [Study of GCN repeats of PHOX2B gene among individuals from southwest China and diagnosis of two patients with Congenital central hypoventilation syndrome]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "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": "Q6PJD9", "ec_number_list": [], "go_molecular_function": "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0003360 brainstem development;GO:0048484 enteric nervous system development;GO:0048483 autonomic nervous system development;GO:0021723 medullary reticular formation development;GO:0021934 hindbrain tangential cell migration", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q99453-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRB3-1", "uniprot_id": [ { "id": "PIGQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRB3", "type": "external" } ], "mass": 84082.0, "length": 760, "protein_name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q", "gene_name": "PIGQ", "organism": "Human", "refseq_name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2", "refseq_ac": [ { "id": "NP_004195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004195", "type": "external" } ], "gene_names_uniprotkb": "PIGQ; GPI1", "gene_names_refseq": "DEE77; EIEE77; GPI1; GPIBD19; MCAHS4; PIGQ; c407A10.1", "protein_names_uniprotkb": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q; N-acetylglucosamyl transferase component GPI1; PIG-Q; Phosphatidylinositol-glycan biosynthesis class Q protein", "protein_names_refseq": "N-acetylglucosaminyl transferase component Gpi1; N-acetylglucosamyl transferase component GPI1; PIG-Q; c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component)); phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2; phosphatidylinositol N-acetylglucosaminyltransferase subunit Q; phosphatidylinositol glycan, class Q; phosphatidylinositol-glycan biosynthesis class Q protein", "tax_id": 9606, "disease": "multiple congenital anomalies-hypotonia-seizures syndrome 4 (Disease Ontology:DOID:0112213)", "pathway": " (hsa:9091)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10944123;11237011;16162815;23481700;24397554;24463883;24715725;25114068;25558065;25892735;26154972;26688548;26811146;26992070;27513193;27846572;27920218;28218747;28228285;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29769354;30315122;30779550;31148362;31154438;31844290;31848261;31998317;32357974;32387766;32488085;32502341;32588908;32938616;32983136;33091337;33298915;33537174;33717175;33912179;33936100;33968037;34171305;34405274;34509645;35051231;35318648;35580925;36010968;36215666;36241641;37105505;39894887;9463366;9729469", "class_list": "glycogene;glycosyltransferase", "function": "Genome-wide association analyses identified four suggestive loci (PAX3, CCRN4L, PIGQ, and ADAM19)determinants of disease progression in Alzheimer's disease, [RefSeq, PubMed]; Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability., [RefSeq, PubMed]; Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis., [UniProtKB, PubMed, PubMed]; This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1138, "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": "A2IDE1;D3DU52;O14927;Q96G00;Q96S22;Q9UJH4", "ec_number_list": [], "go_molecular_function": "GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9BRB3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ72-1", "uniprot_id": [ { "id": "PITM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ72", "type": "external" } ], "mass": 148933.0, "length": 1349, "protein_name": "Membrane-associated phosphatidylinositol transfer protein 2", "gene_name": "PITPNM2", "organism": "Human", "refseq_name": "membrane-associated phosphatidylinositol transfer protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001287730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287730", "type": "external" } ], "gene_names_uniprotkb": "PITPNM2; KIAA1457; NIR3", "gene_names_refseq": "NIR-3; NIR3; PITPNM2; RDGB2; RDGBA2", "protein_names_uniprotkb": "Membrane-associated phosphatidylinositol transfer protein 2; NIR-3; PITPnm 2; Phosphatidylinositol transfer protein, membrane-associated 2; Pyk2 N-terminal domain-interacting receptor 3", "protein_names_refseq": "PYK2 N-terminal domain-interacting receptor 3; membrane-associated phosphatidylinositol transfer protein 2 isoform 2; membrane-associated phosphatidylinositol transfer protein 2; retinal degeneration B alpha 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57605); (R-HSA-1483226)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10022914;11237011;17377520;23186163;25887399;26028218;28195573;28904123;29493099;29557506;30429286;32157095;32502341;33592498;34171305;35051231;36581712;3718705;39894887;9407135", "class_list": "", "function": "Membrane-associated phosphatidylinositol (PI) transfer protein that shuttles PI between intracellular membranes and thereby maintains plasma membrane phosphoinositide signaling competence (PubMed:10022914, PubMed:25887399). Upon production of phosphatidic acid (PA), mediates the transfer of phosphatidylinositol from the endoplasmic reticulum to the plasma membrane at endoplasmic reticulum-plasma membrane contact sites. This transfer sustains phospholipase C (PLC)-coupled receptor signaling and replenishing of plasma membrane phosphoinositides following receptor-induced hydrolysis (PubMed:25887399). Promotes PIP2 replenishment following TCR stimulation; plays a critical role in T cell development by supporting calcium signaling in response to weak TCR stimulation during TCRbeta selection and positive selection of thymocytes, as well as maintaining peripheral T cell survival (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]., [RefSeq]; PITPNM2 was associated with bipolar disorder. 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9P271", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0031210 phosphatidylcholine binding;GO:0035091 phosphatidylinositol binding;GO:0008526 phosphatidylinositol transfer activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0012505 endomembrane system", "go_biological_process": "GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9BZ72-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZG2-1", "uniprot_id": [ { "id": "PPAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZG2", "type": "external" } ], "mass": 46090.0, "length": 426, "protein_name": "Testicular acid phosphatase", "gene_name": "ACP4", "organism": "Human", "refseq_name": "testicular acid phosphatase precursor", "refseq_ac": [ { "id": "NP_149059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149059", "type": "external" } ], "gene_names_uniprotkb": "ACP4; ACPT", "gene_names_refseq": "ACP4; ACPT; AI1J", "protein_names_uniprotkb": "Testicular acid phosphatase; 3.1.3.48; Acid phosphatase 4", "protein_names_refseq": "acid phosphatase, testicular; testicular acid phosphatase precursor; testicular acid phosphatase", "tax_id": 9606, "disease": "amelogenesis imperfecta type 1J (Disease Ontology:DOID:0080953)", "pathway": " (hsa:93650)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11414767;15219672;24714562;24715725;27843125;28513613;28904123;29557506;32488085;33592498;34036831;35051231;36183038", "class_list": "", "function": "ACPT biallelic mutations caused non-syndromic, generalized hypoplastic autosomal-recessive amelogenesis imperfecta in individuals from six unrelated Turkish families. Analysis of the ACPT crystal structure suggests that these mutations damaged the activity of ACPT by altering the sizes and charges of key amino acid side chains, limiting accessibility of the catalytic core, and interfering with homodimerization., [RefSeq, PubMed]; ACPT missense mutation segregates with hypoplastic amelogenesis imperfecta in two unrelated families., [RefSeq, PubMed]; Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Enamel defects in Acp4(R110C/R110C) mice and human ACP4 mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Protein tyrosine phosphatase that dephosphorylates the receptor tyrosine-protein kinase ERBB4, thereby inhibiting its ligand-induced proteolytic cleavage (PubMed:15219672). Involved in odontogenesis (PubMed:27843125). Regulates odontoblast cell fate via its extracellular catalytic domain by inhibiting proliferation and promoting differentiation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta., [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": 15, "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": "C0H3P7;Q9BZG3;Q9BZG4", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0003993 acid phosphatase activity;GO:0030971 receptor tyrosine kinase binding;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0010977 negative regulation of neuron projection development;GO:0042476 odontogenesis;GO:0048168 regulation of neuronal synaptic plasticity;GO:1990264 peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity;GO:0010955 negative regulation of protein processing", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9BZG2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0D0-1", "uniprot_id": [ { "id": "PHAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0D0", "type": "external" } ], "mass": 66308.0, "length": 580, "protein_name": "Phosphatase and actin regulator 1", "gene_name": "PHACTR1", "organism": "Human", "refseq_name": "phosphatase and actin regulator 1 isoform a", "refseq_ac": [ { "id": "NP_001229577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229577", "type": "external" } ], "gene_names_uniprotkb": "PHACTR1; KIAA1733; RPEL1", "gene_names_refseq": "DEE70; EIEE70; PHACTR1; RPEL1; RPEL; dJ257A7.2", "protein_names_uniprotkb": "Phosphatase and actin regulator 1", "protein_names_refseq": "RPEL repeat containing 1; phosphatase and actin regulator 1 isoform a", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); developmental and epileptic encephalopathy 70 (Disease Ontology:DOID:0112206); essential hypertension (Disease Ontology:DOID:10825); Moyamoya disease (Disease Ontology:DOID:13099); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); coronary stenosis (Disease Ontology:DOID:4248); myocardial infarction (Disease Ontology:DOID:5844); migraine (Disease Ontology:DOID:6364)", "pathway": " (hsa:221692)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;18452278;21798305;21939755;23033978;23186163;26375851;28832583;28904123;29242379;30256902;30524438;31154438;31530632;31844290;32157095;32502341;32938616;32983136;33392160;33592498;33968037;34109516;34509645;35051231;35561310;35653516;36091033;38272663", "class_list": "glycogene", "function": "A Study of Associations Between rs9349379 (PHACTR1), rs2891168 (CDKN2B-AS), rs11838776 (COL4A2) and rs4880 (SOD2) Polymorphic Variants and Coronary Artery Disease in Iranian Population., [RefSeq, PubMed]; Binds actin monomers (G actin) and plays a role in multiple processes including the regulation of actin cytoskeleton dynamics, actin stress fibers formation, cell motility and survival, formation of tubules by endothelial cells, and regulation of PPP1CA activity (PubMed:21798305, PubMed:21939755). Involved in the regulation of cortical neuron migration and dendrite arborization (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Findings suggest that PHACTR-1 is likely to be a key regulator of endothelial cell function properties., [RefSeq, PubMed]; Genotype and phenotype correlation of PHACTR1-related neurological disorders. Publication Status: Online-Only, [RefSeq, PubMed]; PHACTR1 modulates vascular compliance but not endothelial function: a translational study., [RefSeq, PubMed]; PHACTR1, a coronary artery disease risk gene, mediates endothelial dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; Phactr-1 is a key component in the angiogenic process, [RefSeq, PubMed]; The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 665, "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": "A8K1V2;Q3MJ93;Q5JSJ2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0045202 synapse;GO:0005737 cytoplasm", "go_biological_process": "GO:0021987 cerebral cortex development;GO:0140059 dendrite arborization;GO:0030036 actin cytoskeleton organization;GO:0031032 actomyosin structure organization;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9C0D0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRZ5-1", "uniprot_id": [ { "id": "PLCD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRZ5", "type": "external" } ], "mass": 44021.0, "length": 378, "protein_name": "1-acyl-sn-glycerol-3-phosphate acyltransferase delta", "gene_name": "AGPAT4", "organism": "Human", "refseq_name": "1-acyl-sn-glycerol-3-phosphate acyltransferase delta", "refseq_ac": [ { "id": "NP_064518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064518", "type": "external" } ], "gene_names_uniprotkb": "AGPAT4; PRO1016", "gene_names_refseq": "1-AGPAT4; AGPAT4; LPAAT-delta; LPAAT4; LPLAT4; dJ473J16.2", "protein_names_uniprotkb": "1-acyl-sn-glycerol-3-phosphate acyltransferase delta; 1-AGP acyltransferase 4; 1-AGPAT 4; 1-acylglycerol-3-phosphate O-acyltransferase 4; 2.3.1.51; LPAAT-delta; Lysophosphatidic acid acyltransferase delta", "protein_names_refseq": "1-AGP acyltransferase 4; 1-AGPAT 4; 1-acyl-sn-glycerol-3-phosphate acyltransferase delta; 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta); lysophosphatidic acid acyltransferase delta; lysophosphatidic acid acyltransferase-delta (LPAAT-delta); lysophospholipid acyltransferase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56895); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11487472;11788596;11830583;12063250;12161451;12359733;12522102;12963729;12975309;14573790;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;18238778;18718904;19336658;19666841;20705608;21173190;22777291;22922100;23176821;23176823;23807634;24966474;25576301;25880248;25892735;26711011;28832583;2925608;29493099;29557506;31154438;31844290;32157095;32296017;32357974;33592498;33912179;33968037;33981976;34357683;3458202;35051231;35580925;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (By similarity). Exhibits high acyl-CoA specificity for polyunsaturated fatty acyl-CoA, especially docosahexaenoyl-CoA (22:6-CoA, DHA-CoA) (By similarity)., [UniProtKB, UniProtKB]; The Agpat4/LPA axis in colorectal cancer cells regulates antitumor responses via p38/p65 signaling in macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DSF9;Q5TEF0", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0008654 phospholipid biosynthetic process;GO:0016024 CDP-diacylglycerol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9NRZ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1W9-1", "uniprot_id": [ { "id": "PIM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1W9", "type": "external" } ], "mass": 34190.0, "length": 311, "protein_name": "Serine/threonine-protein kinase pim-2", "gene_name": "PIM2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase pim-2", "refseq_ac": [ { "id": "NP_006866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006866", "type": "external" } ], "gene_names_uniprotkb": "PIM2", "gene_names_refseq": "PIM2", "protein_names_uniprotkb": "Serine/threonine-protein kinase pim-2; 2.7.11.1; Pim-2h", "protein_names_refseq": "pim-2 oncogene; pim-2h; proto-oncogene Pim-2 (serine threonine kinase); serine/threonine-protein kinase pim-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11040)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11237011;12869584;12954615;15291354;15548703;16548883;17287340;17344846;18593906;18675992;19841674;20307683;22869377;23481700;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26728094;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30484775;30524438;31530632;31844290;31998317;32157095;32265295;32350084;32488085;32502341;33298915;33717175;33931981;33936100;33968037;33981976;34211107;34511042;34932366;35051231;35108359;35318648;35580925;36109523;36284347;37059967;9804974", "class_list": "", "function": "HPim-2 mRNA expression in NHL was 1.5 to 2.6 times higher in involved splenic foci compared to nearby uninvolved regions. hPim-2 mRNA was increased 3-folds in B-CLL over normal B-cells, [RefSeq, PubMed]; Long non-coding RNA SOX21-AS1 modulates lung cancer progress upon microRNA miR-24-3p/PIM2 axis., [RefSeq, PubMed]; PIM2 Promotes the Development of Ovarian Endometriosis by Enhancing Glycolysis and Fibrosis., [RefSeq, PubMed]; PIM2 kinase has a pivotal role in plasmablast generation and plasma cell survival, opening up novel treatment options in myeloma., [RefSeq, PubMed]; Phosphorylation of PFKFB4 by PIM2 promotes anaerobic glycolysis and cell proliferation in endometriosis. Erratum:[Cell Death Dis. 2024 Jul 2;15(7):469. doi: 10.1038/s41419-024-06613-w. PMID: 38956061] Publication Status: Online-Only, [RefSeq, PubMed]; Pim-2 functions similarly to pim-1 as a pro-survival kinase; BAD is a legitimate PIM-2 substrate, [RefSeq, PubMed]; Positive regulation of PFKFB3 by PIM2 promotes glycolysis and paclitaxel resistance in breast cancer., [RefSeq, PubMed]; Proto-oncogene with serine/threonine kinase activity involved in cell survival and cell proliferation. Exerts its oncogenic activity through: the regulation of MYC transcriptional activity, the regulation of cell cycle progression, the regulation of cap-dependent protein translation and through survival signaling by phosphorylation of a pro-apoptotic protein, BAD. Phosphorylation of MYC leads to an increase of MYC protein stability and thereby an increase transcriptional activity. The stabilization of MYC exerted by PIM2 might explain partly the strong synergism between these 2 oncogenes in tumorigenesis. Regulates cap-dependent protein translation in a mammalian target of rapamycin complex 1 (mTORC1)-independent manner and in parallel to the PI3K-Akt pathway. Mediates survival signaling through phosphorylation of BAD, which induces release of the anti-apoptotic protein Bcl-X(L)/BCL2L1. Promotes cell survival in response to a variety of proliferative signals via positive regulation of the I-kappa-B kinase/NF-kappa-B cascade; this process requires phosphorylation of MAP3K8/COT. Promotes growth factor-independent proliferation by phosphorylation of cell cycle factors such as CDKN1A and CDKN1B. Involved in the positive regulation of chondrocyte survival and autophagy in the epiphyseal growth plate., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protooncogene that acts as a serine/threonine protein kinase. Studies determined the encoded protein functions to prevent apoptosis and to promote cell survival.[provided by RefSeq, Nov 2009]., [RefSeq]; Transcriptional induction of Pim-2 initiates a novel NF-kappaB activation pathway that regulates cell survival, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K4G6;Q99739", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0007346 regulation of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9P1W9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UG56-3", "uniprot_id": [ { "id": "PISD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UG56", "type": "external" } ], "mass": 46672.0, "length": 409, "protein_name": "Phosphatidylserine decarboxylase proenzyme, mitochondrial", "gene_name": "PISD", "organism": "Human", "refseq_name": "phosphatidylserine decarboxylase proenzyme, mitochondrial isoform a", "refseq_ac": [ { "id": "NP_001313340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001313340", "type": "external" } ], "gene_names_uniprotkb": "PISD", "gene_names_refseq": "DJ858B16; LIBF; PISD; PSDC; PSSC; dJ858B16.2", "protein_names_uniprotkb": "Phosphatidylserine decarboxylase proenzyme, mitochondrial; 4.1.1.65", "protein_names_refseq": "phosphatidylserine decarboxylase proenzyme, mitochondrial isoform a; phosphatidylserine decarboxylase proenzyme, mitochondrial", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); retinal disease (Disease Ontology:DOID:5679); Liberfarb syndrome (MONDO:MONDO:0030045)", "pathway": " (hsa:23761); (R-HSA-1483213)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10191259;10893425;11044454;12216837;12221122;15175005;17132865;17478478;18583706;19915674;22241472;23481700;24714562;25418920;25892735;26154972;26758079;26811146;26929215;26992070;28904123;29437277;29557506;30315122;30410026;30488656;30858161;31217245;31263216;31530632;31844290;31848261;32157095;32357974;32938616;33298915;33593792;33717175;33718843;34171305;34561969;35051231;35561310;35580925;36241641;9083101", "class_list": "", "function": "Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer) (PubMed:30488656, PubMed:30858161). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine. May be involved in lipid droplet biogenesis at the endoplasmic reticulum membrane (By similarity)., [UniProtKB, HAMAP, PubMed, UniProtKB, PubMed]; Conditional targeting of phosphatidylserine decarboxylase to lipid droplets. Publication Status: Online-Only, [RefSeq, PubMed]; The biallelic hypomorphic PISD variant p.(Cys266Tyr) is associated with a novel Spondyloepimetaphyseal dysplasias form., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AKM7;O43207;O95535;Q6IC28;Q96GQ2;Q9UGA9", "ec_number_list": [ { "id": "4.1.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.65", "type": "external" } ], "go_molecular_function": "GO:0004609 phosphatidylserine decarboxylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0016540 protein autoprocessing;GO:0035694 mitochondrial protein catabolic process;GO:0006646 phosphatidylethanolamine biosynthetic process;GO:0010821 regulation of mitochondrion organization;GO:0140042 lipid droplet formation", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9UG56-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIL8-1", "uniprot_id": [ { "id": "PHF11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIL8", "type": "external" } ], "mass": 37582.0, "length": 331, "protein_name": "PHD finger protein 11", "gene_name": "PHF11", "organism": "Human", "refseq_name": "PHD finger protein 11 isoform a", "refseq_ac": [ { "id": "NP_001035533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035533", "type": "external" } ], "gene_names_uniprotkb": "PHF11; BCAP", "gene_names_refseq": "APY; BCAP; IGEL; IGER; IGHER; NY-REN-34; NYREN34; PHF11", "protein_names_uniprotkb": "PHD finger protein 11; BRCA1 C-terminus-associated protein; Renal carcinoma antigen NY-REN-34", "protein_names_refseq": "BRCA1 C-terminus-associated protein; IgE responsiveness (atopic); PHD finger protein 11 isoform a; renal carcinoma antigen NY-REN-34", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); allergic disease (Disease Ontology:DOID:1205); asthma (Disease Ontology:DOID:2841); atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:51131)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10508479;11237011;12754510;15674390;17702965;18405956;20717939;21209280;21320718;23481700;24715725;25576301;25880248;25892735;26154972;26375851;27846572;28228285;28775150;28832583;29242379;29493099;30315122;30524438;31154438;31844290;31848261;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33968037;34087483;34509645;35051231;35580925;36284347;37217939", "class_list": "", "function": "Data suggest that BCAP exists as two isoforms with subtly different roles in inhibition of ciliogenesis. Both are required to prevent ciliogenesis and one additionally controls cilium length after ciliogenesis has completed., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PHF11 (PHD finger protein 11) is not a major candidate gene for asthma or eczema in Chinese children GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PHF11 is a regulator of T(H)1-type cytokine gene expression, [RefSeq, PubMed]; Positional cloning of a quantitative trait locus on chromosome 13q14 that influences immunoglobulin E levels and asthma., [RefSeq, PubMed]; Positive regulator of Th1-type cytokine gene expression., [UniProtKB, PubMed]; Results provide some further support for the role of genetic variation in PHF11 in asthma susceptibility. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The single nucleotide polymorphism rs1046295 of PHF11 modulates allele-specific binding by the octamer-binding transcription factor 1, [RefSeq, PubMed]; This gene encodes a protein containing a PHD (plant homeodomain) type zinc finger. This gene has been identified in some studies as a candidate gene for asthma. Naturally-occurring readthrough transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) gene to this locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5W0A4;Q5W0A6;Q9Y5A2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9UIL8-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPV7-1", "uniprot_id": [ { "id": "PHF24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPV7", "type": "external" } ], "mass": 45192.0, "length": 400, "protein_name": "PHD finger protein 24", "gene_name": "PHF24", "organism": "Human", "refseq_name": "PHD finger protein 24 isoform 1", "refseq_ac": [ { "id": "NP_001291262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291262", "type": "external" } ], "gene_names_uniprotkb": "PHF24; KIAA1045", "gene_names_refseq": "GINIP; PHF24", "protein_names_uniprotkb": "PHD finger protein 24", "protein_names_refseq": "Galpha inhibitory interacting protein; PHD finger protein 24 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23349)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "18669648;20213681;28218747;29430827;29557506;31154438;32938616", "class_list": "", "function": "Cross-brace structural motifs are required as a scaffold to design artificial RING fingers (ARFs) that function as ubiquitin ligase (E3) in ubiquitination and have specific ubiquitin-conjugating enzyme (E2)-binding capabilities., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B7Z253;Q58FE9;Q5T662", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030672 synaptic vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UPV7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXW5-1", "uniprot_id": [ { "id": "RPAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXW5", "type": "external" } ], "mass": 69509.0, "length": 612, "protein_name": "Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2", "gene_name": "RPAP2", "organism": "Human", "refseq_name": "putative RNA polymerase II subunit B1 CTD phosphatase RPAP2", "refseq_ac": [ { "id": "NP_079089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079089", "type": "external" } ], "gene_names_uniprotkb": "RPAP2; C1orf82", "gene_names_refseq": "C1orf82; RPAP2; Rtr1", "protein_names_uniprotkb": "Putative RNA polymerase II subunit B1 CTD phosphatase RPAP2; 3.1.3.16; RNA polymerase II-associated protein 2", "protein_names_refseq": "putative RNA polymerase II subunit B1 CTD phosphatase RPAP2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79871); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10022900;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;17643375;18079403;1829677;18669648;19651622;19667075;20457598;2125285;21406692;22137580;22231121;22252320;22441827;22645359;23166507;23186163;23481700;23932780;24097444;24270878;24714562;24715725;24997600;25418920;25576301;25645385;25675981;26154972;26375851;26728094;26929215;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;2944599;29493099;29508533;29557506;29632046;30118681;30315122;30429286;31092671;31154438;31217245;31492838;31530632;31844290;31848261;31937595;31998317;32143485;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33968037;34171305;34211107;34509645;34932366;35051231;35254053;36010968;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "During transcription of snRNA genes, Ser7 phosphorylation facilitates recruitment of RPAP2, which in turn both recruits Integrator and dephosphorylates Ser5., [RefSeq, PubMed]; Modulation of the Pol II CTD Phosphorylation Code by Rac1 and Cdc42 Small GTPases in Cultured Human Cancer Cells and Its Implication for Developing a Synthetic-Lethal Cancer Therapy. Publication Status: Online-Only, [RefSeq, PubMed]; Protein phosphatase that displays CTD phosphatase activity and regulates transcription of snRNA genes. Recognizes and binds phosphorylated 'Ser-7' of the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and mediates dephosphorylation of 'Ser-5' of the CTD, thereby promoting transcription of snRNA genes (PubMed:17643375, PubMed:22137580, PubMed:24997600). Downstream of EIF2AK3/PERK, dephosphorylates ERN1, a sensor for the endoplasmic reticulum unfolded protein response (UPR), to abort failed ER-stress adaptation and trigger apoptosis (PubMed:30118681)., [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": 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": 5, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "C9JKB5;Q49AS7;Q9H8Y2", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0043175 RNA polymerase core enzyme binding;GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0009301 snRNA transcription;GO:0036499 PERK-mediated unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q8IXW5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14863-1", "uniprot_id": [ { "id": "PO6F1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14863", "type": "external" } ], "mass": 63068.0, "length": 611, "protein_name": "POU domain, class 6, transcription factor 1", "gene_name": "POU6F1", "organism": "Human", "refseq_name": "POU domain, class 6, transcription factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001317351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317351", "type": "external" } ], "gene_names_uniprotkb": "POU6F1; BRN5; MPOU; TCFB1", "gene_names_refseq": "BRN5; MPOU; POU6F1; TCFB1", "protein_names_uniprotkb": "POU domain, class 6, transcription factor 1; Brain-5; Brain-specific homeobox/POU domain protein 5; Brn-5; mPOU homeobox protein", "protein_names_refseq": "POU domain, class 6, transcription factor 1 isoform 2; POU domain, class 6, transcription factor 1; brain-5; brain-specific homeobox/POU domain protein 5; mPOU homeobox protein", "tax_id": 9606, "disease": "lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:5463)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;20134265;31665313;38267746;7908264;8102789", "class_list": "", "function": "POU6F1 promotes ferroptosis by increasing lncRNA-CASC2 transcription to regulate SOCS2/SLC7A11 signaling in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; POU6F1 siRNA dose-dependently suppressed the proliferation of clear cell adenocarcinoma cell lines., [RefSeq, PubMed]; Results signify mPOU as a negative regulator of skeletal muscle differentiation and strengthen the importance of AurkA in skeletal myogenesis, [RefSeq, PubMed]; Transcription factor that binds preferentially to a variant of the octamer motif (5'-ATGATAAT-3')., [UniProtKB, UniProtKB, UniProtKB]", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A1C7CYV8;Q15944;Q6DK47;Q7Z7P6", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0016604 nuclear body", "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:0007507 heart development;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q14863-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZJ9-1", "uniprot_id": [ { "id": "NUDT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZJ9", "type": "external" } ], "mass": 20306.0, "length": 180, "protein_name": "Diphosphoinositol polyphosphate phosphohydrolase 2", "gene_name": "NUDT4", "organism": "Human", "refseq_name": "diphosphoinositol polyphosphate phosphohydrolase 2 isoform 3", "refseq_ac": [ { "id": "NP_001287951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287951", "type": "external" } ], "gene_names_uniprotkb": "NUDT4; DIPP2; HDCMB47P; KIAA0487", "gene_names_refseq": "DIPP-2B; DIPP2alpha; DIPP2beta; DIPP2; HDCMB47P; NUDT4", "protein_names_uniprotkb": "Diphosphoinositol polyphosphate phosphohydrolase 2; 3.6.1.52; 3.6.1.61; DIPP-2; Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 2; Nucleoside diphosphate-linked moiety X motif 4; Nudix motif 4", "protein_names_refseq": "DIPP-2; diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 2; diphosphoinositol polyphosphate phosphohydrolase 2 isoform 3; diphosphoinositol polyphosphate phosphohydrolase type 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11163); (R-HSA-1855167)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11237011;11502751;11909533;12084730;12105228;12121577;12370170;17412958;17690096;17702752;17705785;18355727;18981179;22119861;22869377;24714562;24715725;25418920;25576301;26154972;26728094;26811146;26992070;27600516;27846572;28218747;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;30779550;31154438;31530632;31611695;31848261;31998317;32157095;32938616;32983136;33298915;33592498;33717175;33936100;34561969;35580925;36010968;36241641;9822604", "class_list": "", "function": "Cleaves the beta-phosphate from diphosphoinositol polyphosphates such as PP-InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 (diphosphoinositol tetrakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction (PubMed:10777568). Diadenosine polyphosphates, particularly Ap6A (P(1),P(6)-bis(5a-adenosyl) hexaphosphate) and Ap5A (P(1),P(5)-bis(5'-adenosyl) pentaphosphate) are downstream effectors of a signaling cascade that regulates cardiac KATP channels, can also be substrates, although with lower preference than the diphosphoinositol polyphosphates (PubMed:10777568). Can also catalyze the hydrolysis of 5-phosphoribose 1-diphosphate, generating the glycolytic activator ribose 1,5-bisphosphate (PubMed:12370170). Does not play a role in U8 snoRNA decapping activity (By similarity). Binds U8 snoRNA (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]., [RefSeq]; This paper demonstrates that KIAA0487 (AB007956) is the 3'-UTR for human diphosphoinositol polyphosphate phosphohydrolase type II, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7Z916;Q4AEJ6;Q53EZ2;Q68DD7;Q9NPC5;Q9NS30;Q9NZK0;Q9NZK1", "ec_number_list": [ { "id": "3.6.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.59", "type": "external" }, { "id": "3.6.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.52", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.10", "type": "external" }, { "id": "3.6.1.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.61", "type": "external" }, { "id": "3.6.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.60", "type": "external" } ], "go_molecular_function": "GO:0000298 endopolyphosphatase activity;GO:0008486 diphosphoinositol-polyphosphate diphosphatase activity;GO:0034431 bis(5'-adenosyl)-hexaphosphatase activity;GO:0034432 bis(5'-adenosyl)-pentaphosphatase activity;GO:0052845 inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071543 diphosphoinositol polyphosphate metabolic process;GO:1901907 diadenosine pentaphosphate catabolic process;GO:1901909 diadenosine hexaphosphate catabolic process;GO:1901911 adenosine 5'-(hexahydrogen pentaphosphate) catabolic process;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9NZJ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6E5-1", "uniprot_id": [ { "id": "STPAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6E5", "type": "external" } ], "mass": 93847.0, "length": 874, "protein_name": "Speckle targeted PIP5K1A-regulated poly(A) polymerase", "gene_name": "TUT1", "organism": "Human", "refseq_name": "speckle targeted PIP5K1A-regulated poly(A) polymerase isoform 1", "refseq_ac": [ { "id": "NP_073741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073741", "type": "external" } ], "gene_names_uniprotkb": "TUT1; RBM21", "gene_names_refseq": "PAPD2; RBM21; STARPAP; TENT1; TUT1; TUTase; URLC6", "protein_names_uniprotkb": "Speckle targeted PIP5K1A-regulated poly(A) polymerase; 2.7.7.19; 2.7.7.52; RNA-binding motif protein 21; RNA-binding protein 21; Star-PAP; U6 snRNA-specific terminal uridylyltransferase 1; U6-TUTase", "protein_names_refseq": "PAP-associated domain-containing 2; RNA uridylyltransferase; RNA-binding motif protein 21; RNA-binding protein 21; TUTase 6; U6 snRNA-specific terminal uridylyltransferase 1; U6-TUTase; nuclear speckle targeted phosphatidylinositol 4-phosphate 5-kinase type I-alpha regulated-poly(A) polymerase; nuclear speckle-targeted PIPK1A-regulated-poly(A) polymerase; poly(A) polymerase associated domain containing 2; speckle targeted PIP5K1A-regulated poly(A) polymerase isoform 1; speckle targeted PIP5K1A-regulated poly(A) polymerase; star-PAP; up-regulated in lung cancer 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:64852); (R-HSA-9770562)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10669729;11060040;11237011;14749727;15037765;15565158;16790842;17128255;18172165;18288197;18305108;19217410;20695905;21102410;21295486;22813749;23481700;23874216;24076191;24149845;24366607;24715725;25301780;25301781;25576301;26138484;26154972;26375851;26992070;27846572;28096519;28218747;28228285;28589955;28832583;28834231;28904123;28911096;29186539;29203642;29242379;29274231;29508533;29557506;29632711;29786170;30139799;30257008;30315122;30833945;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32816001;32897882;32938616;33141586;33298915;33936100;33968037;34171305;34211107;34576144;35051231;35177536;36241641;37563152;38364942;9659921", "class_list": "", "function": "Mechanism of U6 snRNA oligouridylation by human TUT1. Publication Status: Online-Only, [RefSeq, PubMed]; Poly(A) polymerase that creates the 3'-poly(A) tail of specific pre-mRNAs (PubMed:18288197, PubMed:21102410). Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1 (PubMed:18288197). In addition to polyadenylation, it is also required for the 3'-end cleavage of pre-mRNAs: binds to the 3'UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3'UTR of pre-mRNAs (PubMed:21102410). In addition to adenylyltransferase activity, also has uridylyltransferase activity (PubMed:16790842, PubMed:18288197, PubMed:28589955). However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase (PubMed:18288197). Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3'-terminal UMP-residues found in newly transcribed U6 snRNA (PubMed:16790842, PubMed:18288197, PubMed:28589955). Not involved in replication-dependent histone mRNA degradation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Poly(A) polymerase that creates the 3'-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3'-end cleavage of pre-mRNAs: binds to the 3'UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3'UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase. Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3'-terminal UMP-residues found in newly transcribed U6 snRNA. Not involved in replication-dependent histone mRNA degradation., [UniProtKB, UniProtKB]; Star-PAP RNA Binding Landscape Reveals Novel Role of Star-PAP in mRNA Metabolism That Requires RBM10-RNA Association. Publication Status: Online-Only, [RefSeq, PubMed]; Star-PAP controls oncogene expression through primary miRNA 3'-end formation to regulate cellular proliferation and tumour formation., [RefSeq, PubMed]; This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 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": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1A527;A8K995;Q2NL65;Q7L583;Q9H6H7", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0005847 mRNA cleavage and polyadenylation specificity factor complex", "go_biological_process": "GO:0051252 regulation of RNA metabolic process;GO:0034477 U6 snRNA 3'-end processing;GO:0016180 snRNA processing;GO:0031124 mRNA 3'-end processing;GO:0031123 RNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9H6E5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43632-1", "uniprot_id": [ { "id": "KI2S4_HUMAN", "url": "https://www.uniprot.org/uniprot/P43632", "type": "external" } ], "mass": 33583.0, "length": 304, "protein_name": "Killer cell immunoglobulin-like receptor 2DS4", "gene_name": "KIR2DS4", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DS4 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001268901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268901", "type": "external" } ], "gene_names_uniprotkb": "KIR2DS4; CD158I; KKA3; NKAT8", "gene_names_refseq": "CD158I; KIR-2DS4; KIR1D; KIR2DS4; KIR412; KKA3; NKAT-8; NKAT8", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DS4; CD158 antigen-like family member I; NKAT-8; Natural killer-associated transcript 8; P58 natural killer cell receptor clones CL-39/CL-17; p58 NK receptor CL-39/CL-17", "protein_names_refseq": "CD158 antigen-like family member I; KIR antigen 2DS4; P58 natural killer cell receptor clones CL-39/CL-17; killer cell immunoglobulin-like receptor 2DS4 isoform 3 precursor; killer cell immunoglobulin-like receptor 2DS4; killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4; killer inhibitory receptor 4-1-2; natural killer-associated transcript 8; p50 killer cell activating receptor KAR-K1d; p58 NK receptor CL-39/CL-17", "tax_id": 9606, "disease": "", "pathway": " (hsa:3809); (R-HSA-2172127)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10049942;10449773;10604985;10940905;11602640;12668644;12776204;14607943;14707061;15265913;15557162;15884055;15940674;16623599;16920917;16933987;17012248;17110943;17202323;17483134;17641029;18624290;18629938;19858347;20093094;20865034;20890284;21216870;24018270;24715725;32594584;34929414;37150297;38387251;7749980;8662091;8765026;9490415;9625766;9655483", "class_list": "", "function": "Association of KIR gene polymorphisms with COVID-19 disease., [RefSeq, PubMed]; Evaluation of the genetic diversity of KIR genes in patients with endometrial cancer., [RefSeq, PubMed]; KIR2DS4 and Its Variant KIR1D in KIR-AA Genotype Donors Showed Differential Survival Impact in Patients with Lymphoid Disease after HLA-Matched Unrelated Hematopoietic Stem Cell Transplantation., [RefSeq, PubMed]; KIR2DS4*001, the only allele of KIR2DS4 known to encode a functional activating receptor, was associated with relatively high viral load for HIV-1 and with accelerated transmission of HIV-1 to cohabiting seronegative partners., [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. Does not inhibit the activity of NK cells., [UniProtKB, PubMed]; The impact of donor full-length KIR2DS4 in the development of acute and chronic GVHD after unrelated allogeneic HSCT., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 5, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q6H2G7", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0023029 MHC class Ib protein binding;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:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P43632-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q659C4-1", "uniprot_id": [ { "id": "LAR1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q659C4", "type": "external" } ], "mass": 105322.0, "length": 914, "protein_name": "La-related protein 1B", "gene_name": "LARP1B", "organism": "Human", "refseq_name": "la-related protein 1B isoform 4", "refseq_ac": [ { "id": "NP_001265533", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265533", "type": "external" } ], "gene_names_uniprotkb": "LARP1B; LARP2", "gene_names_refseq": "LARP1B; LARP2", "protein_names_uniprotkb": "La-related protein 1B; La ribonucleoprotein domain family member 1B; La ribonucleoprotein domain family member 2; La-related protein 2", "protein_names_refseq": "La ribonucleoprotein domain family member 1B; La ribonucleoprotein domain family, member 2; la-related protein 1B isoform 4; la-related protein 1B; la-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55132)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12045101;18669648;19413330;19651622;19664994;19664995;19690332;20068231;21406692;22327645;23186163;23301498;23481700;24275569;24714562;24715725;25576301;25880248;25892735;26375851;26992070;27846572;27869121;28411811;28904123;29242379;29393594;29632046;29769354;29786170;30429286;30484775;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;34087483;34405274;34932366;35051231;36581221", "class_list": "", "function": "Review discusses the La motif, found in this protein. Review article, [RefSeq, PubMed]; The promoter of the gene of La ribonucleoprotein domain family (LARP2) was significantly hypermethylated in beta-thalassemia, and the expression of LARP2 was significantly lower in beta-thalassemia., [RefSeq, PubMed]; This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq, Jun 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "Q2YDB6;Q4W599;Q4W5B2;Q659A0;Q6P5X2;Q7Z3F7;Q86VK7;Q8N6F4;Q8N7H4;Q8NAF2;Q9H5E7;Q9NW12", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0000339 RNA cap binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0010494 cytoplasmic stress granule;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0048255 mRNA stabilization;GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q659C4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXI2-1", "uniprot_id": [ { "id": "MIRO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXI2", "type": "external" } ], "mass": 70784.0, "length": 618, "protein_name": "Mitochondrial Rho GTPase 1", "gene_name": "RHOT1", "organism": "Human", "refseq_name": "mitochondrial Rho GTPase 1 isoform 2", "refseq_ac": [ { "id": "NP_001028738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028738", "type": "external" } ], "gene_names_uniprotkb": "RHOT1; ARHT1", "gene_names_refseq": "ARHT1; MIRO-1; MIRO1; RHOT1", "protein_names_uniprotkb": "Mitochondrial Rho GTPase 1; 3.6.5.-; MIRO-1; Rac-GTP-binding protein-like protein; Ras homolog gene family member T1; hMiro-1", "protein_names_refseq": "mitochondrial Rho (MIRO) GTPase 1; mitochondrial Rho GTPase 1 isoform 2; rac-GTP binding protein-like protein; ras homolog gene family, member T1", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); motor neuron disease (Disease Ontology:DOID:231)", "pathway": " (hsa:55288); (R-HSA-5689880); (R-HSA-9013425)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10444327;10982817;11230166;11237011;11566882;11923872;12482879;12696059;12917689;12917691;14521508;14661020;15053880;15916963;16214042;16630562;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18452278;18467330;18632802;18636086;19015242;19098100;19103291;19135894;19188362;19363159;19398555;19424180;19528298;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;22396657;23159851;23395819;23481700;23486064;23824326;23825189;24056413;24260525;24366607;24493797;24896179;24995978;25197364;25305019;25418920;25578727;25880248;25892735;26154972;26811146;26992070;27600516;27605430;27716788;27846572;27920218;28218747;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29769354;30111583;30315122;30410026;30513825;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33123756;33132189;33298915;33592498;33633747;33717175;33912179;33968037;34171305;34561969;34932366;35051231;35170374;35318648;35455950;35580925;36010968;37949220;38378644;7578059", "class_list": "", "function": "Atypical mitochondrial nucleoside-triphosphatase (NTPase) involved in mitochondrial trafficking (PubMed:12482879, PubMed:16630562, PubMed:22396657, PubMed:30513825). Probably involved in control of anterograde transport of mitochondria and their subcellular distribution (PubMed:12482879, PubMed:16630562, PubMed:22396657). Promotes mitochondrial fission during high calcium conditions (PubMed:27716788). Can hydrolyze GTP, ATP and UTP (PubMed:30513825)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Atypical mitochondrial nucleoside-triphosphatase (NTPase) involved in mitochondrial trafficking. Probably involved in control of anterograde transport of mitochondria and their subcellular distribution. Can hydrolyze GTP, ATP and UTP., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; HMGB1 promotes mitochondrial transfer between hepatocellular carcinoma cells through RHOT1 and RAC1 under hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0005230 is up-regulated and promotes gastric cancer cell invasion and migration via regulating the miR-1299/RHOT1 axis., [RefSeq, PubMed]; Interaction between the mitochondrial adaptor MIRO and the motor adaptor TRAK., [RefSeq, PubMed]; Miro1,2 proteins serve as a [Ca(2+)](c)-sensitive switch and bifunctional regulator for both the motility and fusion-fission dynamics of the mitochondria., [RefSeq, PubMed]; Moreover, we show that Miro interacts with the Kinesin-binding proteins, GRIF-1 and OIP106, suggesting that the Miro GTPases form a link between the mitochondria and the trafficking apparatus of the microtubules., [RefSeq, PubMed]; These data suggest that Miro1 and the kinesin adaptor Grif-1 play an important role in regulating mitochondrial transport in 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": 3, "reported_mutagensis": 7, "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": "A4FVB6;A6NFV0;B4DG48;J9JIH9;Q6NUR3;Q6P9F8;Q6PJG1;Q6YMW8;Q86UB0;Q8IW28;Q8IXJ7;Q9H067;Q9H9N8;Q9NUZ2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0016887 ATP hydrolysis activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane", "go_biological_process": "GO:0047497 mitochondrion transport along microtubule;GO:0019725 cellular homeostasis;GO:0007005 mitochondrion organization;GO:0010821 regulation of mitochondrion organization;GO:0097345 mitochondrial outer membrane permeabilization", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q8IXI2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHK3-1", "uniprot_id": [ { "id": "KI2LB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHK3", "type": "external" } ], "mass": 40695.0, "length": 375, "protein_name": "Killer cell immunoglobulin-like receptor 2DL5B", "gene_name": "KIR2DL5B", "organism": "Human", "refseq_name": "killer cell immunoglobulin-like receptor 2DL5B precursor", "refseq_ac": [ { "id": "NP_001018091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018091", "type": "external" } ], "gene_names_uniprotkb": "KIR2DL5B; CD158F2; CD158F; KIR2DL5; KIR2DLX", "gene_names_refseq": "KIR2DL5.2; KIR2DL5B; KIR2DL5; KIR2DLX", "protein_names_uniprotkb": "Killer cell immunoglobulin-like receptor 2DL5B; CD158 antigen-like family member F2; Killer cell immunoglobulin-like receptor 2DLX", "protein_names_refseq": "CD158 antigen-like family member F2; contains long cytoplasmic tail; killer Ig receptor; killer cell immunoglobulin-like receptor 2DL5B precursor; killer cell immunoglobulin-like receptor 2DL5B; killer cell immunoglobulin-like receptor 2DLX; killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 5; killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B; killer-cell Ig-like receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:553128)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12185535;18461314;21206914;21729574;22652695;23394822;26500342;29557506;35501290", "class_list": "", "function": "Indicate that killer-cell immunoglobulin-like receptors (KIRs)activator (KIR3DS1 and KIR2DS5) and inhibitory (KIR2DL5) genes are associated with severe pandemic influenza A (H1N1) 2009 infections., [RefSeq, PubMed]; KIR2DL3, KIR2DS5 and KIR2DL5B genes may be correlated with pathogenesis of nasopharyngeal carcinoma in the Chinese southern Han population., [RefSeq, PubMed]; KIR2DL5B and HLA DRB1*12 alleles seems to be associated with protection against HIV-1 in serodiscordant couples in Burkina Faso., [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. Inhibits the activity of NK cells thus preventing cell lysis., [UniProtKB]; We found the presence of KIR2DL5B to be associated with inferior transformation-free survival and event-free survival in patients with chronic phase-chronic myeloid leukemia, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B0L651;Q8NHK4", "ec_number_list": [], "go_molecular_function": "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", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NHK3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14207-1", "uniprot_id": [ { "id": "NPAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14207", "type": "external" } ], "mass": 154290.0, "length": 1427, "protein_name": "Protein NPAT", "gene_name": "NPAT", "organism": "Human", "refseq_name": "protein NPAT isoform 2", "refseq_ac": [ { "id": "NP_002510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002510", "type": "external" } ], "gene_names_uniprotkb": "NPAT; CAND3; E14", "gene_names_refseq": "E14/NPAT; E14; NPAT; p220", "protein_names_uniprotkb": "Protein NPAT; Nuclear protein of the ATM locus; Nuclear protein of the ataxia telangiectasia mutated locus; p220", "protein_names_refseq": "nuclear protein of the ATM locus; nuclear protein of the ataxia telangiectasia mutated locus; nuclear protein, ataxia-telangiectasia locus; nuclear protein, co-activator of histone transcription; protein NPAT isoform 2; protein NPAT", "tax_id": 9606, "disease": "", "pathway": " (hsa:4863)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10995386;10995387;11237011;12032824;12665581;12724424;12887926;14585971;14612403;14976556;15555599;15988025;16131487;16972248;17003125;17068332;17081983;17096384;17163457;17520687;17525332;17826007;17967892;17974976;19413330;19608861;19651622;20058876;20068231;22706990;23186163;23301498;25339177;25576301;26429916;26992070;27600516;27846572;27920218;28228285;28832583;28904123;29242379;29331515;29393594;29493099;29557506;29632046;30315122;30429286;30451992;30484775;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32722282;32938616;32938750;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34197485;34509645;34932366;35051231;35580925;36010968;36241641;37938771;38253038;38778081;40516528;40516529;8743993;8923007;9060412;9205109;9472014", "class_list": "", "function": "Cpn10 has a role in the spatial regulation of NPAT signaling, [RefSeq, PubMed]; Germline NPAT inactivating variants as cause of hereditary colorectal cancer., [RefSeq, PubMed]; Structural Analysis of the SANT/Myb Domain of FLASH and YARP Proteins and Their Complex with the C-Terminal Fragment of NPAT by NMR Spectroscopy and Computer Simulations. Publication Status: Online-Only, [RefSeq, PubMed]; The conserved C-terminal domain shared by FLASH, YARP, and Mute recognizes the C-terminal sequence of NPAT orthologues, thus acting as a signal targeting proteins to histone locus bodies., [RefSeq, PubMed]; The genetic association of the transcription factor NPAT with glycemic response to metformin involves regulation of fuel selection. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription regulator required for progression through the G1 and S phases of the cell cycle and for S phase entry (PubMed:12665581, PubMed:15555599, PubMed:9472014). Acts as a key transcription regulator of histones (PubMed:10995386, PubMed:10995387, PubMed:12724424, PubMed:14585971, PubMed:14612403, PubMed:15988025, PubMed:16131487, PubMed:17163457, PubMed:25339177, PubMed:40516528, PubMed:40516529). Activates transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes in conjunction with GON4L and MIZF (PubMed:10995386, PubMed:10995387, PubMed:12724424, PubMed:14585971, PubMed:14612403, PubMed:15988025, PubMed:16131487, PubMed:17163457, PubMed:25339177). Together with CRAMP1, binds to the promoters of H1 genes (H1-2, H1-3, H1-4, H1-5 and H1-10/H1x), driving their transcription (PubMed:40516528, PubMed:40516529). Also positively regulates the ATM, MIZF and PRKDC promoters (PubMed:17826007, PubMed:17974976, PubMed:8743993, PubMed:8923007). Transcriptional activation may be accomplished at least in part by the recruitment of the NuA4 histone acetyltransferase (HAT) complex to target gene promoters (PubMed:17967892)., [UniProtKB, PubMed, 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": 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": 23, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 55, "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": "A8K1V5;A8K6M2;Q13632;Q14967;Q16580;Q86W55;Q8IWE9", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0044843 cell cycle G1/S phase transition", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q14207-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92508-1", "uniprot_id": [ { "id": "PIEZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92508", "type": "external" } ], "mass": 286790.0, "length": 2521, "protein_name": "Piezo-type mechanosensitive ion channel component 1", "gene_name": "PIEZO1", "organism": "Human", "refseq_name": "piezo-type mechanosensitive ion channel component 1", "refseq_ac": [ { "id": "NP_001136336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136336", "type": "external" } ], "gene_names_uniprotkb": "PIEZO1; FAM38A; KIAA0233", "gene_names_refseq": "DHS; ER; FAM38A; LMPH3; LMPHM6; Mib; PIEZO1", "protein_names_uniprotkb": "Piezo-type mechanosensitive ion channel component 1; Membrane protein induced by beta-amyloid treatment; Mib; Protein FAM38A", "protein_names_refseq": "family with sequence similarity 38, member A; membrane protein induced by beta-amyloid treatment; piezo-type mechanosensitive ion channel component 1", "tax_id": 9606, "disease": "hereditary lymphedema (Disease Ontology:DOID:0050580); dehydrated hereditary stomatocytosis (Disease Ontology:DOID:0111575); dehydrated hereditary stomatocytosis 1 (Disease Ontology:DOID:0111576); distal arthrogryposis type 5 (Disease Ontology:DOID:0111608); lymphatic malformation 6 (MONDO:MONDO:0014797)", "pathway": " (hsa:9780); (R-HSA-9856530); (R-HSA-9856532); (R-HSA-9860927)", "pathway_count": 4, "publication_count": 155, "publication_id_list": "10.1101/2023.09.13.557529;10376603;10639123;10649434;10764742;11237011;11853546;11968001;12176338;12724311;15304325;15718470;16780920;16854388;17081983;17483156;18280240;18311491;18669648;18710921;19020623;19349973;19690332;19723632;20016066;20068231;20112406;22424782;22529292;22898188;23186163;23479567;23481700;23487776;23581886;23695678;23973043;24190977;24275569;24714562;24715725;25119035;25418920;25502872;25505266;25576301;25645385;25880248;25892735;25955826;26154972;26333996;26375851;26811146;26929215;26992070;27543614;27566546;27797339;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29799007;30192525;30315122;30410026;30429286;30484775;30524438;30626607;30779550;30784271;30833945;31154438;31205027;31217245;31408443;31844290;31848261;32037480;32157095;32161166;32265295;32296767;32350084;32357974;32387766;32502341;32673515;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34078123;34087483;34171305;34185709;34211107;34357683;34433824;34499618;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35494241;35561310;35580925;36010968;36122374;36215666;36241641;36284347;36581221;37074911;37590348;37938771;38184690;39189800;39251883;39334923;39441936;39531497;7876172;8700127;9038151;9620797", "class_list": "", "function": "Acute contact with profibrotic macrophages mechanically activates fibroblasts via alphavbeta3 integrin-mediated engagement of Piezo1., [RefSeq, PubMed]; Functional Role of Piezo1 in the Human Eosinophil Cell Line AML14.3D10: Implications for the Immune and Sensory Nervous Systems. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanisms of mechanotransduction and physiological roles of PIEZO channels. Review article, [RefSeq, PubMed]; Piezo channels modulate human lung fibroblast function., [RefSeq, PubMed]; Pore-forming subunit of the mechanosensitive non-specific cation Piezo channel required for rapidly adapting mechanically activated (MA) currents and has a key role in sensing touch and tactile pain (PubMed:23479567, PubMed:23695678, PubMed:25955826, PubMed:37590348). Piezo channels are homotrimeric three-blade propeller-shaped structures that utilize a cap-motion and plug-and-latch mechanism to gate their ion-conducting pathways (PubMed:37590348). Generates currents characterized by a linear current-voltage relationship that are sensitive to ruthenium red and gadolinium (By similarity). Conductance to monovalent alkali ions is highest for K(+), intermediate for Na(+) and lowest for Li(+) (PubMed:25955826). Divalent ions except for Mn(2+) permeate the channel but more slowly than the monovalent ions and they also reduce K(+) currents (PubMed:25955826). Plays a key role in epithelial cell adhesion by maintaining integrin activation through R-Ras recruitment to the ER, most probably in its activated state, and subsequent stimulation of calpain signaling (PubMed:20016066). In inner ear hair cells, PIEZO1/2 subunits may constitute part of the mechanotransducer (MET) non-selective cation channel complex where they may act as pore-forming ion-conducting component in the complex (By similarity). In the kidney, may contribute to the detection of intraluminal pressure changes and to urine flow sensing (By similarity). Acts as a shear-stress sensor that promotes endothelial cell organization and alignment in the direction of blood flow through calpain activation (PubMed:25119035). Plays a key role in blood vessel formation and vascular structure in both development and adult physiology (By similarity). Acts as a sensor of phosphatidylserine (PS) flipping at the plasma membrane and governs morphogenesis of muscle cells (By similarity). In myoblasts, flippase-mediated PS enrichment at the inner leaflet of plasma membrane triggers channel activation and Ca2+ influx followed by Rho GTPases signal transduction, leading to assembly of cortical actomyosin fibers and myotube formation (PubMed:29799007)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; The MIB index was strongly correlated with disease progression in papillary urothelial neoplasms in the urinary bladder., [RefSeq, PubMed]; The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 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": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 5, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NHT9;A7E2B7;Q0KKZ9", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005261 monoatomic cation channel activity;GO:0140135 mechanosensitive monoatomic cation channel activity;GO:0008381 mechanosensitive monoatomic ion channel activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane;GO:0031258 lamellipodium membrane", "go_biological_process": "GO:0010831 positive regulation of myotube differentiation;GO:0042391 regulation of membrane potential;GO:0006812 monoatomic cation transport;GO:0071260 cellular response to mechanical stimulus;GO:0050982 detection of mechanical stimulus", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q92508-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J2F0-1", "uniprot_id": [ { "id": "PIOS1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J2F0", "type": "external" } ], "mass": 6313.0, "length": 54, "protein_name": "Protein PIGBOS1", "gene_name": "PIGBOS1", "organism": "Human", "refseq_name": "protein PIGBOS1", "refseq_ac": [ { "id": "NP_001295350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295350", "type": "external" } ], "gene_names_uniprotkb": "PIGBOS1", "gene_names_refseq": "HP06981; PIGBOS1", "protein_names_uniprotkb": "Protein PIGBOS1; PIGB opposite strand protein 1", "protein_names_refseq": "PIGB opposite strand protein 1; protein PIGBOS1", "tax_id": 9606, "disease": "", "pathway": " (hsa:101928527)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;31611695;31653868;32488085;36241641", "class_list": "", "function": "PIGBOS regulates the unfolded protein response (UPR). PIGBOS localizes to the mitochondrial outer membrane where it interacts with the ER protein CLCC1 at ER-mitochondria contact sites. Functional studies reveal that the loss of PIGBOS leads to heightened UPR and increased cell death. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in regulation of the unfolded protein response triggered by endoplasmic reticulum (ER) stress resulting from the presence of unfolded proteins in the ER lumen., [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": 8, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0006986 response to unfolded protein;GO:1900101 regulation of endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0B4J2F0-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969V3-1", "uniprot_id": [ { "id": "NCLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969V3", "type": "external" } ], "mass": 62974.0, "length": 563, "protein_name": "BOS complex subunit NCLN", "gene_name": "NCLN", "organism": "Human", "refseq_name": "BOS complex subunit NCLN isoform 2 precursor", "refseq_ac": [ { "id": "NP_001308392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308392", "type": "external" } ], "gene_names_uniprotkb": "NCLN", "gene_names_refseq": "NCLN; NET59", "protein_names_uniprotkb": "BOS complex subunit NCLN; Nicalin; Nicastrin-like protein", "protein_names_refseq": "BOS complex subunit NCLN isoform 2 precursor; BOS complex subunit NCLN; nicalin homolog; nicastrin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:56926)", "pathway_count": 1, "publication_count": 101, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;15257293;20068231;20538592;22424782;23481700;24190977;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26929215;26992070;27397612;27452731;27543614;27600516;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29741879;29769354;29786170;29789417;30315122;30397120;30410026;30524438;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32820719;32897882;32914261;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34846842;34932366;35051231;35138101;35254053;35289036;35561310;35580925;36010968;36215666;36241641;36261522;36284347;36581221;37074911;38665916;40596516;40914422", "class_list": "", "function": "Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes. The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions. May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NOMO., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; Identification of the soluble EphA7-interacting protein Nicalin as a regulator of EphA7 expression., [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D6W613;O75252;Q6FI60;Q6ZMB7;Q8TAT7;Q96H48;Q96IS7;Q9BQH9;Q9BTX4;Q9NPP2", "ec_number_list": [], "go_molecular_function": "GO:0043022 ribosome binding", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex;GO:0160064 multi-pass translocon complex", "go_biological_process": "GO:0003140 determination of left/right asymmetry in lateral mesoderm;GO:1900108 negative regulation of nodal signaling pathway;GO:0050821 protein stabilization;GO:0009966 regulation of signal transduction;GO:0043254 regulation of protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q969V3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZR37-1", "uniprot_id": [ { "id": "PKHG7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZR37", "type": "external" } ], "mass": 79526.0, "length": 691, "protein_name": "Pleckstrin homology domain-containing family G member 7", "gene_name": "PLEKHG7", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family G member 7 isoform 2", "refseq_ac": [ { "id": "NP_001032760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032760", "type": "external" } ], "gene_names_uniprotkb": "PLEKHG7; C12orf74", "gene_names_refseq": "C12orf74; PLEKHG7", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family G member 7; PH domain-containing family G member 7", "protein_names_refseq": "PH domain-containing family G member 7; pleckstrin homology domain containing, family G (with RhoGef domain) member 7; pleckstrin homology domain-containing family G member 7 isoform 2; pleckstrin homology domain-containing family G member 7; uncharacterized protein C12orf74", "tax_id": 9606, "disease": "", "pathway": " (hsa:440107)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29605689;39894887", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A1X7SBZ7;B2RNR7;F5H4P0;Q32Q52", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6ZR37-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW19-1", "uniprot_id": [ { "id": "KIFC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW19", "type": "external" } ], "mass": 73748.0, "length": 673, "protein_name": "Kinesin-like protein KIFC1", "gene_name": "KIFC1", "organism": "Human", "refseq_name": "kinesin-like protein KIFC1", "refseq_ac": [ { "id": "NP_002254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002254", "type": "external" } ], "gene_names_uniprotkb": "KIFC1; HSET; KNSL2", "gene_names_refseq": "HSET; KIFC1; KNSL2", "protein_names_uniprotkb": "Kinesin-like protein KIFC1; Kinesin-like protein 2; Kinesin-related protein HSET", "protein_names_refseq": "kinesin-like 2; kinesin-like protein 2; kinesin-like protein KIFC1; kinesin-related protein HSET", "tax_id": 9606, "disease": "", "pathway": " (hsa:3833); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 185, "publication_id_list": "10052452;10318838;10369922;10445031;10559959;10761932;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;11782313;12047556;12070132;12368902;1406973;14504276;14654841;15029241;15037235;15272311;15326200;15616190;15632110;15813748;15843429;16030262;1607388;16262723;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17081983;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17924679;17927562;17956946;18182008;18287528;18342609;18452278;18524849;18669648;18809720;1898986;19007248;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19691289;19758564;20005805;20068230;20068231;20136777;20357002;20427317;20462495;20534429;20637885;21219331;2142332;21550981;21689688;21844168;22013193;22094269;22304919;23186163;23396477;23481700;24366607;24715725;2521221;2522352;25364732;25436559;25492864;25576301;26154972;26375851;26992070;27600516;27846572;27920218;28649982;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632046;30379171;30524438;30779550;31154438;31217245;3130248;3134048;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33397932;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35580925;36010968;36215666;38003261;38112634;38456590;38551642;38902769;7528108;7539720;7822426;7844144;7929562;8001155;8128252;8132710;8221884;8253837;8276466;8505331;8548803;8599929;8602245;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "A comprehensive analysis of the prognostic and immunotherapeutic characteristics of KIFC1 in pan-cancer and its role in the malignant phenotype of pancreatic cancer., [RefSeq, PubMed]; A novel role for KIFC1-MYH9 interaction in triple-negative breast cancer aggressiveness and racial disparity. Publication Status: Online-Only, [RefSeq, PubMed]; CDK1 promotes the phosphorylation of KIFC1 to regulate the tumorgenicity of endometrial carcinoma., [RefSeq, PubMed]; Kinesin Family Member C1 (KIFC1/HSET) Underlies Aggressive Disease in Androgen Receptor-Low and Basal-Like Triple-Negative Breast Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Minus end-directed microtubule-dependent motor required for bipolar spindle formation (PubMed:15843429). May contribute to movement of early endocytic vesicles (By similarity). Regulates cilium formation and structure (By similarity)., [UniProtKB, UniProtKB, PubMed]; The DDX6/KIFC1 signaling axis, as regulated by YY1, contributes to the malignant behavior of pancreatic 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O60887;Q14834;Q4KMP0;Q5SU09;Q6GMS7;Q6P4A5;Q9UQP7", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005813 centrosome;GO:0005874 microtubule", "go_biological_process": "GO:0007283 spermatogenesis;GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0007018 microtubule-based movement;GO:0007080 mitotic metaphase chromosome alignment", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q9BW19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95944-1", "uniprot_id": [ { "id": "NCTR2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95944", "type": "external" } ], "mass": 30677.0, "length": 276, "protein_name": "Natural cytotoxicity triggering receptor 2", "gene_name": "NCR2", "organism": "Human", "refseq_name": "natural cytotoxicity triggering receptor 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001186438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186438", "type": "external" } ], "gene_names_uniprotkb": "NCR2; LY95", "gene_names_refseq": "CD336; LY95; NCR2; NK-p44; NKP44; dJ149M18.1", "protein_names_uniprotkb": "Natural cytotoxicity triggering receptor 2; Lymphocyte antigen 95 homolog; NK cell-activating receptor; NK-p44; NKp44; Natural killer cell p44-related protein", "protein_names_refseq": "NK cell activating receptor (NKp44); NK cell-activating receptor; NK-p44); lymphocyte antigen 95 (activating NK-receptor; lymphocyte antigen 95 homolog (activating NK-receptor; natural cytotoxicity triggering receptor 2 isoform 2 precursor; natural killer cell p44-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9436); (R-HSA-198933); (R-HSA-2172127)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10049942;10449773;10499918;10604985;10746781;10940905;11265639;11489943;11513152;11556966;11602640;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12351833;12483297;12588680;12645956;12653925;12668644;12731048;12776204;12791260;14707061;14719373;14970179;15034010;15136729;15155468;15187158;15265913;15304001;15534202;15541655;15557162;15580655;15607800;15778510;15781451;15800062;15851719;15864273;15884055;15940674;16014749;16091383;16129954;16339513;16380601;16551255;16623599;16737824;16754721;16893496;16904340;16920917;16928187;16933987;17012248;17045824;17057721;17110943;17202323;17237375;17337780;17483134;17641029;18031695;18037897;18055229;18209062;18234675;18593354;18624290;18629938;19149696;19359216;19592130;19858347;20093094;20730098;20865034;20890284;21241660;21800138;21841309;21877119;22396535;23695528;23929856;23958951;24305946;24397554;25703557;25716998;25880248;26284469;26300885;27920218;28514659;28904123;29242379;29393594;29557506;30410026;31024551;31134055;31989589;32229590;32357974;33298915;33912179;38615318;7531291;7542404;8178173;8995416;9285412;9314561;9490415;9625766;9655483;9700512;9730896", "class_list": "", "function": "Crystallization and preliminary crystallographic characterization of the extracellular Ig-like domain of human natural killer cell activating receptor, [RefSeq, PubMed]; Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis., [UniProtKB, PubMed]; Homology of the gene on chromosome 6, close to MHC class I loci to the most common bacterium in postdiarrheal Reiter's syndrome may be significan, [RefSeq, PubMed]; Human NKp44(+) Group 3 Innate Lymphoid Cells Associate with Tumor-Associated Tertiary Lymphoid Structures in Colorectal Cancer., [RefSeq, PubMed]; Low-dose IL-2 induces CD56(bright) NK regulation of T cells via NKp44 and NKp46., [RefSeq, PubMed]; NKp44-NKp44 Ligand Interactions in the Regulation of Natural Killer Cells and Other Innate Lymphoid Cells in Humans. Review article Publication Status: Online-Only, [RefSeq, PubMed]; NKp44/HLA-DP-dependent regulation of CD8 effector T cells by NK cells., [RefSeq, PubMed]; Selective cross-talk among natural cytotoxicity receptors (NKp46, NKp30 and NKp44) in human natural killer cells., [RefSeq, PubMed]; The Natural Cytotoxicity Receptors in Health and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The human TREM gene cluster at 6p21.1 encodes both activating and inhibitory single IgV domain receptors and includes NKp44., [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": 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": "Q9H562;Q9H563;Q9H564;Q9UMT1;Q9UMT2", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007165 signal transduction;GO:0006968 cellular defense response", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "O95944-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJD7-1", "uniprot_id": [ { "id": "PEPA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJD7", "type": "external" } ], "mass": 41977.0, "length": 388, "protein_name": "Pepsin A-4", "gene_name": "PGA3; PGA4", "organism": "Human", "refseq_name": "pepsin A-4 preproprotein", "refseq_ac": [ { "id": "NP_001073276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073276", "type": "external" } ], "gene_names_uniprotkb": "PGA3; PGA4; PGA3; PGA4", "gene_names_refseq": "PGA4", "protein_names_uniprotkb": "Pepsin A-4; 3.4.23.1; Pepsinogen-4", "protein_names_refseq": "pepsin A-4 preproprotein; pepsin A-4; pepsinogen 4, group I (pepsinogen A); pepsinogen-4; pregnancy-associated glycoprotein", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:643847); (R-HSA-5683826)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;11237011;11278984;11563989;12185598;12882447;1325798;1339284;1415726;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;18020944;18692472;1898081;19100526;19144824;1928448;19824815;20054143;20147294;20338813;20418254;23069847;23590306;23684610;23922714;2415509;24743970;2515193;25424900;2587265;2610270;2714789;2995821;3037072;3197840;32157095;32938616;32983136;3366248;34087483;34171305;34631;34932366;35051231;35580925;3755136;37938771;3801783;4909888;6300126;7597036;7663352;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "", "function": "Shows particularly broad specificity; although bonds involving phenylalanine and leucine are preferred, many others are also cleaved to some extent., [UniProtKB]; This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 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": "A8K749;B7ZW75;P00790;Q7M4R0;Q8N1E3", "ec_number_list": [ { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "3.4.23.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.1", "type": "external" } ], "go_molecular_function": "GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0097486 multivesicular body lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P0DJD7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96011-1", "uniprot_id": [ { "id": "PX11B_HUMAN", "url": "https://www.uniprot.org/uniprot/O96011", "type": "external" } ], "mass": 28431.0, "length": 259, "protein_name": "Peroxisomal membrane protein 11B", "gene_name": "PEX11B", "organism": "Human", "refseq_name": "peroxisomal membrane protein 11B isoform 2", "refseq_ac": [ { "id": "NP_001171724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171724", "type": "external" } ], "gene_names_uniprotkb": "PEX11B", "gene_names_refseq": "PEX11-BETA; PEX11B; PEX11beta; PEX14B", "protein_names_uniprotkb": "Peroxisomal membrane protein 11B; PEX11-beta; Peroxin-11B; Peroxisomal biogenesis factor 11B; Protein PEX11 homolog beta", "protein_names_refseq": "peroxin-11B; peroxisomal biogenesis factor 11B; peroxisomal membrane protein 11B isoform 2; peroxisomal membrane protein 11B; protein PEX11 homolog beta", "tax_id": 9606, "disease": "peroxisome biogenesis disorder 14B (Disease Ontology:DOID:0081274); Zellweger syndrome (Disease Ontology:DOID:905)", "pathway": " (hsa:8799); (R-HSA-9603798)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10430017;10704444;11237011;11390669;11402059;11453642;11590176;11883941;12618434;12751901;12924628;14709540;15007061;15713480;15781447;16280322;16791427;16895967;16980692;17069900;18174172;18782765;19608861;20531392;20554521;20826455;21102411;22299025;22581968;22624858;23460677;23628762;25062251;25418920;25517356;25892735;26777132;28281558;28325759;29242379;29314611;30315122;30573663;31020640;31092671;31154438;31844290;32161166;32350084;33298915;33592498;33691108;33912179;34357683;35051231;35132862;35154160;35678336;36522796;37217939;38423277;38753762;9418908;9792670;9826565", "class_list": "", "function": "Genetic defects in peroxisome morphogenesis (Pex11beta, dynamin-like protein 1, and nucleoside diphosphate kinase 3) affect docosahexaenoic acid-phospholipid metabolism., [RefSeq, PubMed]; Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455)., [UniProtKB, PubMed, PubMed, PubMed]; PEX11beta and FIS1 cooperate in peroxisome division independently of mitochondrial fission factor., [RefSeq, PubMed]; PPARgamma dependent PEX11beta counteracts the suppressive role of SIRT1 on neural differentiation of HESCs. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]; Two siblings with PEX11B-related peroxisome biogenesis disorder., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KN85;B4DXH9;Q96ET2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0016559 peroxisome fission;GO:0007031 peroxisome organization;GO:0044375 regulation of peroxisome size", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O96011-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPE6-1", "uniprot_id": [ { "id": "SPAG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPE6", "type": "external" } ], "mass": 48165.0, "length": 437, "protein_name": "Sperm-associated antigen 4 protein", "gene_name": "SPAG4", "organism": "Human", "refseq_name": "sperm-associated antigen 4 protein isoform 1", "refseq_ac": [ { "id": "NP_003107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003107", "type": "external" } ], "gene_names_uniprotkb": "SPAG4; SUN4", "gene_names_refseq": "CT127; SPAG4; SUN4", "protein_names_uniprotkb": "Sperm-associated antigen 4 protein; Outer dense fiber-associated protein SPAG4; SUN domain-containing protein 4", "protein_names_refseq": "SUN domain-containing protein 4; Sad1 and UNC84 domain containing 4; acrosomal protein ACR55; cancer/testis antigen 127; outer dense fiber-associated protein SPAG4; sperm tail protein; sperm-associated antigen 4 protein isoform 1; sperm-associated antigen 4 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6676)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;14614621;23602831;25775403;28904123;29242379;29493099;29786170;29901114;30817682;31144711;31611695;32157095;32350084;32357974;32938616;33298915;33592498;33912179;33968037;34311595;34357683;34509645;35051231;35251023;9691178", "class_list": "", "function": "Human sperm-associated antigen 4 as a potential prognostic biomarker of lung squamous cell carcinoma., [RefSeq, PubMed]; Involved in spermatogenesis. Required for sperm head formation but not required to establish and maintain general polarity of the sperm head. Required for anchoring and organization of the manchette. Required for targeting of SUN3 and probably SYNE1 through a probable SUN1:SYNE3 LINC complex to the nuclear envelope and involved in accurate posterior sperm head localization of the complex. May anchor SUN3 the nuclear envelope. Involved in maintenance of the nuclear envelope integrity. May assist the organization and assembly of outer dense fibers (ODFs), a specific structure of the sperm tail., [UniProtKB, UniProtKB, UniProtKB]; Our study revealed that SPAG4 was identified as a cancer biomarker for glioblastoma and might be a promising target for clinical diagnosis and intervention of glioblastoma., [RefSeq, PubMed]; Results indicate that sperm associated antigen 4 (SPAG4L/SPAG4Lbeta) transcript isoform interacts with spectrin repeat containing nuclear envelope protein 2 (Nesprin2) in the meiotic process., [RefSeq, PubMed]; SPAG4 is an independent prognostic factor in renal cell carcinoma and plays a crucial role in cytokinesis to defend against hypoxia-induced tetraploid formation., [RefSeq, PubMed]; SPAG4, in cooperation with Nesprin3, has a fundamental pathological function in the migration of lung carcinoma cells., [RefSeq, PubMed]; The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "O43648", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005856 cytoskeleton;GO:0005637 nuclear inner membrane;GO:0034993 meiotic nuclear membrane microtubule tethering complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NPE6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99954-1", "uniprot_id": [ { "id": "SMR3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99954", "type": "external" } ], "mass": 14048.0, "length": 134, "protein_name": "Submaxillary gland androgen-regulated protein 3A", "gene_name": "SMR3A", "organism": "Human", "refseq_name": "submaxillary gland androgen-regulated protein 3A precursor", "refseq_ac": [ { "id": "NP_036522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036522", "type": "external" } ], "gene_names_uniprotkb": "SMR3A; PBI; PROL5", "gene_names_refseq": "P-B1; PBI; PRL5; PROL5; SMR3A", "protein_names_uniprotkb": "Submaxillary gland androgen-regulated protein 3A; Proline-rich protein 5; Proline-rich protein PBI", "protein_names_refseq": "proline rich 5 (salivary); proline- rich protein 5; proline-rich protein PBI; protein homologous to salivary proline-rich protein P-B; submaxillary gland androgen regulated protein 3 homolog A; submaxillary gland androgen-regulated protein 3A precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:26952)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "40667337;17512016;18410445;26851015;28166815;9354371", "class_list": "", "function": "All members of the human opiorphin family of genes can potentially modulate erectile physiology. Both hSMR3 and ProL1 are down-regulated in the corpora of men with ED, and therefore both genes can potentially act as markers of ED., [RefSeq, PubMed]; High SMR3A expression is associated with aberrant differentiation into mucosal- or glandular-like cells in Adenoid Cystic Carcinoma of the Head and Neck. Erratum:[Anticancer Res. 2016 Mar;36(3):1445. Quaas, Alexander [added]. PMID: 26977049], [RefSeq, PubMed]; May play a role in protection or detoxification., [UniProtKB]; Results show prominent SMR3A expression in head and neck squamous cell carcinoma, which was accompanied by an up-regulation of ESR2. These data suggest a critical role of ESR2 in radio-resistance and that SMR3A might serve as a surrogate marker for active ESR2 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that hSMR3A can act as a marker for erectile dysfunction associated with both diabetic and non-diabetic etiologies., [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 8030, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0051930 regulation of sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q99954-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXF6-1", "uniprot_id": [ { "id": "RFIP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXF6", "type": "external" } ], "mass": 70415.0, "length": 653, "protein_name": "Rab11 family-interacting protein 5", "gene_name": "RAB11FIP5", "organism": "Human", "refseq_name": "rab11 family-interacting protein 5 isoform 2", "refseq_ac": [ { "id": "NP_056285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056285", "type": "external" } ], "gene_names_uniprotkb": "RAB11FIP5; GAF1; KIAA0857; RIP11", "gene_names_refseq": "GAF1; RAB11FIP5; RIP11; gaf-1; pp75; rab11-FIP5", "protein_names_uniprotkb": "Rab11 family-interacting protein 5; Gaf-1; Gamma-SNAP-associated factor 1; Phosphoprotein pp75; Rab11-FIP5; Rab11-interacting protein Rip11", "protein_names_refseq": "RAB11 family interacting protein 5 (class I); gamma-SNAP-associated factor 1; phosphoprotein pp75; rab11 family-interacting protein 5 isoform 2; rab11 family-interacting protein 5; rab11-interacting protein Rip11", "tax_id": 9606, "disease": "", "pathway": " (hsa:26056)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10545525;11163216;11237011;11278501;12470645;17081983;18578522;18669648;19413330;19651622;19664994;20068231;20717956;22445341;23186163;24591568;25576301;25645385;27869121;28218747;28832583;29242379;29437277;29493099;29557506;29786170;30379171;30429286;31154438;31848261;32157095;32161166;32938616;33172842;33315947;33592498;33968037;34087483;34171305;34638806;35051231;36010968;37217939;39302247;40596516", "class_list": "", "function": "Host RAB11FIP5 protein inhibits the release of Kaposi's sarcoma-associated herpesvirus particles by promoting lysosomal degradation of ORF45. Publication Status: Online-Only, [RefSeq, PubMed]; RAB11FIP5-Deficient Mice Exhibit Cytokine-Related Transcriptomic Signatures. Publication Status: Online-Only, [RefSeq, PubMed]; Rab effector involved in protein trafficking from apical recycling endosomes to the apical plasma membrane. Involved in insulin granule exocytosis. May regulate V-ATPase intracellular transport in response to extracellular acidosis., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination. 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": 26, "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": "O94939;Q9P0M1", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0070164 negative regulation of adiponectin secretion;GO:0045055 regulated exocytosis;GO:0071468 cellular response to acidic pH;GO:2000008 regulation of protein localization to cell surface;GO:0035773 insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9BXF6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BH1-1", "uniprot_id": [ { "id": "RNF25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BH1", "type": "external" } ], "mass": 51219.0, "length": 459, "protein_name": "E3 ubiquitin-protein ligase RNF25", "gene_name": "RNF25", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF25", "refseq_ac": [ { "id": "NP_071898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071898", "type": "external" } ], "gene_names_uniprotkb": "RNF25", "gene_names_refseq": "AO7; RNF25", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF25; 2.3.2.27; RING finger protein 25; RING finger protein AO7", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF25; RING-type E3 ubiquitin transferase RNF25; ring finger protein AO7", "tax_id": 9606, "disease": "", "pathway": " (hsa:64320); (R-HSA-983168)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10500182;11062501;11237011;11350924;12646216;12748188;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17924679;18212344;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20068231;2261476;23186163;23301498;24715725;25418920;25576301;26375851;26475854;26992070;28228285;28832583;28904123;29242379;29557506;30315122;30429286;30484775;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32387766;32488085;33298915;33392160;33717175;33912179;34185709;35051231;35318648;35580925;36010968;36638793;37651229;37938771;37951216;38286671;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase that plays a key role in the RNF14-RNF25 translation quality control pathway, a pathway that takes place when a ribosome has stalled during translation, and which promotes ubiquitination and degradation of translation factors on stalled ribosomes (PubMed:36638793, PubMed:37651229, PubMed:37951216). Catalyzes ubiquitination of RPS27A in response to ribosome collisions, promoting activation of RNF14 (PubMed:36638793). RNF25 catalyzes ubiquitination of other ribosomal proteins on stalled ribosomes, such as RPL0, RPL1, RPL12, RPS13 and RPS17 (PubMed:36638793). Also involved in ubiquitination and degradation of stalled ETF1/eRF1 (PubMed:36638793, PubMed:37651229). Independently of its function in the response to stalled ribosomes, mediates ubiquitination and subsequent proteasomal degradation of NKD2 (By similarity). May also stimulate transcription mediated by NF-kappa-B via its interaction with RELA/p65 (PubMed:12748188)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Functional studies of the mouse counterpart, [RefSeq, PubMed]; Oxidative Stress Promotes Liver Cancer Metastasis via RNF25-Mediated E-Cadherin Protein Degradation., [RefSeq, PubMed]; RING finger protein AO7 supports NF-kappaB-mediated transcription by interacting with the transactivation domain of the p65 subunit., [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [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": 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": "A8K0D6;Q53HQ5;Q9H874", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051059 NF-kappaB binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0085020 protein K6-linked ubiquitination;GO:0160127 protein-RNA covalent cross-linking repair", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96BH1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB20-1", "uniprot_id": [ { "id": "PKHA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB20", "type": "external" } ], "mass": 33861.0, "length": 300, "protein_name": "Pleckstrin homology domain-containing family A member 3", "gene_name": "PLEKHA3", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family A member 3", "refseq_ac": [ { "id": "NP_061964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061964", "type": "external" } ], "gene_names_uniprotkb": "PLEKHA3; FAPP1", "gene_names_refseq": "FAPP1; PLEKHA3", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family A member 3; FAPP-1; PH domain-containing family A member 3; Phosphatidylinositol-four-phosphate adapter protein 1; Phosphoinositol 4-phosphate adapter protein 1", "protein_names_refseq": "FAPP-1; PH domain-containing family A member 3; four-phosphate-adaptor protein 1; phosphatidylinositol-four-phosphate adapter protein 1; phosphoinositol 4-phosphate adapter protein 1; pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3; pleckstrin homology domain-containing family A member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:65977); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16914545;16979564;17008356;17245604;17651088;18093523;18669648;18753295;19038970;19896968;20300118;20534812;21204784;21298564;21454700;22037487;22647598;23186163;23481700;23519112;23758345;24462251;25495341;25576301;28832583;29242379;29485866;30659099;31217245;31844290;32157095;32502341;32938616;33298915;33936100;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Binding sites on Fapp1 protein for Arf1 and phosphatidylinositol-4-phosphate minimally overlap, [RefSeq, PubMed]; Data show that FAPP1 and 2 are essential components of a phosphatidylinositol 4-phosphate- and ADP-ribosylation factor-regulated machinery that controls generation of constitutive post-Golgi carriers., [RefSeq, PubMed]; Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain., [RefSeq, PubMed]; Plays a role in regulation of vesicular cargo transport from the trans-Golgi network (TGN) to the plasma membrane (PubMed:15107860). Regulates Golgi phosphatidylinositol 4-phosphate (PtdIns(4)P) levels and activates the PtdIns(4)P phosphatase activity of SACM1L when it binds PtdIns(4)P in 'trans' configuration (PubMed:30659099). Binds preferentially to PtdIns(4)P (PubMed:11001876, PubMed:15107860). Negatively regulates APOB secretion from hepatocytes (PubMed:30659099)., [UniProtKB, PubMed, PubMed, PubMed]; The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1., [RefSeq, PubMed]; We report the complete (1)H, (13)C and (15)N resonance assignments of the FAPP1-PH in its free state and those induced by PtdIns(4)P or detergent micelles., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG69;Q86TQ1;Q9NXT3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0055037 recycling endosome", "go_biological_process": "GO:0007032 endosome organization;GO:0006661 phosphatidylinositol biosynthetic process;GO:0001881 receptor recycling;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9HB20-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCD5-1", "uniprot_id": [ { "id": "NCOA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCD5", "type": "external" } ], "mass": 65536.0, "length": 579, "protein_name": "Nuclear receptor coactivator 5", "gene_name": "NCOA5", "organism": "Human", "refseq_name": "nuclear receptor coactivator 5 isoform 1", "refseq_ac": [ { "id": "NP_066018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066018", "type": "external" } ], "gene_names_uniprotkb": "NCOA5; KIAA1637", "gene_names_refseq": "CIA; NCOA5; bA465L10.6", "protein_names_uniprotkb": "Nuclear receptor coactivator 5; CIA; Coactivator independent of AF-2; NCoA-5", "protein_names_refseq": "NCoA-5; coactivator independent of AF-2; nuclear receptor coactivator 5 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57727)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "10.1101/2023.09.13.557529;11113208;11237011;15073177;16094384;17081983;17287340;17890166;18669648;19413330;19651622;19690332;20068231;20650312;21406692;22121020;23186163;23301498;24275569;24366607;25576301;26154972;28514659;28832583;28904123;29237092;29242379;29351928;29557506;29632711;29786170;30059200;30335900;30379171;30429286;30779550;30833945;31154438;31492838;31844290;31848261;32119511;32157095;32161166;32357974;32387766;32574038;32938616;32983136;33214551;33537174;33573580;33592498;33912179;33968037;33981976;34019948;34087483;34255592;34561969;34932366;35051231;35132862;35138101;35254053;35289036;35513511;35561310;35580925;35705054;36010968;36228153;36284347;37541260;37734594;37817021;37938771;38253038;38665916;38838015;39302247;39531497;39534244;40307207;40596516", "class_list": "", "function": "Analysis of Nuclear Receptor Coactivator 5 (NCOA5) Messenger RNA Expression and rs2903908 Single Nucleotide Polymorphism of NCOA5 in an Egyptian Cohort with Behcet's Disease: A Single-Center Case-control Study., [RefSeq, PubMed]; Could NCOA5 a novel candidate gene for multiple sclerosis susceptibility?, [RefSeq, PubMed]; NCOA5 Haploinsufficiency in Myeloid-Lineage Cells Sufficiently Causes Nonalcoholic Steatohepatitis and Hepatocellular Carcinoma., [RefSeq, PubMed]; Nuclear Receptor Coactivator 5 is Correlated with Progression in Breast Carcinoma., [RefSeq, PubMed]; Nuclear receptor coregulator that can have both coactivator and corepressor functions. Interacts with nuclear receptors for steroids (ESR1 and ESR2) independently of the steroid binding domain (AF-2) of the ESR receptors, and with the orphan nuclear receptor NR1D2. Involved in the coactivation of nuclear steroid receptors (ER) as well as the corepression of MYC in response to 17-beta-estradiol (E2)., [UniProtKB, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Results found the expression levels of NCOA5 mRNA and protein significantly decreased in cervical cancer (CC) tissues and correlated with poor overall survival. Its upregulation might suppress cancer cell proliferation, migration, and invasion by inactivating NOTCH3 signaling pathway. These findings suggest that NCOA5 acts as a tumor suppressor and represents a potential novel prognostic marker for overall survival in CC., [RefSeq, PubMed]; This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [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": 1, "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": 24, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 24, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "B2RTV9;E1P5R0;Q6HA99;Q9H1F2;Q9H2T2;Q9H4Y9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q9HCD5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L4L8-1", "uniprot_id": [ { "id": "PL8L1_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L4L8", "type": "external" } ], "mass": 19885.0, "length": 177, "protein_name": "PLAC8-like protein 1", "gene_name": "PLAC8L1", "organism": "Human", "refseq_name": "PLAC8-like protein 1", "refseq_ac": [ { "id": "NP_001025040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025040", "type": "external" } ], "gene_names_uniprotkb": "PLAC8L1", "gene_names_refseq": "PLAC8L1", "protein_names_uniprotkb": "PLAC8-like protein 1", "protein_names_refseq": "PLAC8-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:153770)", "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": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A1L4L8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULI4-1", "uniprot_id": [ { "id": "KI26A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULI4", "type": "external" } ], "mass": 194590.0, "length": 1882, "protein_name": "Kinesin-like protein KIF26A", "gene_name": "KIF26A", "organism": "Human", "refseq_name": "kinesin-like protein KIF26A", "refseq_ac": [ { "id": "NP_056471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056471", "type": "external" } ], "gene_names_uniprotkb": "KIF26A; KIAA1236", "gene_names_refseq": "CDCBM11; KIF26A", "protein_names_uniprotkb": "Kinesin-like protein KIF26A", "protein_names_refseq": "KIF26A variant protein; kinesin-like protein KIF26A", "tax_id": 9606, "disease": "complex cortical dysplasia with other brain malformations 11 (Disease Ontology:DOID:0061142)", "pathway": " (hsa:26153); (R-HSA-2132295); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 4, "publication_count": 197, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10809954;10921873;11172815;11237011;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12198549;12368902;12742663;12748383;1406973;14504276;14654841;14731593;15029241;15037235;15272311;15326200;15616190;15632110;15749704;15813748;15911768;16030262;1607388;16181339;16242130;16262723;1631136;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;17081983;17113389;17142755;17253781;17283181;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18287528;18292509;18342609;18524849;18809720;1898986;18991276;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1956401;19564404;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;2142332;21441454;21550981;21689688;21844168;2190094;22013193;22094269;22304919;23186163;23396477;2391366;24715725;2521221;2522352;25364732;25436559;25492864;26154972;26375851;26992070;27862975;27920218;28832583;29242379;31154438;3130248;3134048;31530632;31848261;32157095;32161166;32938616;33717175;33912179;33968037;34087483;35051231;36010968;36228617;36564622;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9751720;9990005", "class_list": "", "function": "Atypical kinesin that plays a key role in enteric neuron development. Acts by repressing a cell growth signaling pathway in the enteric nervous system development, possibly via its interaction with GRB2 that prevents GRB2-binding to SHC, thereby attenating the GDNF-Ret signaling (By similarity). Binds to microtubules but lacks microtubule-based motility due to the absence of ATPase activity (By similarity). Plays a critical role in cerebral cortical development. It probably acts as a microtubule stabilizer that regulates neurite growth and radial migration of cortical excitatory neurons (PubMed:36228617)., [UniProtKB, PubMed, UniProtKB]; KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon., [RefSeq, PubMed]; Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "Q8TAZ7;Q96GK3;Q9UFL3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0003777 microtubule motor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0048484 enteric nervous system development;GO:0001560 regulation of cell growth by extracellular stimulus;GO:0021987 cerebral cortex development;GO:0009968 negative regulation of signal transduction;GO:0010975 regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "Q9ULI4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13823-1", "uniprot_id": [ { "id": "NOG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13823", "type": "external" } ], "mass": 83655.0, "length": 731, "protein_name": "Nucleolar GTP-binding protein 2", "gene_name": "GNL2", "organism": "Human", "refseq_name": "nucleolar GTP-binding protein 2 isoform 1", "refseq_ac": [ { "id": "NP_037417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037417", "type": "external" } ], "gene_names_uniprotkb": "GNL2; NGP1", "gene_names_refseq": "GNL2; HUMAUANTIG; NGP1; Ngp-1; Nog2; Nug2", "protein_names_uniprotkb": "Nucleolar GTP-binding protein 2; Autoantigen NGP-1", "protein_names_refseq": "autoantigen NGP-1; guanine nucleotide binding protein-like 2 (nucleolar); novel nucleolar guanosine 5'-triphosphate binding protein autoantigen; nucleolar G-protein gene 1; nucleolar GTP-binding protein 2 isoform 1; nucleolar GTP-binding protein 2; nucleolar GTPase; nucleostemin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:29889)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;12429849;17081983;18452278;21495629;22645359;23783831;24366607;24714562;24715725;25418920;25452588;25576301;25880248;26154972;26203195;26375851;26992070;27846572;28063628;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;29786170;30410026;30429286;30484775;31154438;31217245;31844290;31848261;32157095;32161166;32265295;32357974;32488085;32502341;32522876;32669547;32897882;32938616;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34171305;34185709;34337013;34561969;34932366;34965383;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36240223;36241641;36284347;37217939;40596516;8822211", "class_list": "", "function": "Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer., [RefSeq, PubMed]; GNL2 and SEC13 are required for nonsense-mediated mRNA decay pathway in human cells., [RefSeq, PubMed]; GTPase that associates with pre-60S ribosomal subunits in the nucleolus and is required for their nuclear export and maturation (PubMed:32669547). May promote cell proliferation possibly by increasing p53/TP53 protein levels, and consequently those of its downstream product CDKN1A/p21, and decreasing RPL23A protein levels (PubMed:26203195)., [UniProtKB, PubMed, PubMed]; NGP-1 promotes cell cycle progression through the activation of the p53/p21(Cip-1/Waf1) pathway., [RefSeq, PubMed]; Study of the G Protein Nucleolar 2 Value in Liver Hepatocellular Carcinoma Treatment and Prognosis. 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": 7, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 24, "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": "Q9BWN7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q13823-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6L8G4-1", "uniprot_id": [ { "id": "KR511_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6L8G4", "type": "external" } ], "mass": 14610.0, "length": 156, "protein_name": "Keratin-associated protein 5-11", "gene_name": "KRTAP5-11", "organism": "Human", "refseq_name": "keratin-associated protein 5-11", "refseq_ac": [ { "id": "NP_001005405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005405", "type": "external" } ], "gene_names_uniprotkb": "KRTAP5-11; KAP5.11; KRTAP5.11", "gene_names_refseq": "KRTAP5-11; KRTAP5-6; KRTAP5.11", "protein_names_uniprotkb": "Keratin-associated protein 5-11; Keratin-associated protein 5.11; Ultrahigh sulfur keratin-associated protein 5.11", "protein_names_refseq": "keratin-associated protein 5-11; keratin-associated protein 5.11; ultrahigh sulfur keratin-associated protein 5.11", "tax_id": 9606, "disease": "", "pathway": " (hsa:440051); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "15144888;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 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6L8G4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51151-1", "uniprot_id": [ { "id": "RAB9A_HUMAN", "url": "https://www.uniprot.org/uniprot/P51151", "type": "external" } ], "mass": 22838.0, "length": 201, "protein_name": "Ras-related protein Rab-9A", "gene_name": "RAB9A", "organism": "Human", "refseq_name": "ras-related protein Rab-9A", "refseq_ac": [ { "id": "NP_001182257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182257", "type": "external" } ], "gene_names_uniprotkb": "RAB9A; RAB9", "gene_names_refseq": "RAB9A; RAB9", "protein_names_uniprotkb": "Ras-related protein Rab-9A; 3.6.5.2", "protein_names_refseq": "RAB9, member RAS oncogene family; ras-related protein Rab-9A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9367); (R-HSA-6811440); (R-HSA-8873719); (R-HSA-8876198); (R-HSA-9706019)", "pathway_count": 5, "publication_count": 313, "publication_id_list": "10209123;10445031;10559959;10637310;10818110;10865125;10990452;11038176;11141079;11179213;11237011;11303027;11346801;11359012;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11827983;11839770;11917121;12058051;12070132;12221131;12244319;12364329;12377769;12427552;12475894;12620188;12620189;12684051;12944476;12972505;14580338;14718928;15029241;15037235;15077113;15077114;15096524;15128430;15138286;1516130;15247254;15263003;15269279;15388334;15483056;15528189;15561770;15654769;15692570;15758030;15870108;15878329;15914536;15958533;16042553;16129887;16176980;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16571679;16641372;16754960;16880209;16885419;16912714;16936697;16950109;17043139;17081983;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17451557;17488286;17488291;17562788;17574030;17646400;17671165;17678623;17684057;17698061;18076383;18094055;18195106;18243103;18256213;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18664496;18669648;18701652;18779367;18804435;18946081;1900457;19019082;19109890;19164740;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20048159;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20685960;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21255211;21273506;21330364;21421921;21436057;21445324;21458671;21532587;21554507;21586568;21654843;21683469;21689688;21706022;21718402;21776405;21807881;21808068;21951725;22013193;22065758;22072793;22171327;22245496;22335553;22354037;22365832;22433857;22511774;22581368;22595670;22622570;22637480;22648168;22653444;22694141;22705394;22709582;22717455;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23437303;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24023390;24145166;24275569;24296415;24644286;24694596;24719330;24794632;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25502872;25505266;25648148;25713415;25925668;26055712;26154972;26177209;26215701;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27846572;27920218;28649982;28832583;29242379;29317506;29557506;29632711;30410026;31217245;31530632;31844290;32350084;32938616;33717175;33912179;33968037;34078123;34087483;34357683;34433824;34610499;34793709;34932366;35051231;35154160;35251023;37703297;38665916;38752371;7688123;7909812;7911226;7957092;7991565;8144603;8164745;8221884;8349690;8375503;8408203;8440258;8513495;8522602;8620540;8631982;8636227;8662963;8670882;8836150;8863739;9020086;9020161;9030515;9050864;9126495;9136770;9177194;9230071;9323142;9590177;9733780", "class_list": "", "function": "CALCOCO2/NDP52 associates with RAB9 to initiate an antiviral response to hepatitis B virus infection through a lysosomal degradation pathway., [RefSeq, PubMed]; Noncanonical Rab9a action supports retromer-mediated endosomal exit of human papillomavirus during virus entry. Publication Status: Online-Only, [RefSeq, PubMed]; Rab9 Mediates Pancreatic Autophagy Switch From Canonical to Noncanonical, Aggravating Experimental Pancreatitis., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB9A is involved in the transport of proteins between the endosomes and the trans-Golgi network (TGN) (PubMed:34793709). Specifically uses NDE1/NDEL1 as an effector to interact with the dynein motor complex in order to control retrograde trafficking of RAB9-associated late endosomes to the TGN (PubMed:34793709). Involved in the recruitment of SGSM2 to melanosomes and is required for the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 14, "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": "A8K390;Q6ICN1", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015031 protein transport;GO:0032880 regulation of protein localization;GO:0006898 receptor-mediated endocytosis;GO:0042147 retrograde transport, endosome to Golgi;GO:0032482 Rab protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 31.6, "record_id": "P51151-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27169-1", "uniprot_id": [ { "id": "PON1_HUMAN", "url": "https://www.uniprot.org/uniprot/P27169", "type": "external" } ], "mass": 39731.0, "length": 355, "protein_name": "Serum paraoxonase/arylesterase 1", "gene_name": "PON1", "organism": "Human", "refseq_name": "serum paraoxonase/arylesterase 1", "refseq_ac": [ { "id": "NP_000437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000437", "type": "external" } ], "gene_names_uniprotkb": "PON1; PON", "gene_names_refseq": "ESA; MVCD5; PON1; PON", "protein_names_uniprotkb": "Serum paraoxonase/arylesterase 1; 3.1.1.2; 3.1.1.81; 3.1.8.1; A-esterase 1; Aromatic esterase 1; K-45; PON 1; Serum aryldialkylphosphatase 1", "protein_names_refseq": "A-esterase 1; K-45; PON 1; aromatic esterase 1; arylesterase 1; arylesterase B-type; esterase A; paraoxonase B-type; serum aryldiakylphosphatase; serum aryldialkylphosphatase 1; serum paraoxonase/arylesterase 1", "tax_id": 9606, "disease": "vitamin B12 deficiency (Disease Ontology:DOID:0050731); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); cerebral cavernous malformation (Disease Ontology:DOID:0060669); bone disease (Disease Ontology:DOID:0080001); beta-thalassemia major (Disease Ontology:DOID:0080771); keratoconus (Disease Ontology:DOID:10126); prostate cancer (Disease Ontology:DOID:10283); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); glucose intolerance (Disease Ontology:DOID:10603); celiac disease (Disease Ontology:DOID:10608); Alzheimer's disease (Disease Ontology:DOID:10652); open-angle glaucoma (Disease Ontology:DOID:1067); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); sickle cell anemia (Disease Ontology:DOID:10923); IgA vasculitis (Disease Ontology:DOID:11123); diabetic angiopathy (Disease Ontology:DOID:11713); iron deficiency anemia (Disease Ontology:DOID:11758); beta thalassemia (Disease Ontology:DOID:12241); Sjogren's syndrome (Disease Ontology:DOID:12894); dementia (Disease Ontology:DOID:1307); Behcet's disease (Disease Ontology:DOID:13241); exfoliation syndrome (Disease Ontology:DOID:13641); capillary leak syndrome (Disease Ontology:DOID:14400); breast cancer (Disease Ontology:DOID:1612); retinal vein occlusion (Disease Ontology:DOID:1727); atherosclerosis (Disease Ontology:DOID:1936); arteriosclerosis (Disease Ontology:DOID:2349); anemia (Disease Ontology:DOID:2355); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); hyperglycemia (Disease Ontology:DOID:4195); macular degeneration (Disease Ontology:DOID:4448); allergic rhinitis (Disease Ontology:DOID:4481); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); abdominal aortic aneurysm (Disease Ontology:DOID:7693); cataract (Disease Ontology:DOID:83); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:5444); (R-HSA-2142688); (R-HSA-9754706)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10479665;10549853;10601278;11038166;11115402;11237011;11950779;12783936;14760718;15098021;15497697;15772423;15801541;16002382;16335952;16531243;1657140;1673382;16775186;1718413;17428620;18720283;18987736;19082953;19159218;19379515;19794410;21229382;21278621;21308654;21852972;21887553;22367101;22976839;23090970;23531488;23562342;24190977;24279413;24799396;24972570;25684529;26254371;26412035;26884950;27019599;28445984;29391424;29557506;29632711;29671580;29741879;29769354;29789417;3006030;31154438;3118366;31373491;3164719;31844290;32125861;32157095;32983136;34045219;34357683;37074911;37217939;38253038;38874244;38927649;38946375;39059369;39062650;6816802;7638166;7916578;8098250;8292612;8382160;8393742;8393745;8428933;8812495;9261565;9414488", "class_list": "", "function": "At the end, it is POT1 again: Phosphorylation allows human telomeric protein POT1 to recruit the C-rich strand end replication machinery., [RefSeq, PubMed]; Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation., [UniProtKB, PubMed, PubMed]; PON1 rs662, rs854560 and TRIB1 rs17321515, rs2954029 Gene Polymorphisms Are Associated with Lipid Parameters in Patients with Unstable Angina. Publication Status: Online-Only, [RefSeq, PubMed]; PON1, APOE and SDF-1 Gene Polymorphisms and Risk of Retinal Vein Occlusion: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; Paraoxonase 1 Activity and Phenotype Distribution in Lumbar Disc Herniation Patients., [RefSeq, PubMed]; This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]., [RefSeq]; [Association of the -c.108C>T and c.192Q>R polymorphisms of the PON1 gene with preeclampsia among Chinese women]., [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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 55, "disease_count": 48, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RA40;Q16052;Q6B0J6;Q9UCB1", "ec_number_list": [ { "id": "3.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.2", "type": "external" }, { "id": "3.1.1.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.81", "type": "external" }, { "id": "3.1.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.8.1", "type": "external" } ], "go_molecular_function": "GO:0004063 aryldialkylphosphatase activity;GO:0102007 acyl-L-homoserine-lactone lactonohydrolase activity;GO:0005543 phospholipid binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0034364 high-density lipoprotein particle;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0046395 carboxylic acid catabolic process;GO:0046434 organophosphate catabolic process;GO:0010875 positive regulation of cholesterol efflux;GO:0009636 response to toxic substance;GO:0046470 phosphatidylcholine metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P27169-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49755-1", "uniprot_id": [ { "id": "TMEDA_HUMAN", "url": "https://www.uniprot.org/uniprot/P49755", "type": "external" } ], "mass": 24976.0, "length": 219, "protein_name": "Transmembrane emp24 domain-containing protein 10", "gene_name": "TMED10", "organism": "Human", "refseq_name": "transmembrane emp24 domain-containing protein 10 precursor", "refseq_ac": [ { "id": "NP_006818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006818", "type": "external" } ], "gene_names_uniprotkb": "TMED10; TMP21", "gene_names_refseq": "P24(DELTA); S31I125; S31III125; TMED10; TMP21; Tmp-21-I; p23; p24d1", "protein_names_uniprotkb": "Transmembrane emp24 domain-containing protein 10; 21 kDa transmembrane-trafficking protein; Protein TMED10; S31I125; S31III125; Tmp-21-I; Transmembrane protein Tmp21; p23; p24 family protein delta-1; p24delta1; p24delta", "protein_names_refseq": "21 kDa transmembrane trafficking protein; p24 family protein delta-1; p24delta1; p24delta; testicular tissue protein Li 206; transmembrane emp24 domain-containing protein 10 precursor; transmembrane emp24 domain-containing protein 10; transmembrane emp24-like trafficking protein 10; transmembrane protein Tmp21", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:10972); (R-HSA-204005); (R-HSA-5694530); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 5, "publication_count": 301, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10052452;10318838;10359607;10376215;10445031;10559958;10559959;10652252;10679020;10747087;10761932;10788476;10825291;10852829;10903204;10921873;10982397;11035026;11035033;11056392;11172815;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;11927603;12047556;12070132;12235121;12237308;12388752;12634853;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;16129679;16303754;1631136;16495487;16571679;16624868;16633337;16641999;16723730;1680566;16912714;16926190;16940185;17005010;17010120;17038314;17074750;17081065;17113389;17192411;17253781;17274799;17287728;17288597;17316621;17360540;17429068;17451557;17499046;17562788;17607000;17684057;17760859;17927562;17956946;18025080;18086915;18182008;18283111;18283113;18287528;18446792;18524849;18809720;18843296;1898986;19015319;19109418;19151722;19164740;19265014;19269366;19296914;19369418;19566487;1957170;19631211;19638414;19656848;19748539;19758564;19837036;19892738;20005805;20136777;20357002;20427317;20462495;20477988;20533886;20534429;20545907;20637885;20679433;20805473;20966969;21219331;21478858;21525241;21532587;21545355;21550981;21689688;21844168;21878990;22013193;22094269;22157747;22304919;22424782;22544926;22661428;22675024;22869377;22898188;23378591;23396477;23479643;23481700;23584533;23698585;23839779;23852824;23864707;24119662;24366607;24714562;24715725;24806965;24917561;25202031;25364732;25406594;25418920;25436559;25469497;25492864;25502872;25576301;25586378;25619252;25619253;25645385;25810538;25813380;25880248;26154972;26375851;26728094;26992070;27397612;27452731;27569046;27600516;27846572;27862975;27920218;28063628;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29774024;29786170;29930882;30001391;30315122;30429286;30459171;30524438;30779550;30833945;31154438;31222486;31530632;31611695;31844290;31848261;31937595;32119511;32157095;32272059;32293333;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;39534244;7596406;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8663406;8663407;8991093;9094723;9114004;9150144;9177194;9244307;9288971;9307973;9323141;9380700;9382861;9382863;9395526;9405360;9472029;9490716;9647643;9671725;9751720;9990005", "class_list": "", "function": "Cargo receptor involved in protein vesicular trafficking and quality control in the endoplasmic reticulum (ER) and Golgi (PubMed:10052452, PubMed:11726511, PubMed:16641999, PubMed:17288597, PubMed:19296914, PubMed:20427317, PubMed:21219331, PubMed:27569046). The p24 protein family is a group of transmembrane proteins that bind coat protein complex I/COPI and coat protein complex II/COPII involved in vesicular trafficking between the membranes (PubMed:10052452). Acts at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and involved in vesicle coat formation at the cytoplasmic side (PubMed:20427317, PubMed:27569046). Mainly functions in the early secretory pathway and cycles between the ER, ER-Golgi intermediate compartment (ERGIC) and Golgi, mediating cargo transport through COPI and COPII-coated vesicles (PubMed:10052452, PubMed:10852829, PubMed:12237308). In COPII vesicle-mediated anterograde transport, involved in the transport of GPI-anchored proteins by acting together with TMED2 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the COPII vesicle coat and lipid raft-like microdomains of the ER (PubMed:20427317, PubMed:27569046). Recognizes GPI anchors structural remodeled in the ER by the GPI inositol-deacylase/PGAP1 and the metallophosphoesterase MPPE1/PGAP5 (By similarity). In COPI vesicle-mediated retrograde transport, involved in the biogenesis of COPI vesicles and vesicle coat recruitment (PubMed:11726511). Involved in trafficking of amyloid beta A4 protein and soluble APP-beta release (independent from the modulation of gamma-secretase activity) (PubMed:17288597). Involved in the KDELR2-mediated retrograde transport of the toxin A subunit (CTX-A-K63)together with COPI and the COOH terminus of KDELR2 (By similarity). On Golgi membranes, acts as a primary receptor for ARF1-GDP, a GTP-binding protein involved in COPI-vesicle formation (PubMed:11726511). Increases coatomer-dependent GTPase-activating activity of ARFGAP2 which mediates the hydrolysis of ARF1-bound GTP and therefore modulates protein trafficking from the Golgi apparatus (PubMed:19296914). Involved in the exocytic trafficking of G protein-coupled receptors F2LR1/PAR2 (trypsin and tryspin-like enzyme receptor), OPRM1 (opioid receptor) and P2RY4 (UTD and UDP receptor) from the Golgi to the plasma membrane, thus contributing to receptor resensitization (PubMed:21219331). In addition to its cargo receptor activity, may also act as a protein channel after oligomerization, facilitating the post-translational entry of leaderless cytoplasmic cargo into the ERGIC (PubMed:32272059). Involved in the translocation into ERGIC, the vesicle entry and the secretion of leaderless cargos (lacking the secretion signal sequence), including the mature form of interleukin 1/IL-1 family members, the alpha-crystallin B chain HSPB5, the carbohydrate-binding proteins galectin-1/LGALS1 and galectin-3/LGALS3, the microtubule-associated protein Tau/MAPT, and the annexin A1/ANXA1; the translocation process is dependent on cargo protein unfolding and enhanced by chaperones HSP90AB1 and HSP90B1/GRP9 (PubMed:32272059). Could also associates with the presenilin-dependent gamma-secretase complex in order to regulate gamma-cleavages of the amyloid beta A4 protein to yield amyloid-beta 40/Abeta40 (PubMed:16641999)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; The circular RNA CDR1as regulate cell proliferation via TMED2 and TMED10. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R6I3;B2R605;B4DL12;G3V2K7;Q15602;Q16536;Q53GF9;Q86TC2;Q86TS5", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding;GO:0008320 protein transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0048205 COPI coating of Golgi vesicle;GO:0006886 intracellular protein transport;GO:0045055 regulated exocytosis;GO:0050714 positive regulation of protein secretion;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 31.2, "record_id": "P49755-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y91-5", "uniprot_id": [ { "id": "KI18B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y91", "type": "external" } ], "mass": 93011.0, "length": 852, "protein_name": "Kinesin-like protein KIF18B", "gene_name": "KIF18B", "organism": "Human", "refseq_name": "kinesin-like protein KIF18B isoform 2", "refseq_ac": [ { "id": "NP_001251503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001251503", "type": "external" } ], "gene_names_uniprotkb": "KIF18B", "gene_names_refseq": "KIF18B", "protein_names_uniprotkb": "Kinesin-like protein KIF18B", "protein_names_refseq": "kinesin-like protein KIF18B isoform 2; kinesin-like protein KIF18B", "tax_id": 9606, "disease": "", "pathway": " (hsa:146909); (R-HSA-6811434); (R-HSA-983189)", "pathway_count": 3, "publication_count": 183, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11172815;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;16912714;16926190;16940185;17113389;17253781;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18182008;18220336;18287528;18342609;18524849;18669648;18691976;18809720;1898986;19015319;19109418;19116309;19151722;19164740;19338388;19369418;1957170;19631211;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20534429;20600703;20637885;21219331;2142332;21550981;21689688;21737685;21820309;21844168;22013193;22094269;22304919;23186163;23396477;23481700;2521221;2522352;25236463;25364732;25418920;25436559;25492864;25645385;26728094;27600516;27862975;27920218;28063628;28218747;28228285;28411811;28649982;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30429286;30524438;30779550;31092671;31217245;31222486;3130248;3134048;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34171305;34211107;34357683;34561969;34932366;35051231;35137670;35580925;36010968;36085568;36241641;37812924;37938771;38305287;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": "Differential Expression of KIF18B in Gastric Cancer and Its Role in Chemotherapy Sensitivity., [RefSeq, PubMed]; High KIF18B expression is associated with neoplasms., [RefSeq, PubMed]; In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules., [UniProtKB, PubMed, PubMed]; Kif18B is a new microtubule dynamics regulatory protein that interacts with EB1 to control astral microtubule length, [RefSeq, PubMed]; Kinesin Family Member B18 Is Related to Gastric Mucin Phenotype and Contributes to Gastric Cancer Progression by Regulating Epithelial-Mesenchymal Transition., [RefSeq, PubMed]; MiR-139-3p/Kinesin family member 18B axis suppresses malignant progression of gastric cancer., [RefSeq, PubMed]; Results uncover a novel role for Aurora A/B kinases in regulating spindle MT dynamics through Kif18b-MCAK and suggest that the Kif18b-MCAK complex constitutes the major MT plus-end depolymerizing activity in mitotic cells., [RefSeq, PubMed]; The expression of KIF18B is regulated in a cell cycle-dependent manner and therefore may play an important role(s) in cell division., [RefSeq, PubMed]; Upregulation of KIF18B facilitates malignant phenotype of esophageal squamous cell carcinoma by activating CDCA8/mTORC1 pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DGP2;A0A0C4DGP5;A6NJI2;B7ZM49;B9EGM8;D5L6I1", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0016887 ATP hydrolysis activity;GO:0019894 kinesin binding;GO:0008574 plus-end-directed microtubule motor activity", "go_cellular_component": "GO:0000235 astral microtubule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0051301 cell division;GO:0007018 microtubule-based movement;GO:0007019 microtubule depolymerization;GO:0000070 mitotic sister chromatid segregation", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "Q86Y91-5", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPH0-1", "uniprot_id": [ { "id": "PPA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPH0", "type": "external" } ], "mass": 48886.0, "length": 428, "protein_name": "Lysophosphatidic acid phosphatase type 6", "gene_name": "ACP6", "organism": "Human", "refseq_name": "lysophosphatidic acid phosphatase type 6 isoform 1", "refseq_ac": [ { "id": "NP_057445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057445", "type": "external" } ], "gene_names_uniprotkb": "ACP6; ACPL1; LPAP; PRO231", "gene_names_refseq": "ACP6; ACPL1; LPAP; PACPL1", "protein_names_uniprotkb": "Lysophosphatidic acid phosphatase type 6; 3.1.3.106; Acid phosphatase 6, lysophosphatidic; Acid phosphatase-like protein 1; PACPL1", "protein_names_refseq": "acid phosphatase-like protein 1; lysophosphatidic acid phosphatase type 6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51205); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12010880;12063250;12161451;12359733;12522102;12963729;12975309;14573790;15280042;15340161;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;18238778;18718904;19336658;19666841;20705608;20877624;21173190;22777291;22922100;23176821;23176823;23807634;24722188;24966474;26711011;2925608;30914657;32157095;32387766;32488085;32938616;32983136;33968037;34078123;34087483;34509645;3458202;35051231;35580925;36010968;36456931;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "Human seminal plasma contains this enzyme which converts lysophospholipids to lysophosphatidic acid., [RefSeq, PubMed]; Hydrolyzes lysophosphatidic acid (LPA) containing a medium length fatty acid chain to the corresponding monoacylglycerol. Has highest activity with lysophosphatidic acid containing myristate (C14:0), monounsaturated oleate (C18:1) or palmitate (C16:0), and lower activity with C18:0 and C6:0 lysophosphatidic acid., [UniProtKB, PubMed, PubMed]; Mutant p53 regulates LPA signaling through lysophosphatidic acid phosphatase type 6. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Structures and biochemical studies of human lysophosphatidic acid phosphatase type 6, [RefSeq, PubMed]; The expression characteristics and clinical significance of ACP6, a potential target of nitidine chloride, in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 13, "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": "Q59G61;Q5T490;Q6IAQ3;Q7LG81;Q9UIG6;X5D289", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "3.1.3.106", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.106", "type": "external" }, { "id": "3.6.1.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.75", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.3.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.10", "type": "external" }, { "id": "3.1.3.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.76", "type": "external" } ], "go_molecular_function": "GO:0052642 lysophosphatidic acid phosphatase activity;GO:0003993 acid phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:2001311 lysobisphosphatidic acid metabolic process;GO:0006654 phosphatidic acid biosynthetic process;GO:0006644 phospholipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9NPH0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08648-1", "uniprot_id": [ { "id": "SG11B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08648", "type": "external" } ], "mass": 11431.0, "length": 103, "protein_name": "Sperm-associated antigen 11B", "gene_name": "SPAG11A; SPAG11B", "organism": "Human", "refseq_name": "sperm-associated antigen 11B isoform G preproprotein", "refseq_ac": [ { "id": "NP_478107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_478107", "type": "external" } ], "gene_names_uniprotkb": "SPAG11A; SPAG11B; EP2; HE2; SPAG11A; SPAG11B", "gene_names_refseq": "EDDM2B; EP2C; EP2D; EP2; HE2C; HE2; SPAG11B; SPAG11", "protein_names_uniprotkb": "Sperm-associated antigen 11B; He2; Human epididymis-specific protein 2; Protein EP2; Sperm antigen HE2", "protein_names_refseq": "Protein EP2; epididymal protein 2B; human epididymis-specific protein 2; sperm antigen HE2; sperm-associated antigen 11B isoform G preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10407); (hsa:653423)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "10698202;11237011;11259252;15229135;16411022;19535787;21933954;25573789;29557506;39894887;8167223", "class_list": "", "function": "Combination of two proteins, SPAG11B and TEX101, can be used for differential diagnosis of azoospermia, [RefSeq, PubMed]; EP2 expression is more widespread in male reproductive tract than realized previously. Activity of every EP2 variant tested is antibacterial. Further investigation may reveal additional roles for EP2 peptides in primate male reproductive tract., [RefSeq, PubMed]; Has antimicrobial activity against E.coli (By similarity). Plays a role in the defense response in the male reproductive tract, contributing to sperm maturation, storage and protection (By similarity)., [UniProtKB, UniProtKB]; Has antimicrobial activity against E.coli. Plays a role in the defense response in the male reproductive tract, contributing to sperm maturation, storage and protection., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Isoform C of SPAG11B encodes a peptide with antimicrobial activity against E. coli., [RefSeq, PubMed]; SPAG11B/D is both a substrate and a potent inhibitor of TPSAB1 activity., [RefSeq, PubMed]; This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they are thought to be involved in sperm maturation. Some of the isoforms contain regions of similarity to beta-defensins, a family of antimicrobial peptides. The gene is located on chromosome 8p23 near the defensin gene cluster. Alternative splicing of this gene results in seven transcript variants encoding different isoforms. Two different N-terminal and five different C-terminal protein sequences are encoded by the splice variants. Two additional variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; We report the three dimensional structure of the human SPAG11B proteins and their C-terminal peptides. web-based hydropathy, amphipathicity, and topology (WHAT) analyses and grand average of hydropathy, [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": 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": "E9PFH0;Q546A0;Q6ZYB2;Q9H4P8;Q9H4P9;Q9H4Q0;Q9H4Q1;Q9H4Q2;Q9NRT3;Q9NRV4;Q9NRV5;Q9NRV6;Q9NRV7;Q9NRV8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0007283 spermatogenesis;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0042742 defense response to bacterium;GO:0051838 cytolysis by host of symbiont cells", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q08648-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24666-1", "uniprot_id": [ { "id": "PPAC_HUMAN", "url": "https://www.uniprot.org/uniprot/P24666", "type": "external" } ], "mass": 18042.0, "length": 158, "protein_name": "Low molecular weight phosphotyrosine protein phosphatase", "gene_name": "ACP1", "organism": "Human", "refseq_name": "low molecular weight phosphotyrosine protein phosphatase isoform c", "refseq_ac": [ { "id": "NP_004291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004291", "type": "external" } ], "gene_names_uniprotkb": "ACP1", "gene_names_refseq": "ACP1; HAAP; LMW-PTP; LMWPTP", "protein_names_uniprotkb": "Low molecular weight phosphotyrosine protein phosphatase; 3.1.3.2; 3.1.3.48; Adipocyte acid phosphatase; LMW-PTPase; LMW-PTP; Low molecular weight cytosolic acid phosphatase; Red cell acid phosphatase 1", "protein_names_refseq": "LMW-PTPase; acid phosphatase 1, soluble; acid phosphatase of erythrocyte; adipocyte acid phosphatase; cytoplasmic phosphotyrosyl protein phosphatase; low molecular weight cytosolic acid phosphatase; low molecular weight phosphotyrosine protein phosphatase isoform c; low molecular weight phosphotyrosine protein phosphatase; protein tyrosine phosphatase; red cell acid phosphatase 1; testicular secretory protein Li 37", "tax_id": 9606, "disease": "attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); conduct disorder (Disease Ontology:DOID:12995); coronary artery disease (Disease Ontology:DOID:3393); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:52)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10336608;10452533;11237011;11971983;12167657;1304913;1587862;15951569;1627603;16344560;16890200;17016520;1939112;20068231;25576301;26768311;26992070;28063628;29242379;29393594;29632046;30410026;31844290;32016696;32157095;32229687;32350084;32938616;32983136;33052434;33214551;33298915;33981976;34019948;34561969;34610471;34725712;35251023;38665916;8364553;8586411;9038134;9499402;9705307", "class_list": "", "function": "Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates with differences in substrate specificity between isoform 1 and isoform 2., [UniProtKB, PubMed, PubMed]; Does not possess phosphatase activity., [UniProtKB, PubMed]; LMWPTP modulates the antioxidant response and autophagy process in human chronic myeloid leukemia cells., [RefSeq, PubMed]; Low molecular weight protein tyrosine phosphatase as signaling hub of cancer hallmarks. Review article, [RefSeq, PubMed]; Platelet-dependent signaling and Low Molecular Weight Protein Tyrosine Phosphatase expression promote aggressive phenotypic changes in gastrointestinal cancer cells., [RefSeq, PubMed]; The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]., [RefSeq]; Vemurafenib downmodulates aggressiveness mediators of colorectal cancer (CRC): Low Molecular Weight Protein Tyrosine Phosphatase (LMWPTP), Protein Tyrosine Phosphatase 1B (PTP1B) and Transforming Growth Factor beta (TGFbeta)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 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": "A8K1L9;B5MCC7;P24667;Q16035;Q16036;Q16725;Q3KQX8;Q53RU0", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0003993 acid phosphatase activity;GO:0004726 non-membrane spanning protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0042383 sarcolemma", "go_biological_process": "GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P24666-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N06-1", "uniprot_id": [ { "id": "SPT33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N06", "type": "external" } ], "mass": 15461.0, "length": 139, "protein_name": "Spermatogenesis-associated protein 33", "gene_name": "SPATA33", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 33 isoform a", "refseq_ac": [ { "id": "NP_001258836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258836", "type": "external" } ], "gene_names_uniprotkb": "SPATA33; C16orf55", "gene_names_refseq": "C16orf55; SPATA33", "protein_names_uniprotkb": "Spermatogenesis-associated protein 33", "protein_names_refseq": "spermatogenesis-associated protein 33 isoform a; spermatogenesis-associated protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:124045)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;11237011;28657654;30098056;38253038;39894887;40596516", "class_list": "", "function": "Plays an important role in sperm motility and male fertility (By similarity). Required for sperm midpiece flexibility and for the localization of sperm calcineurin to the mitochondria (By similarity). Promotes mitophagy as well as acts as an autophagy mediator in male germline cells (By similarity). Links damaged mitochondria to autophagosomes via its binding to the outer mitochondrial membrane protein VDAC2, as well as to key autophagy machinery component ATG16L1 (By similarity)., [UniProtKB, UniProtKB]; The current study illustrated that alterations in SPATA33 gene, at least those found in this study, may not impair spermatogenesis in patients with nonobstructive azoospermia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8WFL2;B4DZN8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097226 sperm mitochondrial sheath;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0000423 mitophagy", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96N06-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H237-1", "uniprot_id": [ { "id": "PORCN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H237", "type": "external" } ], "mass": 52318.0, "length": 461, "protein_name": "Protein-serine O-palmitoleoyltransferase porcupine", "gene_name": "PORCN", "organism": "Human", "refseq_name": "protein-serine O-palmitoleoyltransferase porcupine isoform F", "refseq_ac": [ { "id": "NP_001269096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269096", "type": "external" } ], "gene_names_uniprotkb": "PORCN; MG61; PORC; PPN", "gene_names_refseq": "DHOF; FODH; MG61; PORCN; PORC; PPN", "protein_names_uniprotkb": "Protein-serine O-palmitoleoyltransferase porcupine; 2.3.1.250; Protein MG61", "protein_names_refseq": "porcupine homolog; probable protein-cysteine N-palmitoyltransferase porcupine; protein-serine O-palmitoleoyltransferase porcupine isoform F; protein-serine O-palmitoleoyltransferase porcupine", "tax_id": 9606, "disease": "focal dermal hypoplasia (Disease Ontology:DOID:2120)", "pathway": " (hsa:64840); (R-HSA-3238698); (R-HSA-5340573)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10694878;11031247;11231171;11237011;11433298;12034504;12717451;16364628;16645052;16678095;16678096;17108000;17117926;17141155;17397399;17546030;17546031;18160347;18160348;18193032;18193037;18325042;18430724;19277062;19309688;19442504;19566487;19586929;19619488;19837038;19863546;20477987;20533886;20826466;21472892;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;23481700;24277854;24292069;25418920;25892735;28832583;29242379;29557506;29769354;30524438;31685621;31844290;32502341;32938616;33141586;33968037;34171305;34211107;35831507;36010968;36215026;36581221;36880456;37812478;8167409;8262072;8985181", "class_list": "", "function": "A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review. Review article, [RefSeq, PubMed]; Inhibition of PORCN Blocks Wnt Signaling to Attenuate Progression of Oral Carcinogenesis., [RefSeq, PubMed]; Mechanisms and inhibition of Porcupine-mediated Wnt acylation., [RefSeq, PubMed]; Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1(9Z)), to Wnt proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Sequence deletions and point mutations cause focal dermal hypoplasia., [RefSeq, PubMed]; Suppression of Wnt/beta-Catenin Signaling Is Associated with Downregulation of Wnt1, PORCN, and Rspo2 in Alzheimer's Disease., [RefSeq, PubMed]; This gene belongs to the evolutionarily conserved porcupine (Porc) gene family. Genes of the porcupine family encode endoplasmic reticulum proteins with multiple transmembrane domains. Porcupine proteins are involved in the processing of Wnt (wingless and int homologue) proteins. Disruption of this gene is associated with focal dermal hypoplasia, and the encoded protein has been implicated in cancer. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [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": 2, "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": "B2RBN8;B7ZAR3;Q14829;Q9H234;Q9H235;Q9H236;Q9UJU7", "ec_number_list": [ { "id": "2.3.1.250", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.250", "type": "external" } ], "go_molecular_function": "GO:0017147 Wnt-protein binding;GO:1990698 palmitoleoyltransferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032281 AMPA glutamate receptor complex", "go_biological_process": "GO:0045234 protein palmitoleylation;GO:0006497 protein lipidation;GO:0016055 Wnt signaling pathway;GO:0030258 lipid modification;GO:0061355 Wnt protein secretion", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9H237-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQI6-1", "uniprot_id": [ { "id": "SLF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQI6", "type": "external" } ], "mass": 121050.0, "length": 1058, "protein_name": "SMC5-SMC6 complex localization factor protein 1", "gene_name": "SLF1", "organism": "Human", "refseq_name": "SMC5-SMC6 complex localization factor protein 1", "refseq_ac": [ { "id": "NP_115666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115666", "type": "external" } ], "gene_names_uniprotkb": "SLF1; ANKRD32; BRCTD1", "gene_names_refseq": "ANKRD32; BRCTD1; BRCTx; SLF1; hNSE5", "protein_names_uniprotkb": "SMC5-SMC6 complex localization factor protein 1; Ankyrin repeat domain-containing protein 32; BRCT domain-containing protein 1; Smc5/6 localization factor 1", "protein_names_refseq": "BRCT domain containing 1; BRCT domain-containing protein 1; SMC5-SMC6 complex localization factor 1; SMC5-SMC6 complex localization factor protein 1; ankyrin repeat domain 32; ankyrin repeat domain-containing protein 32; smc5/6 localization factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84250)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11230166;11237011;15632077;18220336;18691976;19691289;25418920;25892735;25931565;26768311;26929215;26992070;28228285;28832583;28834231;28904123;29242379;29393594;29632046;29789417;30379171;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;33392160;33912179;33936100;33968037;33981976;34171305;34932366;35051231;36010968;36215666;36241641;36373674;38253038", "class_list": "", "function": "Plays a role in the DNA damage response (DDR) pathway by regulating postreplication repair of UV-damaged DNA and genomic stability maintenance (PubMed:25931565). The SLF1-SLF2 complex acts to link RAD18 with the SMC5-SMC6 complex at replication-coupled interstrand cross-links (ICL) and DNA double-strand breaks (DSBs) sites on chromatin during DNA repair in response to stalled replication forks (PubMed:25931565). Promotes the recruitment of SLF2 and the SMC5-SMC6 complex to DNA lesions (PubMed:25931565, PubMed:36373674)., [UniProtKB, PubMed, PubMed]; Results describe the cloning, characterization, and targeted mutagenesis of Brctx, a novel gene with a BRCT motif [Brctx]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DMG4;Q3B7K4;Q6NSA5;Q6PHW9;Q9Y402", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0035861 site of double-strand break", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0032204 regulation of telomere maintenance;GO:0016925 protein sumoylation;GO:0006974 DNA damage response;GO:0031334 positive regulation of protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9BQI6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD22-1", "uniprot_id": [ { "id": "SFXN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD22", "type": "external" } ], "mass": 37124.0, "length": 340, "protein_name": "Sideroflexin-5", "gene_name": "SFXN5", "organism": "Human", "refseq_name": "sideroflexin-5 isoform 2", "refseq_ac": [ { "id": "NP_653180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653180", "type": "external" } ], "gene_names_uniprotkb": "SFXN5", "gene_names_refseq": "BBG-TCC; SFXN5; SLC56A5", "protein_names_uniprotkb": "Sideroflexin-5", "protein_names_refseq": "sideroflexin-5 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:94097)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12039050;24715725;25576301;27846572;29437277;29557506;30442778;31154438;31844290;31848261;32157095;33298915;33936100;35051231", "class_list": "", "function": "Mitochondrial amino-acid transporter (By similarity). Transports citrate (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (By similarity) (PubMed:30442778). In brown adipose tissue, plays a role in the regulation of UCP1-dependent thermogenesis probably by supporting mitochondrial glycerol-3-phosphate utilization (By similarity)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K116;Q494Y3;Q53T29", "ec_number_list": [], "go_molecular_function": "GO:0015137 citrate transmembrane transporter activity;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006865 amino acid transport;GO:0015746 citrate transport;GO:0120162 positive regulation of cold-induced thermogenesis;GO:1990542 mitochondrial transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8TD22-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WR7-1", "uniprot_id": [ { "id": "PRSR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WR7", "type": "external" } ], "mass": 45802.0, "length": 435, "protein_name": "Proline and serine-rich protein 2", "gene_name": "PROSER2", "organism": "Human", "refseq_name": "proline and serine-rich protein 2", "refseq_ac": [ { "id": "NP_694988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694988", "type": "external" } ], "gene_names_uniprotkb": "PROSER2; C10orf47", "gene_names_refseq": "C10orf47; PROSER2", "protein_names_uniprotkb": "Proline and serine-rich protein 2", "protein_names_refseq": "proline and serine-rich protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:254427)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;17322306;17924679;18088087;18452278;18669648;18767875;19007248;19651622;19664994;19690332;20068231;23186163;23481700;24129315;24275569;25548167;25576301;25645385;26154972;27862975;28510447;28832583;29242379;29557506;29632711;30429286;30779550;31154438;31222486;31848261;32157095;32161166;32897882;32983136;33968037;33981976;35051231;35580925;36241641;36284347;37938771;38293943", "class_list": "", "function": "New Function Annotation of PROSER2 in Pancreatic Ductal Adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DRR8;Q5W0J9;Q5W0K0;Q5W0K1;Q5W0K2;Q6PJC8;Q8N317", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q86WR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y274-1", "uniprot_id": [ { "id": "SIA10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y274", "type": "external" } ], "mass": 38214.0, "length": 331, "protein_name": "Type 2 lactosamine alpha-2,3-sialyltransferase", "gene_name": "ST3GAL6", "organism": "Human", "refseq_name": "type 2 lactosamine alpha-2,3-sialyltransferase isoform 3", "refseq_ac": [ { "id": "NP_001258074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258074", "type": "external" } ], "gene_names_uniprotkb": "ST3GAL6; SIAT10", "gene_names_refseq": "SIAT10; ST3GAL6; ST3GALVI", "protein_names_uniprotkb": "Type 2 lactosamine alpha-2,3-sialyltransferase; 2.4.3.6; CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI; ST3Gal VI; ST3GalVI; Sialyltransferase 10", "protein_names_refseq": "CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI; alpha2,3-sialyltransferase ST3Gal VI; sialyltransferase 10 (alpha-2,3-sialyltransferase VI); type 2 lactosamine alpha-2,3-sialyltransferase isoform 3; type 2 lactosamine alpha-2,3-sialyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:10402); (R-HSA-1912420); (R-HSA-2022854); (R-HSA-4085001); (R-HSA-9037629)", "pathway_count": 5, "publication_count": 136, "publication_id_list": "10.1101/2023.09.13.557529;10075724;10191093;10206952;10212226;10330343;10334995;10366590;10405317;10431835;10459009;10491328;10504389;10536037;10545110;10581036;10669757;10742600;10749855;10861246;10935626;10935637;10947946;11030741;11042166;11042394;11062056;11135303;11237011;11279095;11283017;11528398;11530204;11588157;11602804;11707585;11751519;11821425;11901181;11916006;12049766;12107078;12177386;12218059;12222957;12235148;12473780;12603328;12668675;12678917;12743242;1295745;14688233;14962670;15136692;15158662;1520296;15213228;15486459;15501818;15560372;15576474;15620693;16147865;16237198;1702034;17021253;17123352;1714903;1716630;1740457;1756715;1764995;18485915;18632803;19159218;19701457;1977660;19797320;20170518;20197277;21081508;21097675;22692205;24190977;24953560;25061176;25645385;25880248;26154972;26692484;28904123;29741879;30315122;3136930;31844290;31914669;32157095;32357974;33298915;33649796;33968037;34357683;35051231;35318648;37074911;38034954;7252518;7559389;7876235;7918097;8207002;8240337;8288606;8293978;8333853;8591035;8611500;8631981;8681805;8920913;8985184;9010752;9187150;9199191;9207795;9219535;9244302;9405439;9417100;9582303;9597550;9653148;9727485;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "A cross-restoration of each of the three genes in ST3GAL6 KO cells showed that overexpression of ST3GAL6 sufficiently rescued the total alpha2,3-sialylation levels, cell morphology, and alpha2,3-sialylation of EGFR, whereas the alpha2,3-sialylation levels of beta1 were greatly enhanced by an overexpression of ST3GAL4, [RefSeq, PubMed]; Epigenetic changes in a group of glycosyltransferases including B4GALNT2 and ST3GAL6 represent a malignant phenotype of gastric cancer caused by silencing of the activity of these enzymes, [RefSeq, PubMed]; LncRNA ST3GAL6AS1 promotes invasion by inhibiting hnRNPA2B1mediated ST3GAL6 expression in multiple myeloma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5'-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]., [RefSeq]; The sialyltransferase ST3GAL6 influences homing and survival in multiple myeloma., [RefSeq, PubMed]; Transfers the sialyl residue from CMP-N-acetyl-beta-neuraminate to the terminal galactose residue on sugar chains of glycoproteins and glycolipids (PubMed:10206952, PubMed:26692484). Its alpha-2,3-sialyltransferase activity is specific toward type II glycan chains (Galbeta1-4GlcNAc) on glycoproteins and glycolipids such as neolactosides nLc4Cer and nLc6Cer, whose sialyl-products serve as precursors for the Lewis X antigen (PubMed:10206952, PubMed:26692484). Critically involved in the synthesis of functional selectin ligands needed for neutrophil recruitment during inflammation and lymphocyte homing to the lymph nodes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 363, "reported_interactions": 0, "missing_score": 8712, "biomarker_type": "", "glycan_count": 16, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RCH2;B3KMI1;D3DN39;F8W6U0", "ec_number_list": [ { "id": "2.4.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.2", "type": "external" }, { "id": "2.4.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.4", "type": "external" }, { "id": "2.4.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.6", "type": "external" }, { "id": "2.4.3.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.9", "type": "external" } ], "go_molecular_function": "GO:0008373 sialyltransferase activity;GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity;GO:0008118 N-acetyllactosaminide alpha-2,3-sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0009247 glycolipid biosynthetic process;GO:0009312 oligosaccharide biosynthetic process;GO:0018146 keratan sulfate proteoglycan biosynthetic process;GO:0071354 cellular response to interleukin-6", "synthesized_glycan_count": 2417, "hit_score": 15.7, "record_id": "Q9Y274-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JXA9-1", "uniprot_id": [ { "id": "SIRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JXA9", "type": "external" } ], "mass": 36968.0, "length": 342, "protein_name": "Signal-regulatory protein beta-2", "gene_name": "SIRPB2", "organism": "Human", "refseq_name": "signal-regulatory protein beta-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001116434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116434", "type": "external" } ], "gene_names_uniprotkb": "SIRPB2; PTPN1L; PTPNS1L3", "gene_names_refseq": "PTPN1L; PTPNS1L3; SIRPB2; dJ776F14.2", "protein_names_uniprotkb": "Signal-regulatory protein beta-2; Protein tyrosine phosphatase non-receptor type substrate 1-like 3; Protein tyrosine phosphatase non-receptor type substrate protein; SIRP-beta-2", "protein_names_refseq": "SIRP-beta-2; protein tyrosine phosphatase non-receptor type substrate protein; protein tyrosine phosphatase, non-receptor type substrate 1-like 3; signal-regulatory protein beta-2 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:284759)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17178844;24366607;31905248;32938616;35051231", "class_list": "", "function": "Relationship between ATM kinase and extracellular signal-regulated kinase 1/2 (ERK1/2), a key mitogenic stimulator., [RefSeq, PubMed]; Results suggest that SIRPB1 is a potential oncogene capable of activating Akt signaling to stimulate prostate cancer proliferation and could be a biomarker for patients at risk of developing aggressive prostate cancer., [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": "B4DLM9;E9PCW6;Q6TCH9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5JXA9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92733-1", "uniprot_id": [ { "id": "PRCC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92733", "type": "external" } ], "mass": 52418.0, "length": 491, "protein_name": "Proline-rich protein PRCC", "gene_name": "PRCC", "organism": "Human", "refseq_name": "proline-rich protein PRCC", "refseq_ac": [ { "id": "NP_005964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005964", "type": "external" } ], "gene_names_uniprotkb": "PRCC; TPRC", "gene_names_refseq": "PRCC; RCCP1; TPRC", "protein_names_uniprotkb": "Proline-rich protein PRCC; Papillary renal cell carcinoma translocation-associated gene protein", "protein_names_refseq": "PRCC, proline rich mitotic checkpoint control factor; papillary renal cell carcinoma (translocation-associated); papillary renal cell carcinoma translocation-associated gene protein; proline-rich protein PRCC", "tax_id": 9606, "disease": "papillary renal cell carcinoma (Disease Ontology:DOID:4465)", "pathway": " (hsa:5546); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 163, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11717438;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16809785;17081983;17095540;17287340;17332742;17606899;18077418;18322460;18452278;18593880;18669648;18707149;18802091;19103666;19165350;19413330;19415658;19536130;19651622;20058876;20068231;20166139;20423332;20980672;21406692;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;26092250;26154972;26385511;26420826;26728094;26969736;26992070;27108190;27377154;27459055;27683217;27846572;27920218;28062851;28076346;28411811;28502770;28781166;28832583;28834231;28904123;28949976;29301961;29360106;29361316;29393594;29508533;29557506;29632046;2963332;29786170;29902443;30315277;30379171;30429286;30599162;30705154;30728453;30765414;30975767;31217245;31222486;31373491;31409651;31492838;31844290;32157095;32179686;32329775;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33019842;33141586;33177556;33243851;33298915;33446560;33592498;33691108;33717175;33912179;33968037;34019948;34301950;34822310;34846842;35051231;35132862;35215846;35385551;35513511;36241641;3757028;37938771;39302247;39534244;40307207;40596516;8566756;8608946;8872474;8986805;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "May regulate cell cycle progression through interaction with MAD2L2., [UniProtKB, PubMed]; PRCC-TFE3 fusion-mediated PRKN/parkin-dependent mitophagy promotes cell survival and proliferation in PRCC-TFE3 translocation renal cell carcinoma., [RefSeq, PubMed]; Results reveal that PRCC-TFE3 dual-fusion FISH probe is an efficient and concise technique for diagnosing PRCC-TFE3 RCC in paraffin-embedded tissue Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[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": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8K1F7;O00665;O00724;Q5SZ06", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 17.3, "record_id": "Q92733-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7L1-1", "uniprot_id": [ { "id": "SLN11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7L1", "type": "external" } ], "mass": 102836.0, "length": 901, "protein_name": "Schlafen family member 11", "gene_name": "SLFN11", "organism": "Human", "refseq_name": "schlafen family member 11", "refseq_ac": [ { "id": "NP_001098057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098057", "type": "external" } ], "gene_names_uniprotkb": "SLFN11", "gene_names_refseq": "SLFN11; SLFN8/9", "protein_names_uniprotkb": "Schlafen family member 11; 3.1.-.-", "protein_names_refseq": "schlafen family member 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:91607)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;20956525;22927417;23000900;23481700;24714562;26154972;26625211;26658330;26811146;26992070;27440269;27846572;27862975;27920218;28196596;28212573;28832583;28834231;28904123;29242379;29395061;29493099;29508533;29557506;29786170;30315122;30374083;30410026;30429286;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;34171305;34509645;34561969;35051231;35105802;35580925;36010968;36115853;36284347;36382088;37833372;38206539;38875319", "class_list": "", "function": "Inhibitor of DNA replication that promotes cell death in response to DNA damage (PubMed:22927417, PubMed:26658330, PubMed:29395061). Acts as a guardian of the genome by killing cells with defective replication (PubMed:29395061). Persistently blocks stressed replication forks by opening chromatin across replication initiation sites at stressed replication forks, possibly leading to unwind DNA ahead of the MCM helicase and block fork progression, ultimately leading to cell death (PubMed:29395061). Upon DNA damage, inhibits translation of ATR or ATM based on distinct codon usage without disrupting early DNA damage response signaling (PubMed:30374083). Antiviral restriction factor with manganese-dependent type II tRNA endoribonuclease (PubMed:36115853). A single tRNA molecule is bound and cleaved by the SLFN11 dimer (PubMed:36115853). Specifically abrogates the production of retroviruses such as human immunodeficiency virus 1 (HIV-1) by acting as a specific inhibitor of the synthesis of retroviruses encoded proteins in a codon-usage-dependent manner (PubMed:23000900). Impairs the replication of human cytomegalovirus (HCMV) and some Flaviviruses (PubMed:35105802, PubMed:36115853). Exploits the unique viral codon bias towards A/T nucleotides (PubMed:23000900). Also acts as an interferon (IFN)-induced antiviral protein which acts as an inhibitor of retrovirus protein synthesis (PubMed:23000900)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mechanistic understanding of human SLFN11. Publication Status: Online-Only, [RefSeq, PubMed]; Mouse Slfn8 and Slfn9 genes complement human cells lacking SLFN11 during the replication stress response. Publication Status: Online-Only, [RefSeq, PubMed]; SLFN11 expression is causally associated with the activity of DNA-damaging agents in cancer cells, and has a broad expression range in colon and ovarian adenocarcinomas., [RefSeq, PubMed]; SLFN11 negatively regulates non-canonical NFkB signaling to promote glioblastoma progression., [RefSeq, PubMed]; SLFN11 promotes clear cell renal cell carcinoma progression via the PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SLFN11 selectively inhibits viral protein synthesis in HIV-infected cells by means of codon-bias discrimination, [RefSeq, PubMed]; Schlafen 11 triggers innate immune responses through its ribonuclease activity upon detection of single-stranded DNA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "E1P643;Q8N3S8;Q8N762;Q8TEE0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0000049 tRNA binding;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0090734 site of DNA damage", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0051607 defense response to virus;GO:0006974 DNA damage response;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle;GO:0043111 replication fork arrest", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q7Z7L1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BP3-1", "uniprot_id": [ { "id": "PPWD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BP3", "type": "external" } ], "mass": 73575.0, "length": 646, "protein_name": "Peptidylprolyl isomerase domain and WD repeat-containing protein 1", "gene_name": "PPWD1", "organism": "Human", "refseq_name": "peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001265855", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265855", "type": "external" } ], "gene_names_uniprotkb": "PPWD1; KIAA0073", "gene_names_refseq": "PPWD1", "protein_names_uniprotkb": "Peptidylprolyl isomerase domain and WD repeat-containing protein 1; 5.2.1.8; Spliceosome-associated cyclophilin", "protein_names_refseq": "epididymis secretory sperm binding protein; peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 2; peptidylprolyl isomerase domain and WD repeat-containing protein 1; spliceosome-associated cyclophilin", "tax_id": 9606, "disease": "", "pathway": " (hsa:23398); (R-HSA-72163)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18397323;18593880;19103666;19165350;19536130;20068231;20423332;20676357;20980672;21536652;2176635;22110043;22223895;22365833;22959432;22961380;23222130;23236153;23345524;23481700;24196718;24304693;24448447;24715725;24737827;24914973;25555158;2558966;25645385;25880248;26385511;26420826;26811146;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28076346;28228285;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29493099;29557506;29632711;2963332;30315122;30315277;30484775;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32329775;32357974;32387766;32494006;32897882;32936290;32938616;32983136;33243851;33298915;33446560;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34301950;34561969;34725712;34822310;34932366;35051231;35385551;35561310;35580925;36241641;36284347;3757028;37938771;40136647;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Long non-coding RNA RP11-284F21.9 functions as a ceRNA regulating PPWD1 by competitively binding to miR-769-3p in cervical carcinoma., [RefSeq, PubMed]; PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). May be involved in pre-mRNA splicing (PubMed:11991638)., [UniProtKB, PubMed, PubMed]; The crystal structure of human PPWD1 was studied., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DWR9;Q15002;Q7KZ89", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" } ], "go_molecular_function": "GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0071013 catalytic step 2 spliceosome;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q96BP3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0X2-1", "uniprot_id": [ { "id": "SPG16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0X2", "type": "external" } ], "mass": 70818.0, "length": 631, "protein_name": "Sperm-associated antigen 16 protein", "gene_name": "SPAG16", "organism": "Human", "refseq_name": "sperm-associated antigen 16 protein isoform 2", "refseq_ac": [ { "id": "NP_001020607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020607", "type": "external" } ], "gene_names_uniprotkb": "SPAG16; PF20", "gene_names_refseq": "PF20; SPAG16; WDR29", "protein_names_uniprotkb": "Sperm-associated antigen 16 protein; Pf20 protein homolog", "protein_names_refseq": "WD repeat domain 29; pf20 protein homolog; sperm-associated WD repeat protein; sperm-associated antigen 16 protein isoform 2; sperm-associated antigen 16 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79582)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;11867345;12391165;17699735;20463177;22963137;23481700;24715725;25576301;26154972;26375851;27846572;27920218;28137312;29242379;29557506;29786170;30379171;31154438;31530632;31844290;31998317;32157095;32387766;32488085;32938616;32983136;33141586;33298915;33592498;33691108;33968037;34171305;34211107;34445527;34932366;35051231;36010968;36215666;36434627", "class_list": "", "function": "Analysis of SPAG16 regions encoding conserved WD repeats revealed no evidence for association of mutations or genetic variation with sperm motility in infertile males. Publication Status: Online-Only, [RefSeq, PubMed]; Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]., [RefSeq]; Data describe the cloning of human and mouse Pf20 proteins that interact with Spag6 protein., [RefSeq, PubMed]; Genetic variant in SPAG16 is associated with the susceptibility of ACPA-positive rheumatoid arthritis possibly via regulation of MMP-3. Publication Status: Online-Only, [RefSeq, PubMed]; Heterozygous mutation that affects both SPAG16L and SPAG16S does not cause male infertility in man, but is associated with reduced stability of the interacting proteins of the central apparatus., [RefSeq, PubMed]; Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia. Publication Status: Online-Only, [RefSeq, PubMed]; Necessary for sperm flagellar function. Plays a role in motile ciliogenesis. May help to recruit STK36 to the cilium or apical surface of the cell to initiate subsequent steps of construction of the central pair apparatus of motile cilia (By similarity)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Short-SOX5 regulates transcription of human SPAG16L gene via directly binding to the promoter of SPAG16L. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q498B7;Q658W1;Q68DB3;Q6I9Z6;Q8N9C7;Q9H601", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:1990716 axonemal central apparatus;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0060271 cilium assembly;GO:0035082 axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8N0X2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95707-1", "uniprot_id": [ { "id": "RPP29_HUMAN", "url": "https://www.uniprot.org/uniprot/O95707", "type": "external" } ], "mass": 25425.0, "length": 220, "protein_name": "Ribonuclease P protein subunit p29", "gene_name": "POP4", "organism": "Human", "refseq_name": "ribonuclease P protein subunit p29", "refseq_ac": [ { "id": "NP_006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006618", "type": "external" } ], "gene_names_uniprotkb": "POP4; RPP29", "gene_names_refseq": "POP4; RPP29", "protein_names_uniprotkb": "Ribonuclease P protein subunit p29; hPOP4", "protein_names_refseq": "POP4 homolog, ribonuclease P/MRP subunit; hPOP4; ribonuclease P protein subunit p29", "tax_id": 9606, "disease": "", "pathway": " (hsa:10775); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10024167;10352175;10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15096576;15109492;15317868;16361254;16710424;16723659;17204286;17224653;17525332;17924679;18077418;18226598;18809514;18984158;21311021;21450806;21559454;21593607;22944664;23186163;23481700;2470644;24870230;25418920;25576301;25640237;25849199;26811146;26929215;26992070;27846572;27920218;28063628;28228285;28432356;28510447;28514659;28649982;28832583;28904123;29242379;29331515;29393594;29508533;29557506;29632046;29786170;29921582;30315122;30429286;30454648;30779550;30833945;31530632;31844290;31848261;32157095;32357974;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34561969;34932366;35561310;35580925;36580660;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Rpp29 regulates H3.3-mediated epigenetic mechanisms by processing a transcribed signal that recruits H3.3 to its incorporation sites, [RefSeq, PubMed]; This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5XKL7;Q6FHW9;Q9UQQ3", "ec_number_list": [], "go_molecular_function": "GO:0033204 ribonuclease P RNA binding", "go_cellular_component": "GO:0030681 multimeric ribonuclease P complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000172 ribonuclease MRP complex", "go_biological_process": "GO:0006396 RNA processing;GO:0006364 rRNA processing;GO:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "O95707-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38935-1", "uniprot_id": [ { "id": "SMBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P38935", "type": "external" } ], "mass": 109149.0, "length": 993, "protein_name": "DNA-binding protein SMUBP-2", "gene_name": "IGHMBP2", "organism": "Human", "refseq_name": "DNA-binding protein SMUBP-2", "refseq_ac": [ { "id": "NP_002171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002171", "type": "external" } ], "gene_names_uniprotkb": "IGHMBP2; SMBP2; SMUBP2", "gene_names_refseq": "CATF1; CMT2S; HCSA; HMN6; HMNR1; IGHMBP2; SMARD1; SMUBP2; ZFAND7", "protein_names_uniprotkb": "DNA-binding protein SMUBP-2; 5.6.2.3; 5.6.2.5; ATP-dependent helicase IGHMBP2; DNA and RNA 5'-3' helicase IGHMBP2; GF-1; Glial factor 1; Immunoglobulin mu-binding protein 2", "protein_names_refseq": "ATP-dependent helicase IGHMBP2; DNA-binding protein SMUBP-2; GF-1; cardiac transcription factor 1; glial factor 1; immunoglobulin mu binding protein 2; zinc finger, AN1-type domain 7", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease axonal type 2S (Disease Ontology:DOID:0110171); autosomal recessive distal hereditary motor neuronopathy 1 (Disease Ontology:DOID:0111064); autosomal recessive distal hereditary motor neuronopathy (Disease Ontology:DOID:0111197)", "pathway": " (hsa:3508)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10049831;11237011;11528396;12547203;14681881;15108294;15290238;15797190;16752224;1714899;17431882;17525332;18452278;18802676;19158098;19299493;20068231;22223895;22965130;22999958;25439726;25576301;26154972;26992070;27846572;28904123;29493099;29557506;30218034;30379171;30410026;30484775;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34087483;34509645;35051231;35494241;35561310;35580925;35660062;36010968;36077311;36215666;36241641;36284347;36581221;37938771;38368610;38803225;8349627", "class_list": "", "function": "5' to 3' helicase that unwinds RNA and DNA duplexes in an ATP-dependent reaction. Specific to 5'-phosphorylated single-stranded guanine-rich sequences. May play a role in RNA metabolism, ribosome biogenesis or initiation of translation. May play a role in regulation of transcription. Interacts with tRNA-Tyr., [UniProtKB, UniProtKB]; 5' to 3' helicase that unwinds both RNA and DNA duplexes in an ATP-dependent reaction (Probable) (PubMed:19158098, PubMed:30218034). Specific to 5'-phosphorylated single-stranded guanine-rich sequences (PubMed:22999958, PubMed:8349627). May play a role in RNA metabolism, ribosome biogenesis or initiation of translation (PubMed:19158098, PubMed:19299493). May play a role in regulation of transcription (By similarity). Interacts with tRNA-Tyr (PubMed:19299493). Has low processivity (PubMed:30218034)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Clinical and genetic features of Charcot-Marie-Tooth disease patients with IGHMBP2 mutations., [RefSeq, PubMed]; IGHMBP2 deletion suppresses translation and activates the integrated stress response. Publication Status: Online-Only, [RefSeq, PubMed]; RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis., [RefSeq, PubMed]; This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]., [RefSeq]; Validation of the Pathogenic Effect of IGHMBP2 Gene Mutations Based on Yeast S. cerevisiae Model. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 26, "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": "A0PJD2;Q00443;Q14177", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P38935-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6N5-1", "uniprot_id": [ { "id": "SQOR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6N5", "type": "external" } ], "mass": 49961.0, "length": 450, "protein_name": "Sulfide:quinone oxidoreductase, mitochondrial", "gene_name": "SQOR", "organism": "Human", "refseq_name": "sulfide:quinone oxidoreductase, mitochondrial", "refseq_ac": [ { "id": "NP_001258142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258142", "type": "external" } ], "gene_names_uniprotkb": "SQOR; CGI-44; SQRDL", "gene_names_refseq": "CGI-44; PRO1975; SQOR; SQRDL; SQR", "protein_names_uniprotkb": "Sulfide:quinone oxidoreductase, mitochondrial; 1.8.5.8; SQOR; Sulfide dehydrogenase-like; Sulfide quinone oxidoreductase", "protein_names_refseq": "sulfide dehydrogenase like; sulfide quinone reductase-like; sulfide:quinone oxidoreductase, mitochondrial", "tax_id": 9606, "disease": "sulfide quinone oxidoreductase deficiency (MONDO:MONDO:0030982)", "pathway": " (hsa:58472); (R-HSA-1614517)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;10224084;10585886;11237011;12832624;16475804;17459792;18494801;19136963;20068231;22852582;24981631;25225291;27452731;29242379;29493099;29557506;29632711;29715001;29789417;29855663;30379171;30905673;31844290;32160317;32350084;32387766;32938616;32983136;33043033;33298915;33592498;33968037;34087483;34357683;34509645;35051231;35580925;36215666;41018975;4441366;6361026", "class_list": "", "function": "Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone-10, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro) (PubMed:22852582). It is believed the in vivo electron acceptor is glutathione (PubMed:25225291, PubMed:29715001)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Human SQOR contains unique features: an electropositive surface depression implicated as a binding site for sulfane sulfur acceptors and postulated to funnel negatively charged substrates to a hydrophilic H2S-oxidizing active site, which is connected to a hydrophobic internal tunnel that binds coenzyme Q, [RefSeq, PubMed]; Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease., [RefSeq, PubMed]; Sulfide:quinone oxidoreductase catalyzes the first step in hydrogen sulfide metabolism and produces a sulfane sulfur metabolite., [RefSeq, PubMed]; The evidence supported the significant role of SQRDL in the etiology of postmenopausal osteoporosis and suggest that it may be a genetic risk factor for BMD and osteoporosis in Han Chinese postmenopausal women., [RefSeq, PubMed]; The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9UQM8", "ec_number_list": [ { "id": "1.13.11.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.18", "type": "external" }, { "id": "2.8.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.1.1", "type": "external" }, { "id": "1.8.5.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.8", "type": "external" } ], "go_molecular_function": "GO:0070224 sulfide:quinone oxidoreductase activity;GO:0071949 FAD binding;GO:0048038 quinone binding;GO:0106436 glutathione-dependent sulfide quinone oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0070221 sulfide oxidation, using sulfide:quinone oxidoreductase", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9Y6N5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JUX0-1", "uniprot_id": [ { "id": "SPIN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JUX0", "type": "external" } ], "mass": 29207.0, "length": 258, "protein_name": "Spindlin-3", "gene_name": "SPIN3", "organism": "Human", "refseq_name": "spindlin-3", "refseq_ac": [ { "id": "NP_001010862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010862", "type": "external" } ], "gene_names_uniprotkb": "SPIN3", "gene_names_refseq": "SPIN-3; SPIN3; TDRD27; bA445O16.1", "protein_names_uniprotkb": "Spindlin-3; SPIN-3; Spindlin-like protein 3", "protein_names_refseq": "bA445O16.1 (DXF34); spindlin-3; spindlin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:169981)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;19664994;20068231;25880248;29061846;29557506;30379171;30429286;31844290;32938616;35051231", "class_list": "", "function": "Exhibits H3K4me3-binding activity., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RUW3;B7Z8W2;Q8N5D9", "ec_number_list": [], "go_molecular_function": "GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0007276 gamete generation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5JUX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14940-1", "uniprot_id": [ { "id": "SL9A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14940", "type": "external" } ], "mass": 99011.0, "length": 896, "protein_name": "Sodium/hydrogen exchanger 5", "gene_name": "SLC9A5", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_004585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004585", "type": "external" } ], "gene_names_uniprotkb": "SLC9A5; NHE5", "gene_names_refseq": "NHE5; SLC9A5", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 5; NHE-5; Na(+)/H(+) exchanger 5; Solute carrier family 9 member 5", "protein_names_refseq": "NHE-5; Na(+)/H(+) exchanger 5; sodium/hydrogen exchanger 5 isoform 1 precursor; sodium/hydrogen exchanger 5; solute carrier family 9 (sodium/hydrogen exchanger), member 5; solute carrier family 9 member 5; solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5", "tax_id": 9606, "disease": "nephrolithiasis (Disease Ontology:DOID:585); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:6553); (R-HSA-425986)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10444453;10692428;11237011;11279194;11940519;12205089;15522866;15699339;19276089;21296876;21551074;24006492;24936055;2536298;28904123;30410026;31595389;32157095;32938616;33968037;35051231;7631746;7759094;9933641", "class_list": "", "function": "Discrete elements of an elaborate sorting signal in NHE5 contribute to beta-arrestin2 binding and trafficking along the recycling endosomal pathway., [RefSeq, PubMed]; High NHE5 expression is associated with glioma., [RefSeq, PubMed]; Observations demonstrate that NHE5 is localized to the recycling endosomal pathway and is dynamically regulated by phosphatidylinositol 3'-kinase and by the state of F-actin assembly, [RefSeq, PubMed]; Overexpression of NHE5 inhibits spine growth in response to neuronal activity, [RefSeq, PubMed]; Plasma membrane Na(+)/H(+) antiporter. Mediates the electroneutral exchange of intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry, thus regulating intracellular pH homeostasis, in particular in neural tissues (PubMed:10692428, PubMed:19276089, PubMed:24936055, PubMed:9933641). Acts as a negative regulator of dendritic spine growth (PubMed:21551074). Plays a role in postsynaptic remodeling and signaling (PubMed:21551074, PubMed:24006492). Can also contribute to organellar pH regulation, with consequences for receptor tyrosine kinase trafficking (PubMed:24936055)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; These data reveal a unique role for AMPK and NHE5 in regulating the pH homeostasis of hippocampal neurons during metabolic stress., [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": 12, "reported_glycation": 0, "reported_snv": 18, "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": "A5PKY7;Q9Y626", "ec_number_list": [ { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.104", "type": "external" } ], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity;GO:1990763 arrestin family protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0016020 membrane;GO:0045202 synapse;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0035725 sodium ion transmembrane transport;GO:0051453 regulation of intracellular pH;GO:0071805 potassium ion transmembrane transport;GO:0098719 sodium ion import across plasma membrane;GO:0006885 regulation of pH", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q14940-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2U9-1", "uniprot_id": [ { "id": "S66A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2U9", "type": "external" } ], "mass": 30478.0, "length": 271, "protein_name": "Solute carrier family 66 member 2", "gene_name": "SLC66A2", "organism": "Human", "refseq_name": "solute carrier family 66 member 2 isoform 2", "refseq_ac": [ { "id": "NP_001139815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139815", "type": "external" } ], "gene_names_uniprotkb": "SLC66A2; PQLC1", "gene_names_refseq": "PQLC1; SLC66A2", "protein_names_uniprotkb": "Solute carrier family 66 member 2; PQ-loop repeat-containing protein 1", "protein_names_refseq": "PQ loop repeat containing 1; PQ-loop repeat-containing protein 1; solute carrier family 66 member 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80148)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;16959974;20166139;24366607;24715725;25418920;25576301;25892735;29393594;31217245;31530632;31844290;31848261;32157095;32387766;32502341;32938616;32983136;33912179;34087483;34561969;35051231;35580925;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B7Z7D9;G5E989;Q9H6D0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0010008 endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0045332 phospholipid translocation;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8N2U9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWH6-1", "uniprot_id": [ { "id": "RPAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWH6", "type": "external" } ], "mass": 152755.0, "length": 1393, "protein_name": "RNA polymerase II-associated protein 1", "gene_name": "RPAP1", "organism": "Human", "refseq_name": "RNA polymerase II-associated protein 1", "refseq_ac": [ { "id": "NP_056355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056355", "type": "external" } ], "gene_names_uniprotkb": "RPAP1; KIAA1403", "gene_names_refseq": "RPAP1", "protein_names_uniprotkb": "RNA polymerase II-associated protein 1", "protein_names_refseq": "RNA polymerase II-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26015)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;15282305;15302935;15345747;16959974;17374514;17643375;18691976;19413330;19664994;20068231;23186163;23301498;23481700;24366607;24715725;25418920;25576301;25645385;25892735;26154972;26811146;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;30315122;30410026;30429286;30779550;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34211107;34509645;35051231;35580925;36241641", "class_list": "", "function": "Data report the purification of RNA polymerase II-associated protein 1 (RPAP1), a 153-kDa polypeptide of unknown function., [RefSeq, PubMed]; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Required for interaction of the RNA polymerase II complex with acetylated histone H3., [UniProtKB, PubMed]; SII is important for preventing cellular death due to oxidative DNA damage, assisting RNAPII to bypass 8-oxoG, [RefSeq, PubMed]; This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9H9I2;Q9NSQ5;Q9P2E4;Q9UFS7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000428 DNA-directed RNA polymerase complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9BWH6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "G3V0H7-1", "uniprot_id": [ { "id": "SO1B7_HUMAN", "url": "https://www.uniprot.org/uniprot/G3V0H7", "type": "external" } ], "mass": 71247.0, "length": 640, "protein_name": "Putative solute carrier organic anion transporter family member 1B7", "gene_name": "SLCO1B7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SLCO1B7; LST3TM12; LST3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative solute carrier organic anion transporter family member 1B7; LST-3; Liver-specific organic anion transporter 3; OATP1B7; Putative organic anion transporting polypeptide 1B7", "protein_names_refseq": "", "tax_id": 9606, "disease": "cholestasis (Disease Ontology:DOID:13580); bilirubin metabolic disorder (Disease Ontology:DOID:2741)", "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": 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": "Q71QF0", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0015125 bile acid transmembrane transporter activity", "go_cellular_component": "GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015721 bile acid and bile salt transport;GO:0043252 sodium-independent organic anion transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "G3V0H7-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXA9-1", "uniprot_id": [ { "id": "SREK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXA9", "type": "external" } ], "mass": 59380.0, "length": 508, "protein_name": "Splicing regulatory glutamine/lysine-rich protein 1", "gene_name": "SREK1", "organism": "Human", "refseq_name": "splicing regulatory glutamine/lysine-rich protein 1 isoform a", "refseq_ac": [ { "id": "NP_001070667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070667", "type": "external" } ], "gene_names_uniprotkb": "SREK1; SFRS12; SRRP86", "gene_names_refseq": "SFRS12; SREK1; SRrp508; SRrp86", "protein_names_uniprotkb": "Splicing regulatory glutamine/lysine-rich protein 1; SRrp508; SRrp86; Serine/arginine-rich-splicing regulatory protein 86; Splicing factor, arginine/serine-rich 12; Splicing regulatory protein 508", "protein_names_refseq": "serine-arginine-rich splicing regulatory protein 508; serine/arginine-rich-splicing regulatory protein 86; splicing factor, arginine/serine-rich 12; splicing regulatory glutamic acid/lysine-rich protein 1; splicing regulatory glutamine/lysine-rich protein 1 isoform a; splicing regulatory glutamine/lysine-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:140890)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;11991645;12043562;12176931;12183448;15456940;17081983;18669648;18991276;19651622;20068231;23186163;23301498;23481700;24715725;25576301;26154972;26992070;27600516;27846572;28063628;28228285;28832583;29242379;29557506;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32938616;32983136;33141586;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34556983;35051231;35251023;35296659;35580925;36010968;36241641;37217939;37938771;38665916;39894887", "class_list": "", "function": "P18SRP is a lysine-rich zinc finger domain-containing protein that interacts with the serine-arginine-rich splicing regulatory protein SRrp86; it is downregulated in brain of Alzheimer disease patients., [RefSeq, PubMed]; Participates in the regulation of alternative splicing by modulating the activity of other splice facors. Inhibits the splicing activity of SFRS1, SFRS2 and SFRS6. Augments the splicing activity of SFRS3 (By similarity)., [UniProtKB]; SRrp86 can activate SRp20 and repress SC35 in a dose-dependent manner both in vitro and in vivo, [RefSeq, PubMed]; The aberrant upregulation of exon 10-inclusive SREK1 through SRSF10 acts as an oncogenic driver in human hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The rs74794265 SNP of the SREK1 Gene is Associated with COPD in Kashi, China. Publication Status: Online-Only, [RefSeq, PubMed]; The unique glutamic acid-lysine domain of SRrp86 plays a modulatory role controlling serine-arginine domain function, [RefSeq, PubMed]; This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FTW3;Q2M1J0;Q86X37", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8WXA9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78395-1", "uniprot_id": [ { "id": "PRAME_HUMAN", "url": "https://www.uniprot.org/uniprot/P78395", "type": "external" } ], "mass": 57890.0, "length": 509, "protein_name": "Melanoma antigen preferentially expressed in tumors", "gene_name": "PRAME", "organism": "Human", "refseq_name": "melanoma antigen preferentially expressed in tumors isoform a", "refseq_ac": [ { "id": "NP_001278644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278644", "type": "external" } ], "gene_names_uniprotkb": "PRAME; MAPE; OIP4", "gene_names_refseq": "CT130; MAPE; OIP-4; OIP4; PRAME", "protein_names_uniprotkb": "Melanoma antigen preferentially expressed in tumors; OIP-4; Opa-interacting protein 4; Preferentially expressed antigen of melanoma", "protein_names_refseq": "Opa-interacting protein OIP4; cancer/testis antigen 130; melanoma antigen preferentially expressed in tumors isoform a; melanoma antigen preferentially expressed in tumors; opa-interacting protein 4; preferentially expressed antigen in melanoma; preferentially expressed antigen of melanoma", "tax_id": 9606, "disease": "mantle cell lymphoma (Disease Ontology:DOID:0050746); myelodysplastic syndrome (Disease Ontology:DOID:0050908); acute promyelocytic leukemia (Disease Ontology:DOID:0060318); breast cancer (Disease Ontology:DOID:1612); melanoma (Disease Ontology:DOID:1909); osteosarcoma (Disease Ontology:DOID:3347); ovary adenocarcinoma (Disease Ontology:DOID:3713); lung adenocarcinoma (Disease Ontology:DOID:3910); uveal melanoma (Disease Ontology:DOID:6039); neuroblastoma (Disease Ontology:DOID:769); chronic myeloid leukemia (Disease Ontology:DOID:8552); Hodgkin's lymphoma (Disease Ontology:DOID:8567); myeloid leukemia (Disease Ontology:DOID:8692); acute megakaryocytic leukemia (Disease Ontology:DOID:8761); acute myeloid leukemia (Disease Ontology:DOID:9119); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:23532)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;16179254;16237088;16620968;18477386;20112406;21760528;21822215;22424782;22898188;23186163;23460923;23481700;24154794;24315637;25395422;25415440;25505266;25548167;25645385;26138980;26992070;27600516;27869121;27893789;28218747;28514659;28628042;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29738081;29786170;30524438;31217245;31575892;31844290;32157095;32184297;32265295;32357974;32387766;32488085;32502341;32582212;32897882;32938616;33091337;33141586;33691108;33832817;33912179;34171305;34290406;34509645;35051231;35580925;35799423;36010968;36241641;38085958;38338862;38509752;38596687;38740147;39362949;9047241;9466265", "class_list": "", "function": "Characterization of PRAME immunohistochemistry reveals lower expression in pediatric melanoma compared to adult melanoma., [RefSeq, PubMed]; PRAME Updated: Diagnostic, Prognostic, and Therapeutic Role in Skin Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; PRAME expression in fibrosarcomatous dermatofibrosarcoma protuberans. Publication Status: Online-Only, [RefSeq, PubMed]; PReferentially Expressed Antigen in MElanoma Expression in Uterine and Ovarian Carcinosarcomas., [RefSeq, PubMed]; Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex, which mediates ubiquitination of target proteins, leading to their degradation (PubMed:21822215, PubMed:26138980). The CRL2(PRAME) complex mediates ubiquitination and degradation of truncated MSRB1/SEPX1 selenoproteins produced by failed UGA/Sec decoding (PubMed:26138980). In the nucleus, the CRL2(PRAME) complex is recruited to epigenetically and transcriptionally active promoter regions bound by nuclear transcription factor Y (NFY) and probably plays a role in chromstin regulation (PubMed:21822215). Functions as a transcriptional repressor, inhibiting the signaling of retinoic acid through the retinoic acid receptors RARA, RARB and RARG: prevents retinoic acid-induced cell proliferation arrest, differentiation and apoptosis (PubMed:16179254)., [UniProtKB, PubMed, PubMed, PubMed]; Targeting PRAME for acute myeloid leukemia therapy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [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": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "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": "B2R6Y7;O43481;Q8IXN8", "ec_number_list": [], "go_molecular_function": "GO:0042974 nuclear retinoic acid receptor binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P78395-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46721-1", "uniprot_id": [ { "id": "SO1A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P46721", "type": "external" } ], "mass": 74145.0, "length": 670, "protein_name": "Solute carrier organic anion transporter family member 1A2", "gene_name": "SLCO1A2", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 1A2 isoform 1", "refseq_ac": [ { "id": "NP_066580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066580", "type": "external" } ], "gene_names_uniprotkb": "SLCO1A2; OATP1A2; OATP1; OATP; SLC21A3", "gene_names_refseq": "OATP-A; OATP1A2; OATP; SLC21A3; SLCO1A2", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 1A2; OATP-1; OATP-A; OATP1A2; Organic anion-transporting polypeptide 1; Sodium-independent organic anion transporter; Solute carrier family 21 member 3", "protein_names_refseq": "OATP-1; organic anion transporting polypeptide A; organic anion-transporting polypeptide 1; sodium-independent organic anion transporter; solute carrier family 21 (organic anion transporter), member 3; solute carrier family 21 member 3; solute carrier organic anion transporter family member 1A2 isoform 1", "tax_id": 9606, "disease": "primary biliary cholangitis (Disease Ontology:DOID:12236); Dubin-Johnson syndrome (Disease Ontology:DOID:12308); cholestasis (Disease Ontology:DOID:13580); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:6579); (R-HSA-159418); (R-HSA-879518); (R-HSA-9793528)", "pathway_count": 4, "publication_count": 87, "publication_id_list": "10334992;10334993;10358072;10601278;10779507;10873595;10884298;10987286;11159893;11237011;11238933;11316767;11387316;11870371;11877335;11912245;11980911;12220224;12351693;12393883;12404239;12404240;12409283;12486725;12568656;12663868;12704183;12815072;13416382;14699511;14993604;15632119;15716365;15832500;15901800;16317684;16541101;16602760;16908160;16959974;16971491;17274666;17301733;17639028;17650074;18200507;18308854;18381565;1864287;19129463;19797118;20358049;2037576;20686826;21824501;21930826;22354288;22841915;23018617;23243220;23337244;23545524;23918469;24913236;25132355;25527620;25560245;27777271;28505497;30343886;31004787;31323489;3158274;31844290;33392160;35307651;36116173;38432624;7077161;7557095;7588781;8034703;8132774;8383921;8787677;9283689;9539145", "class_list": "", "function": "Comparison of the transport kinetics of fexofenadine and its pH dependency among OATP1A2 genetic variants., [RefSeq, PubMed]; Na(+)-independent transporter that mediates the cellular uptake of a broad range of organic anions such as the endogenous bile salts cholate and deoxycholate, either in their unconjugated or conjugated forms (taurocholate and glycocholate), at the plasmam membrane (PubMed:19129463, PubMed:7557095). Responsible for intestinal absorption of bile acids (By similarity). Transports dehydroepiandrosterone 3-sulfate (DHEAS), a major circulating steroid secreted by the adrenal cortex, as well as estrone 3-sulfate and 17beta-estradiol 17-O-(beta-D-glucuronate) (PubMed:11159893, PubMed:12568656, PubMed:19129463, PubMed:23918469, PubMed:25560245, PubMed:9539145). Mediates apical uptake of all-trans-retinol (atROL) across human retinal pigment epithelium, which is essential to maintaining the integrity of the visual cycle and thus vision (PubMed:25560245). Involved in the uptake of clinically used drugs (PubMed:17301733, PubMed:20686826, PubMed:27777271). Capable of thyroid hormone transport (both T3 or 3,3',5'-triiodo-L-thyronine, and T4 or L-tyroxine) (PubMed:19129463, PubMed:20358049). Also transports prostaglandin E2 (PubMed:19129463). Plays roles in blood-brain and -cerebrospinal fluid barrier transport of organic anions and signal mediators, and in hormone uptake by neural cells (By similarity). May also play a role in the reuptake of neuropeptides such as substance P/TAC1 and vasoactive intestinal peptide/VIP released from retinal neurons (PubMed:25132355). May play an important role in plasma and tissue distribution of the structurally diverse chemotherapeutic drugs methotrexate and paclitaxel (PubMed:23243220). Shows a pH-sensitive substrate specificity which may be ascribed to the protonation state of the binding site and leads to a stimulation of substrate transport in an acidic microenvironment (PubMed:19129463). Hydrogencarbonate/HCO3(-) acts as the probable counteranion that exchanges for organic anions (PubMed:19129463). May contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Effects of N-Glycosylation on the Expression and Transport Activity of OATP1A2 and OATP2B1., [RefSeq, PubMed]; This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "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": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q9UGP7;Q9UL38", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015125 bile acid transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0009925 basal plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0015721 bile acid and bile salt transport;GO:0006805 xenobiotic metabolic process;GO:0015711 organic anion transport;GO:0043252 sodium-independent organic anion transport", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P46721-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000100010000.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53814-1", "uniprot_id": [ { "id": "SMTN_HUMAN", "url": "https://www.uniprot.org/uniprot/P53814", "type": "external" } ], "mass": 99059.0, "length": 917, "protein_name": "Smoothelin", "gene_name": "SMTN", "organism": "Human", "refseq_name": "smoothelin isoform d", "refseq_ac": [ { "id": "NP_001193946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193946", "type": "external" } ], "gene_names_uniprotkb": "SMTN; SMSMO", "gene_names_refseq": "SMTN", "protein_names_uniprotkb": "Smoothelin", "protein_names_refseq": "smoothelin isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:6525)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "10023782;11237011;11316948;12176134;15302935;16959974;18160138;18477386;18669648;19007248;19664995;19690332;19691289;20068231;23186163;23481700;24551305;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26154972;26992070;27184662;27397612;27600516;27846572;27862975;28411811;28832583;28904123;29242379;29331515;29508533;29557506;29632711;29769354;29786170;30315122;30379171;31844290;32157095;32387766;32488085;32502341;32897882;32938616;33090031;33141586;33298915;33592498;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34725712;35051231;35254053;35580925;36284347;37217939;37938771;38253038;39531497;40136647;40307207;41350704;8707825", "class_list": "", "function": "Analysis of Tumor Depth Invasion With Anti-Smoothelin Antibody in Equivocal Transurethral Resection of Urinary Bladder Tumor Surgical Specimens., [RefSeq, PubMed]; Caldesmon and smoothelin staining allows better delineation of the muscularis propria from the desmoplastic stromal reaction which provides a critical aide for proper staging of colonic adenocarcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Smoothelin is a specific marker for smooth muscle cells with contractile capacity which has not been widely studied in glomus lesions. in this study, glomic cells showed cytoplasmic positivity for smoothelin. Smoothelin expression in glomic cells indicates that they are contractile smooth muscle cells, and thus its role in routine diagnosis should be considered., [RefSeq, PubMed]; Structural protein of the cytoskeleton., [UniProtKB]; This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 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": 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": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "O00569;O95769;O95937;Q8N4H8;Q8WWW1;Q8WWW2;Q9P1S8;Q9UIT1;Q9UIT2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008307 structural constituent of muscle", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005856 cytoskeleton;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0006939 smooth muscle contraction;GO:0030036 actin cytoskeleton organization;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P53814-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHU3-1", "uniprot_id": [ { "id": "SMS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHU3", "type": "external" } ], "mass": 42280.0, "length": 365, "protein_name": "Phosphatidylcholine:ceramide cholinephosphotransferase 2", "gene_name": "SGMS2", "organism": "Human", "refseq_name": "phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1", "refseq_ac": [ { "id": "NP_001129729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129729", "type": "external" } ], "gene_names_uniprotkb": "SGMS2; SMS2", "gene_names_refseq": "CDL; SGMS2; SMS2", "protein_names_uniprotkb": "Phosphatidylcholine:ceramide cholinephosphotransferase 2; 2.7.8.27; SMS2; Sphingomyelin synthase 2", "protein_names_refseq": "SM synthase; phosphatidylcholine:ceramide cholinephosphotransferase 2 isoform 1; phosphatidylcholine:ceramide cholinephosphotransferase 2", "tax_id": 9606, "disease": "calvarial doughnut lesions with bone fragility (Disease Ontology:DOID:0080721)", "pathway": " (hsa:166929); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16508036;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17616479;17982138;18165232;18165233;18184806;18370930;18694848;19005213;19233134;19416851;19454763;19506037;19839042;20061445;20110355;20182505;21620961;21980337;22517924;22970244;23180825;23602659;23754960;24569996;24782409;25788259;28575652;29563527;30779713;31895563;32161166;32350084;32938616;33968037;34433824;35409383;36691044;36902339;36907437;37175737;37224812;37390971;37849429;37886644;38285090;38388831;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that sphingomyelin synthases SMS1 and SMS2 are co-expressed in a variety of cell types and function as the key Golgi- and plasma membrane-associated SM synthases in human cervical carcinoma HeLa cells, respectively., [RefSeq, PubMed]; Identification of SGMS2 as a molecule involved in natural killer cell recruitment and its in-deep analysis in the liver cancer microenvironment: Evidence from large populations cohort., [RefSeq, PubMed]; LARP6 suppresses colorectal cancer progression through ZNF267/SGMS2-mediated imbalance of sphingomyelin synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; Results indicate that both synthase (SMS)1 and 2 contribute to sphingomyelin (SM) de novo synthesis and control SM levels in the cells and on the cell membrane including plasma membrane., [RefSeq, PubMed]; SGMS2 in primary osteoporosis with facial nerve palsy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; SMS2 is a key factor in control of sphingomyelin and diacylglycerol metabolism within the cell, and thus it influences apoptosis., [RefSeq, PubMed]; SMS2 regulates subcellular pools of diacylglycerol-binding proteins in the Golgi apparatus., [RefSeq, PubMed]; Sphingomyelin synthase 2 promotes the stemness of breast cancer cells via modulating NF-kappaB signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Sphingomyelin synthase that primarily contributes to sphingomyelin synthesis and homeostasis at the plasma membrane. Catalyzes the reversible transfer of phosphocholine moiety in sphingomyelin biosynthesis: in the forward reaction transfers phosphocholine head group of phosphatidylcholine (PC) on to ceramide (CER) to form ceramide phosphocholine (sphingomyelin, SM) and diacylglycerol (DAG) as by-product, and in the reverse reaction transfers phosphocholine from SM to DAG to form PC and CER (PubMed:14685263, PubMed:17449912, PubMed:17982138, PubMed:18370930, PubMed:38388831). The direction of the reaction appears to depend on the levels of CER and DAG in the plasma membrane (PubMed:14685263, PubMed:17449912, PubMed:17982138, PubMed:18370930). Does not use free phosphorylcholine or CDP-choline as donors (PubMed:14685263). Can also transfer phosphoethanolamine head group of phosphatidylethanolamine (PE) on to ceramide (CER) to form ceramide phosphoethanolamine (CPE) (PubMed:19454763). Regulates receptor-mediated signal transduction via mitogenic DAG and proapoptotic CER, as well as via SM, a structural component of membrane rafts that serve as platforms for signal transduction and protein sorting (PubMed:17449912, PubMed:17982138). To a lesser extent, plays a role in secretory transport via regulation of DAG pool at the Golgi apparatus and its downstream effects on PRKD1 (PubMed:18370930, PubMed:21980337). Required for normal bone matrix mineralization (PubMed:30779713)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 383, "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": "A8K2S9;B2RA61", "ec_number_list": [ { "id": "2.7.8.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.27", "type": "external" }, { "id": "2.7.8.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.-", "type": "external" }, { "id": "3.1.4.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.62", "type": "external" } ], "go_molecular_function": "GO:0002950 ceramide phosphoethanolamine synthase activity;GO:0033188 sphingomyelin synthase activity;GO:0047493 ceramide cholinephosphotransferase activity;GO:0016301 kinase activity;GO:0016780 phosphotransferase activity, for other substituted phosphate groups", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0030500 regulation of bone mineralization;GO:0006665 sphingolipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q8NHU3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ61-1", "uniprot_id": [ { "id": "TRIR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ61", "type": "external" } ], "mass": 18419.0, "length": 176, "protein_name": "Telomerase RNA component-interacting RNase", "gene_name": "TRIR", "organism": "Human", "refseq_name": "telomerase RNA component interacting RNase isoform 2", "refseq_ac": [ { "id": "NP_001316667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316667", "type": "external" } ], "gene_names_uniprotkb": "TRIR; C19orf43", "gene_names_refseq": "C19orf43; TERCIR; TRIR; fSAP18", "protein_names_uniprotkb": "Telomerase RNA component-interacting RNase; 3.1.13.-; Exoribonuclease TRIR", "protein_names_refseq": "My029 protein; exoribonuclease TRIR; telomerase RNA component interacting RNase isoform 2; uncharacterized protein C19orf43", "tax_id": 9606, "disease": "", "pathway": " (hsa:79002)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;17287340;18212344;18452278;19608861;20068231;21993680;24714562;24715725;25505266;25576301;25810538;26154972;26728094;26992070;27600516;27846572;27862975;28228285;28322335;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30429286;30484775;30833945;31154438;31844290;31848261;32157095;32161166;32350084;32488085;32502341;32897882;32983136;34087483;34171305;34932366;35051231;35132862;35251023;35580925;37217939;37938771", "class_list": "", "function": "Exoribonuclease that is part of the telomerase RNA 3' end processing complex and which has the ability to cleave all four unpaired RNA nucleotides from the 5' end or 3' end with higher efficiency for purine bases (PubMed:28322335)., [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008408 3'-5' exonuclease activity;GO:0008409 5'-3' exonuclease activity", "go_cellular_component": "", "go_biological_process": "GO:0016075 rRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BQ61-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T83-1", "uniprot_id": [ { "id": "SL9A7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T83", "type": "external" } ], "mass": 80131.0, "length": 725, "protein_name": "Sodium/hydrogen exchanger 7", "gene_name": "SLC9A7", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 7 isoform 2", "refseq_ac": [ { "id": "NP_115980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115980", "type": "external" } ], "gene_names_uniprotkb": "SLC9A7; NHE7", "gene_names_refseq": "MRX108; NHE-7; NHE7; SLC9A7", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 7; NHE-7; Na(+)/H(+) exchanger 7; Solute carrier family 9 member 7", "protein_names_refseq": "Na(+)/H(+) exchanger 7; nonselective sodium potassium/proton exchanger; sodium/hydrogen exchanger 7 isoform 2; solute carrier family 9 (sodium/hydrogen exchanger); solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); X-linked intellectual developmental disorder 108 (Disease Ontology:DOID:0111844)", "pathway": " (hsa:84679); (R-HSA-425986)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;10444453;11237011;11279194;11940519;15522866;15840657;18654930;20364249;22076128;24190977;24767989;2536298;25418920;25502872;25576301;25892735;26992070;27920218;28166740;28218747;28228285;29242379;29393594;29632046;29632711;29769354;29786170;30315122;30335141;31092671;31217245;31844290;32161166;32350084;32502341;32897882;32938616;33691108;34357683;34433824;34932366;35051231;36010968;38152992;7631746;9933641", "class_list": "", "function": "Among the NHE7-binding proteins identified, CD44, a cell surface glycoprotein receptor for hyaluronate and other ligands, showed regulated interaction with NHE7., [RefSeq, PubMed]; Golgi Na(+), K(+)/(H+) antiporter. Mediates the electoneutral influx of Na(+) or K(+) in exchange for H(+). May contribute to the regulation of Golgi apparatus volume and pH., [UniProtKB, PubMed, PubMed]; In a Saudi Arabian cohort of patients with cystinuria, two new variants in the SLC3A1 and SLC9A7 genes were discovered. All of the detected mutations were missense variants in three different exons, such as c.1711 T > A (p.Cys571Ser) (exon 10), c.1166C > T p.Thr389Met (exon 11) and c.1400 T > A p.Met467Lys (exon 8). Publication Status: Online-Only, [RefSeq, PubMed]; NHE7 mediates an acidification of intracellular vesicles that is additive to that of V-ATPases and that accelerates endocytosis., [RefSeq, PubMed]; NHE7 upregulation potentiates the uptake of small extracellular vesicles by enhancing maturation of macropinosomes in hepatocellular carcinoma., [RefSeq, PubMed]; Secretory carrier membrane proteins participate in the shuttling of NHE7 between recycling vesicles and the TGN, [RefSeq, PubMed]; The results suggest that two membrane proximal regions (residues 533-559 and 563-568) play an important role in targeting NHE7 to the TGN, [RefSeq, PubMed]; These data implicate a crucial role for SLC9A7 in the regulation of TGN/post-Golgi pH homeostasis and glycosylation of exported cargo, which may underlie the cellular pathophysiology and neurodevelopmental deficits associated with this particular nonsyndromic form of X-linked intellectual disability., [RefSeq, PubMed]; These results suggest that NHE7 enhances tumor progression., [RefSeq, PubMed]; This gene encodes a sodium and potassium/ proton antiporter that is a member of the solute carrier family 9 protein family. The encoded protein is primarily localized to the trans-Golgi network and is involved in maintaining pH homeostasis in organelles along the secretory and endocytic pathways. This protein may enhance cell growth of certain breast tumors. This gene is part of a gene cluster on chromosome Xp11.23. A pseudogene of this gene is found on chromosome 12. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 19, "reported_interactions": 0, "missing_score": 9820, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O75827;Q5JXP9", "ec_number_list": [ { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.104", "type": "external" } ], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0055037 recycling endosome;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0035725 sodium ion transmembrane transport;GO:0051453 regulation of intracellular pH;GO:0006885 regulation of pH;GO:0071805 potassium ion transmembrane transport;GO:0098719 sodium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96T83-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H173-1", "uniprot_id": [ { "id": "SIL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H173", "type": "external" } ], "mass": 52085.0, "length": 461, "protein_name": "Nucleotide exchange factor SIL1", "gene_name": "SIL1", "organism": "Human", "refseq_name": "nucleotide exchange factor SIL1 precursor", "refseq_ac": [ { "id": "NP_001032722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032722", "type": "external" } ], "gene_names_uniprotkb": "SIL1; PRO836", "gene_names_refseq": "BAP; MSS; SIL1; ULG5", "protein_names_uniprotkb": "Nucleotide exchange factor SIL1; BAP; BiP-associated protein", "protein_names_refseq": "BiP-associated protein; SIL1 homolog, endoplasmic reticulum chaperone; SIL1-like protein endoplasmic reticulum chaperone; nucleotide exchange factor SIL1 precursor; nucleotide exchange factor SIL1", "tax_id": 9606, "disease": "Marinesco-Sjogren syndrome (Disease Ontology:DOID:0080195); primary cerebellar degeneration (Disease Ontology:DOID:9277)", "pathway": " (hsa:64374)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11101517;11237011;12356756;12975309;16282977;16282978;16303743;19159218;20068231;20112406;23090970;23301498;23481700;23584533;24190977;24397554;24714562;24715725;25418920;25502872;25505266;25576301;25813380;26154972;26375851;26728094;26811146;26929215;26992070;27846572;28904123;29393594;29493099;29557506;29741879;30315122;30429286;30459171;30833945;31154438;31530632;31611695;31637018;31844290;31848261;31998317;32125861;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33398168;33398170;33592498;33717175;33912179;33968037;33981976;34171305;34357683;34830330;34932366;35051231;35251023;35318648;35580925;36215666;36241641;36284347;37074911;37116165;37938771;38326650;38665916;39060875;40596516", "class_list": "", "function": "BAP serves as a nucleotide exchange factor for BiP, [RefSeq, PubMed]; Down-Regulation and Clinic-Pathological Correlation of SIK-1 and SIL-1-LNC in Non-Small Cell Lung Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjogren syndrome patients. Publication Status: Online-Only, [RefSeq, PubMed]; Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss. Publication Status: Online-Only, [RefSeq, PubMed]; Required for protein translocation and folding in the endoplasmic reticulum (ER). Functions as a nucleotide exchange factor for the ER lumenal chaperone HSPA5., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [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": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 2, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "D3DQC2;Q8N2L3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051082 unfolded protein binding;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006457 protein folding;GO:0006613 cotranslational protein targeting to membrane;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q9H173-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00241-1", "uniprot_id": [ { "id": "SIRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00241", "type": "external" } ], "mass": 43211.0, "length": 398, "protein_name": "Signal-regulatory protein beta-1", "gene_name": "SIRPB1", "organism": "Human", "refseq_name": "signal-regulatory protein beta-1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001077379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077379", "type": "external" } ], "gene_names_uniprotkb": "SIRPB1", "gene_names_refseq": "CD172b; SIRB1; SIRP-BETA-1; SIRPB1", "protein_names_uniprotkb": "Signal-regulatory protein beta-1; CD172 antigen-like family member B; SIRP-beta-1", "protein_names_refseq": "CD172 antigen-like family member B; signal-regulatory protein beta-1 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10326); (R-HSA-2172127); (R-HSA-391160); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10049942;10449773;10469599;10572074;10604985;10940905;11237011;11602640;12023008;12668644;12776204;14531999;14707061;15265913;15294972;15383453;15557162;15884055;15940674;16081415;16213021;16335952;16623599;16920917;16933987;17012248;17070842;17110943;17202323;17369261;17483134;17641029;18624290;18629938;18657508;19628875;19858347;20093094;20865034;20890284;23090970;23650620;24190977;25576301;25880248;27846572;28832583;28904123;29393594;29557506;29741879;30573663;31349540;31844290;31848261;32350084;32357974;32387766;32983136;33298915;33592498;33912179;34357683;34509645;35051231;35580925;37074911;38427484;38594692;8692836;9062191;9490415;9625766;9655483", "class_list": "", "function": "An Insertion Within SIRPbeta1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response., [RefSeq, PubMed]; Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Immunoglobulin-like cell surface receptor involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes., [UniProtKB, UniProtKB, PubMed]; SIRPB1 regulates inflammatory factor expression in the glioma microenvironment via SYK: functional and bioinformatics insights. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 8796, "biomarker_type": "", "glycan_count": 15, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A6NLM2;B2R8V0;Q5TFQ9;Q5TFR0;Q8TB12;Q9H1U5;Q9Y4V0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030667 secretory granule membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0050766 positive regulation of phagocytosis;GO:0050870 positive regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O00241-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCC5-1", "uniprot_id": [ { "id": "SPX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCC5", "type": "external" } ], "mass": 54486.0, "length": 494, "protein_name": "Sugar phosphate exchanger 3", "gene_name": "SLC37A3", "organism": "Human", "refseq_name": "sugar phosphate exchanger 3 isoform 3", "refseq_ac": [ { "id": "NP_001274427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274427", "type": "external" } ], "gene_names_uniprotkb": "SLC37A3; SPX3", "gene_names_refseq": "SLC37A3; SPX3", "protein_names_uniprotkb": "Sugar phosphate exchanger 3; Solute carrier family 37 member 3", "protein_names_refseq": "solute carrier family 37 (glycerol-3-phosphate transporter), member 3; sugar phosphate exchanger 3 isoform 3; sugar phosphate exchanger 3; sugar-phosphate exchange protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84255)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11230166;11237011;21752829;21949678;25576301;25892735;28467828;28904123;29242379;29557506;29745899;29769354;29786170;31217245;31844290;32157095;32938616;32983136;33936100;33968037;34357683;35051231", "class_list": "", "function": "SLC37A3 protein localizes in lysosomes in HeLa cells, [RefSeq, PubMed]; Unlike the other SLC37 members, lacks glucose-6-phosphate antiporter activity (PubMed:21949678). In osteoclasts, forms a transporter complex with ATRAID for nitrogen-containing-bisphophonates (N-BPs) required for releasing N-BP molecules that have trafficked to lysosomes through fluid-phase endocytosis into the cytosol (PubMed:29745899)., [UniProtKB, 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": 15, "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": "Q6PIU7;Q86SS4;Q9BQG7", "ec_number_list": [], "go_molecular_function": "GO:0042910 xenobiotic transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006855 xenobiotic transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8NCC5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCH5-1", "uniprot_id": [ { "id": "SYTL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCH5", "type": "external" } ], "mass": 104930.0, "length": 934, "protein_name": "Synaptotagmin-like protein 2", "gene_name": "SYTL2", "organism": "Human", "refseq_name": "synaptotagmin-like protein 2 isoform g", "refseq_ac": [ { "id": "NP_001156423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156423", "type": "external" } ], "gene_names_uniprotkb": "SYTL2; KIAA1597; SGA72M; SLP2A; SLP2", "gene_names_refseq": "CHR11SYT; EXO4; PPP1R151; SGA72M; SLP2A; SLP2; SYTL2", "protein_names_uniprotkb": "Synaptotagmin-like protein 2; Breast cancer-associated antigen SGA-72M; Exophilin-4", "protein_names_refseq": "breast cancer-associated antigen SGA-72M; chromosome 11 synaptotagmin; exophilin-4; protein phosphatase 1, regulatory subunit 151; synaptotagmin-like protein 2 isoform g; synaptotagmin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54843); (R-HSA-9824585)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10587587;11237011;11532965;11856727;11964381;12062444;1321344;1537333;1537334;15543135;15695812;15729346;16303920;17182843;17952075;18266782;18483556;18697795;18812475;18940603;19389701;19717472;24267888;24715725;25576301;25645385;26090577;26154972;26694611;26992070;27220283;27600516;27846572;27862975;28832583;29237092;29242379;29485866;29493099;29557506;30379171;30515787;30620550;30779550;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32488085;32502341;32938616;32983136;33100333;33123756;33592498;33853352;33981976;34087483;35051231;35308027;35318648;35580127;35580925;36010968;36284347;37147713;37640670;37938771;39302247;40914422;7813420;8306979;8921401;9758418", "class_list": "", "function": "Effects of COL1A1 and SYTL2 on inflammatory cell infiltration and poor extracellular matrix remodeling of the vascular wall in thoracic aortic aneurysm., [RefSeq, PubMed]; Isoform 1 acts as a RAB27A effector protein and plays a role in cytotoxic granule exocytosis in lymphocytes. It is required for cytotoxic granule docking at the immunologic synapse. Isoform 4 binds phosphatidylserine (PS) and phosphatidylinositol-4,5-bisphosphate (PIP2) and promotes the recruitment of glucagon-containing granules to the cell membrane in pancreatic alpha cells. Binding to PS is inhibited by Ca(2+) while binding to PIP2 is Ca(2+) insensitive., [UniProtKB, PubMed, PubMed, PubMed]; Overexpression of SYTL2 promoted metastatic potential., [RefSeq, PubMed]; Rab27a recruits Slp2a-hem on vesicular structures in peripheral CTLs and following CTL-target cell conjugate formation, the Slp2a-hem/Rab27a complex colocalizes with perforin-containing granules at the immunologic synapse, [RefSeq, PubMed]; SYTL2 promotes metastasis of prostate cancer cells by enhancing FSCN1-mediated pseudopodia formation and invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptotagmin-Like Protein 2a Regulates Angiogenic Lumen Formation via Weibel-Palade Body Apical Secretion of Angiopoietin-2., [RefSeq, PubMed]; The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[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": 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": 2, "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": "B3KRS3;B4DJT5;B4DKW3;B4DQ26;B7SA85;B7ZLX6;B7ZLX7;Q2YDA7;Q6TV07;Q6ZN59;Q6ZVC5;Q8ND34;Q96BJ2;Q9H768;Q9NXM1", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0031267 small GTPase binding;GO:0001786 phosphatidylserine binding;GO:0019902 phosphatase binding;GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0042470 melanosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0006887 exocytosis;GO:0006904 vesicle docking involved in exocytosis", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9HCH5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGN4-1", "uniprot_id": [ { "id": "PRA25_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGN4", "type": "external" } ], "mass": 55354.0, "length": 478, "protein_name": "PRAME family member 25", "gene_name": "PRAMEF25", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRAMEF25", "gene_names_refseq": "", "protein_names_uniprotkb": "PRAME family member 25", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:441873); (hsa:645359)", "pathway_count": 2, "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:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NGN4-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWM6-1", "uniprot_id": [ { "id": "PRA13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWM6", "type": "external" } ], "mass": 54914.0, "length": 474, "protein_name": "PRAME family member 13", "gene_name": "PRAMEF13", "organism": "Human", "refseq_name": "PRAME family member 13", "refseq_ac": [ { "id": "NP_001278309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278309", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF13", "gene_names_refseq": "PRAMEF13", "protein_names_uniprotkb": "PRAME family member 13", "protein_names_refseq": "PRAME family member 13; PRAME family member-like; putative PRAME family member 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:400736)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5VWM6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99575-1", "uniprot_id": [ { "id": "POP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99575", "type": "external" } ], "mass": 114709.0, "length": 1024, "protein_name": "Ribonucleases P/MRP protein subunit POP1", "gene_name": "POP1", "organism": "Human", "refseq_name": "ribonucleases P/MRP protein subunit POP1", "refseq_ac": [ { "id": "NP_001139332", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139332", "type": "external" } ], "gene_names_uniprotkb": "POP1; KIAA0061", "gene_names_refseq": "ANXD2; POP1", "protein_names_uniprotkb": "Ribonucleases P/MRP protein subunit POP1; hPOP1", "protein_names_refseq": "POP1 homolog, ribonuclease P/MRP subunit; hPOP1; processing of precursor 1, ribonuclease P/MRP subunit; processing of precursors 1; ribonucleases P/MRP protein subunit POP1", "tax_id": 9606, "disease": "anauxetic dysplasia 2 (Disease Ontology:DOID:0080962)", "pathway": " (hsa:10940); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10.1101/2023.09.13.557529;10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15317868;16361254;16710424;16723659;16959974;17081983;17204286;17224653;17322306;17525332;17924679;18077418;18226598;18452278;18491316;18669648;18767875;18809514;18984158;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20058876;20068231;21311021;21406692;21450806;21455487;21559454;21593607;22544926;22944664;23186163;24366607;2470644;24715725;24870230;25576301;25640237;25849199;26992070;27380734;27846572;27920218;28067412;28115465;28218747;28228285;28832583;28904123;29242379;29393594;29508533;29632046;29930882;30454648;30524438;30779550;31217245;31373491;31530632;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33214551;33298915;33912179;33936100;33968037;33981976;34019948;34211107;34509645;35051231;35083852;35254053;36010968;36084948;36215666;36225929;36241641;37010429;38763227;40596516;40914422;6930639;7759547;7828588;8918471;9512417;9660920", "class_list": "", "function": "Clinical significance for diagnosis and prognosis of POP1 and its potential role in breast cancer: a comprehensive analysis based on multiple databases., [RefSeq, PubMed]; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:30454648, PubMed:8918471). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465)., [UniProtKB, PubMed, PubMed, PubMed]; PGC-1alpha inhibits NLRP3 signaling through transcriptional activation of POP1 to alleviate inflammation and strengthen osteogenic differentiation of lipopolysaccharide-induced human periodontal stem cells., [RefSeq, PubMed]; POP1 inhibits MSU-induced inflammasome activation and ameliorates gout. Publication Status: Online-Only, [RefSeq, PubMed]; POP1 promotes the progression of breast cancer through maintaining telomere integrity., [RefSeq, PubMed]; This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 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": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "A8K5W9;Q15037", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0033204 ribonuclease P RNA binding", "go_cellular_component": "GO:0005655 nucleolar ribonuclease P complex;GO:0030681 multimeric ribonuclease P complex;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0016078 tRNA decay;GO:0006396 RNA processing;GO:0008033 tRNA processing;GO:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q99575-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10163-1", "uniprot_id": [ { "id": "PRB4_HUMAN", "url": "https://www.uniprot.org/uniprot/P10163", "type": "external" } ], "mass": 31326.0, "length": 310, "protein_name": "Basic salivary proline-rich protein 4", "gene_name": "PRB4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRB4", "gene_names_refseq": "", "protein_names_uniprotkb": "Basic salivary proline-rich protein 4; Parotid o protein; Proline-rich peptide IB-5; Salivary proline-rich protein II-1; Salivary proline-rich protein Po", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:5545)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;18463091;1849422;20879038;24715725;26375851;27726376;27862975;2851479;28855257;29393594;2993301;30524438;30833945;31092671;31154438;31844290;32157095;3220251;32350084;32357974;32983136;35580925;6841349;8373986;8554050", "class_list": "", "function": "", "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": 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": 38, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A1L439;O00600;P02813;P10161;P10162;P81489", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P10163-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02812-1", "uniprot_id": [ { "id": "PRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P02812", "type": "external" } ], "mass": 40809.0, "length": 416, "protein_name": "Basic salivary proline-rich protein 2", "gene_name": "PRB2", "organism": "Human", "refseq_name": "basic salivary proline-rich protein 2 preproprotein", "refseq_ac": [ { "id": "NP_006239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006239", "type": "external" } ], "gene_names_uniprotkb": "PRB2", "gene_names_refseq": "IB-9; PRB2; PRPPRB1; Ps; cP7", "protein_names_uniprotkb": "Basic salivary proline-rich protein 2; Basic peptide P-F; Con1 glycoprotein; IB-9; Salivary proline-rich protein", "protein_names_refseq": "Basic proline-rich peptide P-E; basic salivary proline-rich protein 2 preproprotein; basic salivary proline-rich protein 2; con1 glycoprotein; proline-rich protein BstNI, subfamily-2 (parotid size variant); salivary proline-rich protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:653247)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;18463091;1849422;19651622;20879038;25205458;27893789;2851479;29393594;29786170;2993301;31154438;3521730;6874669;6924859;7118863;8554050", "class_list": "", "function": "PRb2/p130 cytoplasmic delocalization can lead to cell cycle deregulation, [RefSeq, PubMed]; This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, May 2023]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "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": "O00599;P02811;P04281", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P02812-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14830-1", "uniprot_id": [ { "id": "PPE2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14830", "type": "external" } ], "mass": 86518.0, "length": 753, "protein_name": "Serine/threonine-protein phosphatase with EF-hands 2", "gene_name": "PPEF2", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase with EF-hands 2", "refseq_ac": [ { "id": "NP_006230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006230", "type": "external" } ], "gene_names_uniprotkb": "PPEF2", "gene_names_refseq": "PPEF2; PPP7CB", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase with EF-hands 2; 3.1.3.16; PPEF-2", "protein_names_refseq": "protein phosphatase 7, catalytic subunit, beta isozyme; protein phosphatase with EF hands 2; protein phosphatase, EF-hand calcium binding domain 2; serine/threonine-protein phosphatase with EF-hands 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5470)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;18452278;20674765;28218747;29393594;30429286;33141586;34087483;35051231;38110044;9326663", "class_list": "", "function": "Data suggest that, despite structural divergence, PPEF and PP5 phosphatases may share common interacting partners and functions., [RefSeq, PubMed]; Exome sequencing reveals PPEF2 variant associated with high myopia., [RefSeq, PubMed]; May play a role in phototransduction. May dephosphorylate photoactivated rhodopsin. May function as a calcium sensing regulator of ionic currents, energy production or synaptic transmission., [UniProtKB]; This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) 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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "O14831", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0030145 manganese ion binding;GO:0005509 calcium ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0051879 Hsp90 protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0050906 detection of stimulus involved in sensory perception;GO:0007601 visual perception;GO:0070301 cellular response to hydrogen peroxide;GO:0006470 protein dephosphorylation;GO:0043409 negative regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O14830-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43663-1", "uniprot_id": [ { "id": "PRC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43663", "type": "external" } ], "mass": 71607.0, "length": 620, "protein_name": "Protein regulator of cytokinesis 1", "gene_name": "PRC1", "organism": "Human", "refseq_name": "protein regulator of cytokinesis 1 isoform 4", "refseq_ac": [ { "id": "NP_001254509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254509", "type": "external" } ], "gene_names_uniprotkb": "PRC1", "gene_names_refseq": "ASE1; MAP65; PRC1", "protein_names_uniprotkb": "Protein regulator of cytokinesis 1", "protein_names_refseq": "anaphase spindle elongation 1 homolog; protein regulating cytokinesis 1; protein regulator of cytokinesis 1 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9055); (R-HSA-5625900)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12082078;12802051;14744859;15297875;15625105;16202622;16431929;16565220;16603632;17081983;17351640;17409436;17438553;17512944;18212344;18452278;18669648;18691976;19007248;19468300;19691289;20068230;20068231;20691902;21872626;22293177;22621898;23186163;23444367;23481700;23716662;23940115;24714562;25418920;25576301;25802875;26154972;26375851;26423135;26728094;26758079;26929215;26992070;27846572;27862975;27920218;28832583;28904123;29437277;29493099;29508533;29557506;30992425;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33392160;33510346;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35449080;35849559;36010968;36284347;36825683;37227723;37563591;37592895;37738238;38528151;40914422;8543060;9792683;9870942;9870943;9885575", "class_list": "", "function": "CircKDM1B promotes hepatocellular carcinoma progression through regulating miR-1322/PRC1 axis., [RefSeq, PubMed]; Contributes to the correct formation of the spindle during the metaphase, [RefSeq, PubMed]; Genetic associations of TMEM154, PRC1 and ZFAND6 loci with type 2 diabetes in an endogamous business community of North India. Publication Status: Online-Only, [RefSeq, PubMed]; Key regulator of cytokinesis that cross-links antiparrallel microtubules at an average distance of 35 nM. Essential for controlling the spatiotemporal formation of the midzone and successful cytokinesis. Required for KIF14 localization to the central spindle and midbody. Required to recruit PLK1 to the spindle. Stimulates PLK1 phosphorylation of RACGAP1 to allow recruitment of ECT2 to the central spindle. Acts as an oncogene for promoting bladder cancer cells proliferation, apoptosis inhibition and carcinogenic progression (PubMed:17409436)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Kinesin family member 4 and its binding partner PRC1 play essential roles in the organization of central spindles and midzone formation, [RefSeq, PubMed]; PRC1 is a microtubule-associated protein required to maintain the spindle midzone, and that distinct functions are associated with modular elements of the primary sequence., [RefSeq, PubMed]; Phosphorylation controls spatial and temporal activities of motor-PRC1 complexes to complete mitosis., [RefSeq, PubMed]; Protein regulator of cytokinesis 1: a potential oncogenic driver. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis of the histone ubiquitination read-write mechanism of RYBP-PRC1. Erratum:[Nat Struct Mol Biol. 2025 Sep;32(9):1840. doi: 10.1038/s41594-025-01674-7. PMID: 40866579], [RefSeq, PubMed]; This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 23, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NC44;B4DLR1;H9KV59;Q9BSB6", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0019894 kinesin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0051301 cell division;GO:0000226 microtubule cytoskeleton organization;GO:0032465 regulation of cytokinesis;GO:0051256 mitotic spindle midzone assembly", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "O43663-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60810-1", "uniprot_id": [ { "id": "PRAM4_HUMAN", "url": "https://www.uniprot.org/uniprot/O60810", "type": "external" } ], "mass": 55439.0, "length": 478, "protein_name": "PRAME family member 4", "gene_name": "PRAMEF4", "organism": "Human", "refseq_name": "PRAME family member 4", "refseq_ac": [ { "id": "NP_001009611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009611", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF4", "gene_names_refseq": "PRAMEF4", "protein_names_uniprotkb": "PRAME family member 4", "protein_names_refseq": "PRAME family member 4; RP5-845O24.6", "tax_id": 9606, "disease": "", "pathway": " (hsa:400735)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "27240091;29557506", "class_list": "", "function": "PRAMEF4 mutation is associated with cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5LJB5", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "O60810-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60927-1", "uniprot_id": [ { "id": "PP1RB_HUMAN", "url": "https://www.uniprot.org/uniprot/O60927", "type": "external" } ], "mass": 13953.0, "length": 126, "protein_name": "E3 ubiquitin-protein ligase PPP1R11", "gene_name": "PPP1R11", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase PPP1R11", "refseq_ac": [ { "id": "NP_068778", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068778", "type": "external" } ], "gene_names_uniprotkb": "PPP1R11; HCGV; TCTE5", "gene_names_refseq": "CFAP255; HCG-V; HCGV; IPP3; PPP1R11; TCTE5; TCTEX5", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase PPP1R11; 2.3.2.27; HCG V; Hemochromatosis candidate gene V protein; Protein phosphatase 1 regulatory subunit 11; Protein phosphatase inhibitor 3", "protein_names_refseq": "E3 ubiquitin-protein ligase PPP1R11; HCG V; hemochromatosis candidate gene V protein; inhibitor-3; protein phosphatase 1 regulatory subunit 11; protein phosphatase inhibitor 3; t-complex-associated-testis-expressed 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:6992)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;15592455;17081983;18669648;20068231;25576301;27805901;28832583;29351928;30429286;30524438;30882958;31154438;31844290;32157095;32938616;32983136;33592498;33968037;34087483;34171305;35254053;35580925;36010968;8781118;8938444;9843442", "class_list": "", "function": "Atypical E3 ubiquitin-protein ligase which ubiquitinates TLR2 at 'Lys-754' leading to its degradation by the proteasome. Plays a role in regulating inflammatory cytokine release and gram-positive bacterial clearance by functioning, in part, through the ubiquitination and degradation of TLR2 (PubMed:27805901). Inhibitor of protein phosphatase 1 (PubMed:9843442)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [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": 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": 6, "reported_glycation": 0, "reported_snv": 7, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity;GO:0061630 ubiquitin protein ligase activity;GO:0008157 protein phosphatase 1 binding;GO:0004864 protein phosphatase inhibitor activity;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0001818 negative regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O60927-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95428-1", "uniprot_id": [ { "id": "PPN_HUMAN", "url": "https://www.uniprot.org/uniprot/O95428", "type": "external" } ], "mass": 137700.0, "length": 1278, "protein_name": "Papilin", "gene_name": "PAPLN", "organism": "Human", "refseq_name": "papilin isoform 1 precursor", "refseq_ac": [ { "id": "NP_775733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775733", "type": "external" } ], "gene_names_uniprotkb": "PAPLN; PRO4977", "gene_names_refseq": "PAPLN; PPN", "protein_names_uniprotkb": "Papilin", "protein_names_refseq": "papilin isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:89932)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;12975309;19724244;23584533;25813380;29393594;29557506;30388611;30429286;30459171;31848261;32161166;32387766;34171305;35051231;36010968", "class_list": "", "function": "ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of the uterosacral ligament play essential roles in the etiopathogenesis of pelvic organ prolapse among postmenopausal women without stress urinary incontinence., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "B4DES8;B4DGE6;Q659F2;Q6UXJ4;Q6ZNM1;Q6ZUJ0;Q7Z681;Q8IVU0", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005604 basement membrane", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "O95428-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95521-1", "uniprot_id": [ { "id": "PRAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95521", "type": "external" } ], "mass": 55149.0, "length": 474, "protein_name": "PRAME family member 1", "gene_name": "PRAMEF1", "organism": "Human", "refseq_name": "PRAME family member 1 isoform 1", "refseq_ac": [ { "id": "NP_075389", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075389", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF1", "gene_names_refseq": "PRAMEF1", "protein_names_uniprotkb": "PRAME family member 1", "protein_names_refseq": "PRAME family member 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:65121)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "35051231;35494241", "class_list": "", "function": "This gene is a member of the PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. [provided by RefSeq, Jun 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": 21, "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": "Q9UQP2", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "O95521-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95522-1", "uniprot_id": [ { "id": "PRA12_HUMAN", "url": "https://www.uniprot.org/uniprot/O95522", "type": "external" } ], "mass": 54633.0, "length": 483, "protein_name": "PRAME family member 12", "gene_name": "PRAMEF12", "organism": "Human", "refseq_name": "PRAME family member 12", "refseq_ac": [ { "id": "NP_001074299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074299", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF12", "gene_names_refseq": "PRAMEF12", "protein_names_uniprotkb": "PRAME family member 12", "protein_names_refseq": "PRAME family member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:390999)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28228285;31530632;31844290;32265295;38913622", "class_list": "", "function": "PRAMEF12, a novel cancer/testis gene, regulates proliferation and apoptosis to promote progression of glioma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O95522-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG39-1", "uniprot_id": [ { "id": "POTEJ_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG39", "type": "external" } ], "mass": 117390.0, "length": 1038, "protein_name": "POTE ankyrin domain family member J", "gene_name": "POTEJ", "organism": "Human", "refseq_name": "POTE ankyrin domain family member J", "refseq_ac": [ { "id": "NP_001264012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264012", "type": "external" } ], "gene_names_uniprotkb": "POTEJ", "gene_names_refseq": "POTE2beta; POTEJ", "protein_names_uniprotkb": "POTE ankyrin domain family member J", "protein_names_refseq": "POTE ankyrin domain family member J", "tax_id": 9606, "disease": "", "pathway": " (hsa:653781)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "32502341;33141586;35051231;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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0098973 structural constituent of postsynaptic actin cytoskeleton", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0CG39-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32119-1", "uniprot_id": [ { "id": "PRDX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P32119", "type": "external" } ], "mass": 21892.0, "length": 198, "protein_name": "Peroxiredoxin-2", "gene_name": "PRDX2", "organism": "Human", "refseq_name": "peroxiredoxin-2", "refseq_ac": [ { "id": "NP_005800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005800", "type": "external" } ], "gene_names_uniprotkb": "PRDX2; NKEFB; TDPX1", "gene_names_refseq": "HEL-S-2a; NKEF-B; NKEFB; PRDX2; PRP; PRX2; PRXII; PTX1; TDPX1; TPX1; TSA", "protein_names_uniprotkb": "Peroxiredoxin-2; 1.11.1.24; NKEF-B; Natural killer cell-enhancing factor B; PRP; TSA; Thiol-specific antioxidant protein; Thioredoxin peroxidase 1; Thioredoxin-dependent peroxide reductase 1; Thioredoxin-dependent peroxiredoxin 2", "protein_names_refseq": "epididymis secretory sperm binding protein Li 2a; natural killer cell-enhancing factor B; peroxiredoxin-2; thiol-specific antioxidant 1; thioredoxin peroxidase 1; thioredoxin-dependent peroxide reductase 1; thioredoxin-dependent peroxiredoxin 2; torin", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:7001); (R-HSA-3299685); (R-HSA-5628897); (R-HSA-8862803)", "pathway_count": 4, "publication_count": 222, "publication_id_list": "10029572;10329961;10514471;10521424;10604467;10639123;10656833;10716435;10745013;10830966;10833429;10873855;10919671;10980602;10982;11018045;11029283;11034341;11139407;11237011;11340051;11486029;11507097;11518528;11545734;11853546;11886899;11904290;11912930;11959846;12161445;12203114;12438239;12446202;12453409;12714747;12829378;12853451;1286667;12869586;12906785;13298683;13538944;14651849;14654843;15044467;15046979;15064408;15105503;15223;15280035;15317809;15589136;15590058;15596429;15927447;16140933;16401067;16408927;16413492;16615992;16636147;1668270;16728594;16750198;16760263;16839880;16880213;17141802;17275676;17298220;17486094;17519234;17540029;1763037;17707404;18198340;18344994;18358825;18606987;18691386;18692468;18703498;18936159;18984734;19113821;19219623;19439913;19487573;19542232;19822145;1999334;20070187;20080666;20182617;20305658;20351271;20363977;20367259;20378837;20690882;2071038;21215271;21385867;21393238;21750704;21958598;21967640;22363791;22493009;22869735;22899714;22905912;22910329;22960070;23152058;23164639;23454490;23455484;23775793;24066844;24275569;24366874;24383451;24718924;25047527;25579166;26374642;26375851;26652033;27726376;27892488;28218747;28228285;28514659;28855257;28904123;29093164;29242379;29314611;29393594;29437277;29508533;29557506;29605689;29774024;29786170;29789417;30192525;30397120;30429286;30524438;31020640;31154438;31217245;31222486;31844290;31848261;32119511;32157095;32350084;32387766;32938616;32983136;33043033;33141586;33214551;33298915;33592498;33968037;34019948;34078123;34171305;34229054;34357683;3457020;34725712;35083852;35138101;35154160;35251023;3532102;3619451;36241641;3693360;37938771;38219498;38253038;38294069;38665916;39234629;40596516;5389100;5666113;60;6286671;6961438;7021796;7172448;7487923;7698360;7979252;7989588;8026862;807573;8119488;8144038;8313871;8379940;8428933;8452552;8554614;8663465;9150948;9228946;9295278;9369223;9497357;9639555;9726962;9923614;9926927", "class_list": "", "function": "Implications and progression of peroxiredoxin 2 (PRDX2) in various human diseases. Review article, [RefSeq, PubMed]; Knockdown of PRDX2 Inhibits the Proliferation, Growth, Migration, Invasion, and MMP9 Activity of Ewing's Sarcoma Cells Cultured In Vitro., [RefSeq, PubMed]; PRDX2 regulates stemness contributing to cisplatin resistance and metastasis in bladder cancer., [RefSeq, PubMed]; These findings suggest that Prx II plays an important role in preventing hemolytic anemia from oxidative stress by binding to Hb as a decameric structure to stabilize it., [RefSeq, PubMed]; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events. Might participate in the signaling cascades of growth factors and tumor necrosis factor-alpha by regulating the intracellular concentrations of H(2)O(2)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 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": 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K0C0;P31945;P32118;P35701;Q6FHG4;Q92763;Q9UC23", "ec_number_list": [ { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0016209 antioxidant activity;GO:0008379 thioredoxin peroxidase activity;GO:0140824 thioredoxin-dependent peroxiredoxin activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0043066 negative regulation of apoptotic process;GO:0034599 cellular response to oxidative stress;GO:0042981 regulation of apoptotic process;GO:0045454 cell redox homeostasis", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "P32119-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P86496-1", "uniprot_id": [ { "id": "PR20A_HUMAN", "url": "https://www.uniprot.org/uniprot/P86496", "type": "external" } ], "mass": 23262.0, "length": 221, "protein_name": "Proline-rich protein 20A", "gene_name": "PRR20A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRR20A; PRR20", "gene_names_refseq": "", "protein_names_uniprotkb": "Proline-rich protein 20A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:122183); (hsa:729233); (hsa:729240); (hsa:729246); (hsa:729250)", "pathway_count": 5, "publication_count": 1, "publication_id_list": "30779550", "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": "Q8N7V5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P86496-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00LT1-1", "uniprot_id": [ { "id": "PRCD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00LT1", "type": "external" } ], "mass": 6007.0, "length": 54, "protein_name": "Photoreceptor disk component PRCD", "gene_name": "PRCD", "organism": "Human", "refseq_name": "photoreceptor disk component PRCD", "refseq_ac": [ { "id": "NP_001071088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071088", "type": "external" } ], "gene_names_uniprotkb": "PRCD", "gene_names_refseq": "PRCD; RP36", "protein_names_uniprotkb": "Photoreceptor disk component PRCD; Progressive rod-cone degeneration protein", "protein_names_refseq": "photoreceptor disk component PRCD; progressive rod-cone degeneration protein", "tax_id": 9606, "disease": "retinitis pigmentosa 36 (Disease Ontology:DOID:0110405)", "pathway": " (hsa:768206)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "16938425;20507925;23805042;24992209;27613864", "class_list": "", "function": "Disrupting PRCD palmitoylation eliminating the modified cysteine dramatically affects the stability of PRCD., [RefSeq, PubMed]; Involved in vision., [UniProtKB, PubMed, PubMed]; The identification of a second pathogenic mutation of PRCD in multiple retinitis pigmentosa (RP) patients confirms the role of PRCD in the aetiology of RP in humans., [RefSeq, PubMed]; The identification of a third mutation in PRCD confirms its role in the pathogenesis of retinitis pigmentosa. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is predominantly expressed in the retina, and mutations in this gene are the cause of autosomal recessive retinal degeneration in both humans and dogs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B9EJD4", "ec_number_list": [], "go_molecular_function": "GO:0002046 opsin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0042622 photoreceptor outer segment membrane", "go_biological_process": "GO:0050908 detection of light stimulus involved in visual perception", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q00LT1-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13029-1", "uniprot_id": [ { "id": "PRDM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13029", "type": "external" } ], "mass": 188915.0, "length": 1718, "protein_name": "PR domain zinc finger protein 2", "gene_name": "PRDM2", "organism": "Human", "refseq_name": "PR domain zinc finger protein 2 isoform c", "refseq_ac": [ { "id": "NP_001007258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007258", "type": "external" } ], "gene_names_uniprotkb": "PRDM2; KMT8; RIZ", "gene_names_refseq": "HUMHOXY1; KMT8A; KMT8; MTB-ZF; PRDM2; RIZ1; RIZ2; RIZ", "protein_names_uniprotkb": "PR domain zinc finger protein 2; 2.1.1.355; GATA-3-binding protein G3B; Lysine N-methyltransferase 8; MTB-ZF; MTE-binding protein; PR domain-containing protein 2; Retinoblastoma protein-interacting zinc finger protein; Zinc finger protein RIZ", "protein_names_refseq": "GATA-3 binding protein G3B; MTE-binding protein; PR domain 2; PR domain containing 2, with ZNF domain; PR domain zinc finger protein 2 isoform c; PR domain zinc finger protein 2; PR domain-containing protein 2; lysine N-methyltransferase 8; retinoblastoma protein-binding zinc finger protein; retinoblastoma protein-interacting zinc finger protein; zinc finger protein RIZ; zinc-finger DNA-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7799)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14633678;15302935;17081983;17205536;18082620;18669648;19651622;20058876;20084102;23186163;23481700;24714562;24715725;25576301;25645385;25755297;25880248;26108676;26154972;26728094;26811146;26992070;27869121;27920218;28218747;28228285;28718376;28832583;28904123;29242379;29367689;29393594;29437277;29557506;29632046;29632711;29786170;30379171;30429286;30620550;31154438;31217245;31530632;31844290;31998317;32044406;32157095;32265295;32488085;32938616;32983136;33633747;33717175;33912179;34561969;34932366;35051231;35580925;36964555;37853459;40596516;7538672;7590293;8654390;9006946", "class_list": "", "function": "Exploring the putative role of PRDM1 and PRDM2 transcripts as mediators of T lymphocyte activation. Publication Status: Online-Only, [RefSeq, PubMed]; PRDM2 negatively regulated the expression of c-Myc in somatotroph adenomas, and testified the synergism between PRDM2 gene therapy and c-Myc inhibitor in vitro experiment, [RefSeq, PubMed]; Promoter region methylation of RIZ1 may play an important role in the epigenetic silencing of RIZ1 expression in pituitary adenomas, which may translate into important diagnostic and therapeutic applications, [RefSeq, PubMed]; RIZ2 at the crossroad of the EGF/EGFR signaling in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent histone methyltransferase that specifically methylates 'Lys-9' of histone H3. May function as a DNA-binding transcription factor. Binds to the macrophage-specific TPA-responsive element (MTE) of the HMOX1 (heme oxygenase 1) gene and may act as a transcriptional activator of this gene., [UniProtKB, PubMed]; The authors have found that overexpression of RIZ1 in HEK293 cells reduced the expression of Akt3 protein. Publication Status: Online-Only, [RefSeq, PubMed]; This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 62, "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": "B1AJZ4;B5MC68;Q13149;Q14550;Q5THJ1;Q5VUL9", "ec_number_list": [ { "id": "2.1.1.355", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.355", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" }, { "id": "2.1.1.362", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.362", "type": "external" }, { "id": "2.1.1.361", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361", "type": "external" } ], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q13029-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13356-1", "uniprot_id": [ { "id": "PPIL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13356", "type": "external" } ], "mass": 58823.0, "length": 520, "protein_name": "RING-type E3 ubiquitin-protein ligase PPIL2", "gene_name": "PPIL2", "organism": "Human", "refseq_name": "RING-type E3 ubiquitin-protein ligase PPIL2 isoform a", "refseq_ac": [ { "id": "NP_001304925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304925", "type": "external" } ], "gene_names_uniprotkb": "PPIL2", "gene_names_refseq": "CYC4; CYP60; Cyp-60; PPIL2; UBOX7; hCyP-60", "protein_names_uniprotkb": "RING-type E3 ubiquitin-protein ligase PPIL2; 2.3.2.27; CYC4; Cyclophilin-60; Cyclophilin-like protein Cyp-60; Cyp60; PPIase; Probable inactive peptidyl-prolyl cis-trans isomerase-like 2; Rotamase PPIL2; hCyP-60", "protein_names_refseq": "PPIase; RING-type E3 ubiquitin transferase isomerase-like 2; RING-type E3 ubiquitin-protein ligase PPIL2 isoform a; RING-type E3 ubiquitin-protein ligase PPIL2; U-box domain containing 7; cyclophilin, 60kDa; cyclophilin-60; cyclophilin-like protein CyP-60; peptidyl-prolyl cis-trans isomerase-like 2; peptidylprolyl cis-trans isomerase; peptidylprolyl isomerase (cyclophilin)-like 2; probable inactive peptidyl-prolyl cis-trans isomerase-like 2; rotamase PPIL2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23759); (R-HSA-210991); (R-HSA-72163)", "pathway_count": 3, "publication_count": 169, "publication_id_list": "10880960;10882114;10921872;11014198;11101529;11233976;11237011;11435423;11719518;11943775;11991638;12176931;12411573;12414731;12477934;12558975;14625303;14707126;14713954;15189447;15901826;15946952;16260747;16314458;16809785;17095540;17332742;17606899;17996943;18322460;18477386;18593880;18991276;19103666;19165350;19536130;19608861;19669607;20423332;20676357;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24029068;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25880248;25892735;26154972;26385511;26420826;26728094;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28228285;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29485866;29493099;29557506;29632046;29632711;2963332;29786170;30315122;30315277;30379171;30429286;30484775;30524438;30705154;30728453;30765414;30975767;31217245;31409651;31844290;32157095;32179686;32329775;32350084;32357974;32387766;32494006;32502341;32897882;32938616;32983136;33141586;33243851;33298915;33446560;33509932;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34301950;34357683;34509645;34561969;34822310;34932366;35051231;35251023;35318648;35385551;35561310;35580925;36010968;36241641;36284347;3757028;37938771;39302247;8566756;8608946;8660300;9016565;9242493;9360995;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Common genetic variation in the BACE1-interacting proteins, RTN3 an PPIL2, does not influence platelet b-secretase activity or susceptibility to Alzheimer's disease in this population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Cyclophilin 60 regulates cell surface expression of CD147/EMMPRIN, [RefSeq, PubMed]; Has a ubiquitin-protein ligase activity acting as an E3 ubiquitin protein ligase or as an ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. By mediating 'Lys-48'-linked polyubiquitination of proteins could target them for proteasomal degradation (PubMed:11435423). May also function as a chaperone, playing a role in transport to the cell membrane of BSG/Basigin for instance (PubMed:15946952). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 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": "Q13357;Q8TAH2;Q9BWR8", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" } ], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:0034450 ubiquitin-ubiquitin ligase activity;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006457 protein folding;GO:0000209 protein polyubiquitination;GO:0000398 mRNA splicing, via spliceosome;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q13356-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15063-1", "uniprot_id": [ { "id": "POSTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15063", "type": "external" } ], "mass": 93314.0, "length": 836, "protein_name": "Periostin", "gene_name": "POSTN", "organism": "Human", "refseq_name": "periostin isoform 2 precursor", "refseq_ac": [ { "id": "NP_001129406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129406", "type": "external" } ], "gene_names_uniprotkb": "POSTN; OSF2", "gene_names_refseq": "OSF-2; OSF2; PDLPOSTN; PN; POSTN", "protein_names_uniprotkb": "Periostin; OSF-2; Osteoblast-specific factor 2; PN", "protein_names_refseq": "osteoblast specific factor 2 (fasciclin I-like); periodontal ligament-specific periostin; periostin isoform 2 precursor; periostin, osteoblast specific factor", "tax_id": 9606, "disease": "bone structure disease (Disease Ontology:DOID:0080010); hypertension (Disease Ontology:DOID:10763); aggressive periodontitis (Disease Ontology:DOID:1474); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); periodontitis (Disease Ontology:DOID:824); degenerative disc disease (Disease Ontology:DOID:90); tendinitis (Disease Ontology:DOID:971)", "pathway": " (hsa:10631)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "10.1038/emboj.2013.79;11550156;12235007;15082792;15093540;16335952;18450759;19159218;20934997;21081667;21763681;22079858;23090970;23481700;23584533;23946676;24190977;26273833;27726376;28649982;28855257;29086898;29557506;29741879;29754429;29786170;29789417;30192525;30459171;30524438;31154438;31217245;31844290;32157095;32350084;33043033;34405274;34561969;35051231;35154160;35251023;35494241;35580925;37074911;37938771;38487345;38665916;38771155;38773979;38944256;39067546;40930100;8363580", "class_list": "", "function": "Cancer-associated fibroblast-derived periostin promotes papillary thyroid tumor growth through integrin-FAK-STAT3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that periostin-mediated angiogenesis derives in part from the up-regulation of the vascular endothelial growth factor receptor Flk-1/KDR by endothelial cells through an integrin alpha(v)beta(3)-focal adhesion kinase signaling pathway., [RefSeq, PubMed]; Induces cell attachment and spreading and plays a role in cell adhesion (PubMed:12235007). Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX (By similarity)., [UniProtKB, UniProtKB, PubMed]; Integrated single-cell and bulk RNA sequencing identifies POSTN as a potential biomarker and therapeutic target for rheumatoid arthritis., [RefSeq, PubMed]; Over expression of Periostin promotes metastatic growth of colon cancer by augmenting cell survival via the Akt/PKB pathway, [RefSeq, PubMed]; POSTN Regulates Fibroblast Proliferation and Migration in Laryngotracheal Stenosis Through the TGF-beta/RHOA Pathway., [RefSeq, PubMed]; POSTN promotes nucleus pulposus cell senescence and extracellular matrix metabolism via activing Wnt/beta-catenin and NF-kappaB signal pathway in intervertebral disc degeneration., [RefSeq, PubMed]; Periostin secreted by epithelial ovarian carcinoma is a ligand for alpha(V)beta(3) and alpha(V)beta(5) integrins and promotes cell motility., [RefSeq, PubMed]; Research progress of periostin and osteoporosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 160, "disease_count": 11, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1ALD8;B1ALD9;C0IMJ1;C0IMJ2;C0IMJ4;D2KRH7;F5H628;Q15064;Q29XZ0;Q3KPJ5;Q5VSY5;Q8IZF9", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0046872 metal ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0071307 cellular response to vitamin K;GO:0007155 cell adhesion;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 21.9, "record_id": "Q15063-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TBC4-1", "uniprot_id": [ { "id": "PRIC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TBC4", "type": "external" } ], "mass": 37551.0, "length": 344, "protein_name": "Prickle-like protein 4", "gene_name": "PRICKLE4", "organism": "Human", "refseq_name": "prickle-like protein 4", "refseq_ac": [ { "id": "NP_037529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037529", "type": "external" } ], "gene_names_uniprotkb": "PRICKLE4; C6orf49; OEBT", "gene_names_refseq": "C6orf49; OBTP; OEBT; PRICKLE4", "protein_names_uniprotkb": "Prickle-like protein 4; Overexpressed breast tumor protein", "protein_names_refseq": "over-expressed breast tumor protein; overexpressed breast tumor protein; overexpressed breast tumour protein; prickle homolog 4; prickle-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:29964)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;15702247;20877624", "class_list": "", "function": "C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]., [RefSeq]; Molecular characterization of OEBT, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A2A3M0;A6PVU1;B3KQ15;Q5T3D4;Q9NSV1", "ec_number_list": [], "go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005912 adherens junction;GO:0001725 stress fiber;GO:0030018 Z disc;GO:0031941 filamentous actin", "go_biological_process": "GO:0007507 heart development;GO:0030036 actin cytoskeleton organization;GO:0061061 muscle structure development", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q2TBC4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SGD2-1", "uniprot_id": [ { "id": "PPM1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SGD2", "type": "external" } ], "mass": 41053.0, "length": 360, "protein_name": "Protein phosphatase 1L", "gene_name": "PPM1L", "organism": "Human", "refseq_name": "protein phosphatase 1L isoform 2", "refseq_ac": [ { "id": "NP_001304840", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304840", "type": "external" } ], "gene_names_uniprotkb": "PPM1L; PP2CE", "gene_names_refseq": "PP2C-epsilon; PP2CE; PPM1-LIKE; PPM1L", "protein_names_uniprotkb": "Protein phosphatase 1L; 3.1.3.16; PP2C-epsilon; Protein phosphatase 1-like; Protein phosphatase 2C isoform epsilon", "protein_names_refseq": "PP2C epsilon; protein phosphatase 1L isoform 2; protein phosphatase 1L", "tax_id": 9606, "disease": "", "pathway": " (hsa:151742); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;10722674;10751414;10802064;10947957;11937514;14685229;14685263;14976195;15063729;15328338;15337768;15560375;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17456047;17591919;17982138;18165232;18165233;18184806;19005213;19233134;19416851;19506037;19847890;20061445;20110355;20182505;21620961;22517924;22796112;22970244;23180825;23602659;23754960;24190977;24569996;24715725;24782409;25788259;26768311;28228285;28575652;28832583;28834231;29242379;29393594;29557506;29563527;31530632;31844290;31895563;32350084;32357974;32488085;32897882;32938616;33936100;33968037;35051231;35251023;35409383;36902339;36907437;37217939;37224812;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "Acts as a suppressor of the SAPK signaling pathways by associating with and dephosphorylating MAP3K7/TAK1 and MAP3K5, and by attenuating the association between MAP3K7/TAK1 and MAP2K4 or MAP2K6., [UniProtKB, PubMed]; CERT is a physiological substrate of PP2Cepsilon and that dephosphorylation of CERT by PP2Cepsilon may play an important role in the regulation of ceramide trafficking from the ER to the Golgi apparatus., [RefSeq, PubMed]; Cloning and characterization of a novel human protein phosphatase 2C cDNA (PP2C epsilon*), [RefSeq, PubMed]; Genetic variation at chromosome 3 harbors an element that regulates expression of an upstream candidate tumor suppressor, PPM1L, thus providing a novel mechanism for colorectal tumorigenesis., [RefSeq, PubMed]; Identified ACBD3 as an interacting partner of PPM1L, and showed that this association, which recruits PPM1L to ER-Golgi membrane contact sites, is mediated by a GOLD (Golgi dynamics) domain in ACBD3, [RefSeq, PubMed]; The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; These results suggest that PP2Cepsilon maintains ASK1 in an inactive state by dephosphorylation in quiescent cells, supporting the possibility that PP2Cepsilon and PP5 play different roles in H2O2-induced regulation of ASK1 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "Q2M3J2;Q96NM7", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0030148 sphingolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q5SGD2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SWA1-1", "uniprot_id": [ { "id": "PR15B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SWA1", "type": "external" } ], "mass": 79125.0, "length": 713, "protein_name": "Protein phosphatase 1 regulatory subunit 15B", "gene_name": "PPP1R15B", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 15B", "refseq_ac": [ { "id": "NP_116222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116222", "type": "external" } ], "gene_names_uniprotkb": "PPP1R15B", "gene_names_refseq": "CREP; MSSGM2; PPP1R15B", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 15B", "protein_names_refseq": "protein phosphatase 1 regulatory subunit 15B; protein phosphatase 1, regulatory (inhibitor) subunit 15B", "tax_id": 9606, "disease": "microcephaly, short stature, and impaired glucose metabolism 2 (MONDO:MONDO:0014785)", "pathway": " (hsa:84919)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;15705855;21993680;22915583;23186163;23481700;25418920;25576301;25645385;25892735;26159176;26307080;26375851;28218747;28228285;28493397;28514659;28832583;28834231;29242379;29393594;29508533;29632046;29769354;29786170;30315122;30379171;30779550;30833945;31154438;31530632;31848261;31937595;32161166;34847777;36930084;38139150;38159565", "class_list": "", "function": "An integrative pan-cancer analysis illustrating the key role of LRP11 in cervical cancer., [RefSeq, PubMed]; Maintains low levels of EIF2S1 phosphorylation in unstressed cells by promoting its dephosphorylation by PP1., [UniProtKB, PubMed, PubMed]; Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B., [RefSeq, PubMed]; Substrate recognition determinants of human eIF2alpha phosphatases., [RefSeq, PubMed]; The PPP1R15 Family of eIF2-alpha Phosphatase Targeting Subunits (GADD34 and CReP). Review article Publication Status: Online-Only, [RefSeq, PubMed]; The mammalian traffic machinery co-opts p-eIF2alpha and CReP, regulators of translation initiation., [RefSeq, PubMed]; This gene encodes a protein phosphatase I-interacting protein that promotes the dephosphorylation of eukaryotic translation initiation factor 2A to regulate translation under conditions of cellular stress. The transcribed messenger RNA contains two upstream open reading frames (ORFs) that repress translation of the main protein coding ORF under normal conditions, while the protein coding ORF is expressed at high levels in response to stress. Continual translation of the mRNA under conditions of eukaryotic translation initiation factor 2A inactivation is thought to create a feedback loop for reactivation of the gene during recovery from stress. In addition, it has been shown that this protein plays a role in membrane traffic that is independent of translation and that it is required for exocytosis from erythroleukemia cells. Allelic variants of this gene are associated with microcephaly, short stature, and impaired glucose metabolism. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "Q53GQ4;Q658M2;Q6P156;Q96SN1", "ec_number_list": [], "go_molecular_function": "GO:0071074 eukaryotic initiation factor eIF2 binding;GO:0060090 molecular adaptor activity;GO:0019888 protein phosphatase regulator activity;GO:0008157 protein phosphatase 1 binding", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006417 regulation of translation;GO:0001933 negative regulation of protein phosphorylation;GO:0034976 response to endoplasmic reticulum stress;GO:1903898 negative regulation of PERK-mediated unfolded protein response;GO:0051246 regulation of protein metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q5SWA1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBV1-1", "uniprot_id": [ { "id": "POPD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBV1", "type": "external" } ], "mass": 33870.0, "length": 291, "protein_name": "Popeye domain-containing protein 3", "gene_name": "POPDC3", "organism": "Human", "refseq_name": "popeye domain-containing protein 3", "refseq_ac": [ { "id": "NP_071756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071756", "type": "external" } ], "gene_names_uniprotkb": "POPDC3; POP3", "gene_names_refseq": "LGMDR26; POP3; POPDC3; bA355M14.1", "protein_names_uniprotkb": "Popeye domain-containing protein 3; Popeye protein 3", "protein_names_refseq": "popeye domain containing 3; popeye domain-containing protein 3; popeye protein 3", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 26 (Disease Ontology:DOID:0061131); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:64208)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10882522;11237011;19913121;20546612;31610034;32157095;33392160;33981976;34069715;35051231;35075722;36843357;37104941", "class_list": "", "function": "A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype., [RefSeq, PubMed]; Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26., [RefSeq, PubMed]; May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding. May play a role in the regulation of KCNK2/TREK-1-mediated current amplitude (PubMed:31610034)., [UniProtKB, UniProtKB, PubMed, 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]; Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis. Review article, [RefSeq, PubMed]; The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 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": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RA98;Q5T3Y8;Q8TBW6", "ec_number_list": [], "go_molecular_function": "GO:0030552 cAMP binding", "go_cellular_component": "GO:0016020 membrane;GO:0042383 sarcolemma", "go_biological_process": "GO:0007507 heart development;GO:0042391 regulation of membrane potential;GO:0051146 striated muscle cell differentiation;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9HBV1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5THK1-1", "uniprot_id": [ { "id": "PR14L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5THK1", "type": "external" } ], "mass": 237300.0, "length": 2151, "protein_name": "Protein PRR14L", "gene_name": "PRR14L", "organism": "Human", "refseq_name": "protein PRR14L", "refseq_ac": [ { "id": "NP_775837", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775837", "type": "external" } ], "gene_names_uniprotkb": "PRR14L; C22orf30", "gene_names_refseq": "C22orf30; PRR14L", "protein_names_uniprotkb": "Protein PRR14L; Proline rich 14-like protein", "protein_names_refseq": "proline rich 14-like protein; protein PRR14L", "tax_id": 9606, "disease": "", "pathway": " (hsa:253143)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11237011;17525332;18477386;18669648;18767875;19413330;22544926;23186163;23481700;24714562;24715725;25576301;25645385;25880248;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30484775;30524438;30573780;30833945;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34405274;34509645;34561969;34932366;35051231;35318648;35494241;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "We report for the first time the finding of loss of function PRR14L mutations in myeloid neoplasia and ARCH. Knockdown of PRR14L results in altered myeloid differentiation and cell growth in vitro and our data suggest that PRR14L may play a role in cell division., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5THK4;Q6ZNN1;Q6ZWH0;Q8IW74;Q9H5T4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q5THK1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TYX0-1", "uniprot_id": [ { "id": "PRAM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TYX0", "type": "external" } ], "mass": 54886.0, "length": 476, "protein_name": "PRAME family member 5", "gene_name": "PRAMEF5", "organism": "Human", "refseq_name": "PRAME family member 5", "refseq_ac": [ { "id": "NP_001013425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013425", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF5; PRAMEF23; PRAMEF5L", "gene_names_refseq": "PRAMEF23; PRAMEF5L; PRAMEF5", "protein_names_uniprotkb": "PRAME family member 5", "protein_names_refseq": "PRAME family member 23; PRAME family member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:343068)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "33633747;36240223", "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": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WWD0;A2BDD6;A4FU31;A6NMV5", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5TYX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWM4-1", "uniprot_id": [ { "id": "PRAM8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWM4", "type": "external" } ], "mass": 53655.0, "length": 474, "protein_name": "PRAME family member 8", "gene_name": "PRAMEF8", "organism": "Human", "refseq_name": "PRAME family member 8", "refseq_ac": [ { "id": "NP_001012276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012276", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF8; PRAMEF24", "gene_names_refseq": "PRAMEF24; PRAMEF8", "protein_names_uniprotkb": "PRAME family member 8", "protein_names_refseq": "PRAME family member 8; putative PRAME family member 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:391002)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "29557506;31530632;31844290;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NMC2;B7ZMI5", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VWM4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VXH5-1", "uniprot_id": [ { "id": "PRAM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VXH5", "type": "external" } ], "mass": 53627.0, "length": 474, "protein_name": "PRAME family member 7", "gene_name": "PRAMEF7", "organism": "Human", "refseq_name": "PRAME family member 7", "refseq_ac": [ { "id": "NP_001012277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012277", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF7", "gene_names_refseq": "PRAMEF7", "protein_names_uniprotkb": "PRAME family member 7", "protein_names_refseq": "PRAME family member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:441871)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "26992070;29242379;29393594;33592498;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A087X1I7;A0A0A6YYA1;B9EIP0", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VXH5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NWY9-1", "uniprot_id": [ { "id": "PR40B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NWY9", "type": "external" } ], "mass": 99358.0, "length": 871, "protein_name": "Pre-mRNA-processing factor 40 homolog B", "gene_name": "PRPF40B", "organism": "Human", "refseq_name": "pre-mRNA-processing factor 40 homolog B isoform 1", "refseq_ac": [ { "id": "NP_001026868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026868", "type": "external" } ], "gene_names_uniprotkb": "PRPF40B; HYPC", "gene_names_refseq": "HYPC; PRPF40B", "protein_names_uniprotkb": "Pre-mRNA-processing factor 40 homolog B; Huntingtin yeast partner C; Huntingtin-interacting protein C", "protein_names_refseq": "Huntingtin interacting protein C; PRP40 pre-mRNA processing factor 40 homolog B; huntingtin yeast partner C; pre-mRNA-processing factor 40 homolog B isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25766)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10958656;11237011;19608861;21406692;23186163;24275569;25576301;25605964;25645385;25755297;26992070;27397612;27600516;27846572;28832583;29493099;29508533;29557506;29789417;31088860;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34087483;34405274;35051231;35580925;36010968;36241641;9700202", "class_list": "", "function": "May be involved in pre-mRNA splicing., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Placing our data in a functional context, we also show that PRPF40B depletion increased Fas/CD95 receptor number and cell apoptosis, which suggests the ability of PRPF40B to alter the alternative splicing of key apoptotic genes to regulate cell survival, [RefSeq, PubMed]; Study characterizes the transcriptomic regulation of PRPF40B in K562 cells upon knockout (KO) and rescue with MDS mutations, to reveal a set of targets with weak splice sites and A-rich motifs. Importantly, PRPF40B KO up-regulated a hypoxia signature which, together with its low expression in AML, suggests a role of PRPF40B in myeloid leukemias., [RefSeq, PubMed]; This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "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": "O75401;Q6PI09;Q6ZWB3;Q8NCZ1;Q9H5G4;Q9NT95", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0016607 nuclear speck;GO:0016604 nuclear body;GO:0016363 nuclear matrix;GO:0071004 U2-type prespliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0045292 mRNA cis splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q6NWY9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PEZ8-1", "uniprot_id": [ { "id": "PONL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PEZ8", "type": "external" } ], "mass": 55880.0, "length": 505, "protein_name": "Podocan-like protein 1", "gene_name": "PODNL1", "organism": "Human", "refseq_name": "podocan-like protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001139726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139726", "type": "external" } ], "gene_names_uniprotkb": "PODNL1; SLRR5B", "gene_names_refseq": "PODNL1; SLRR5B", "protein_names_uniprotkb": "Podocan-like protein 1", "protein_names_refseq": "podocan-like protein 1 isoform 2 precursor; podocan-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79883)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;34830454;37217939", "class_list": "", "function": "PODNL1 Methylation Serves as a Prognostic Biomarker and Associates with Immune Cell Infiltration and Immune Checkpoint Blockade Response in Lower-Grade Glioma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z564;K7EPI2;Q9H5G9", "ec_number_list": [], "go_molecular_function": "GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6PEZ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6S5H5-3", "uniprot_id": [ { "id": "POTEG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6S5H5", "type": "external" } ], "mass": 57096.0, "length": 508, "protein_name": "POTE ankyrin domain family member G", "gene_name": "POTEG", "organism": "Human", "refseq_name": "POTE ankyrin domain family member G", "refseq_ac": [ { "id": "NP_001005356", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005356", "type": "external" } ], "gene_names_uniprotkb": "POTEG; A26C2; POTE14", "gene_names_refseq": "A26C2; ACTBL1; CT104.4; POTE-14; POTE14alpha; POTE14; POTE22; POTEG", "protein_names_uniprotkb": "POTE ankyrin domain family member G; ANKRD26-like family C member 2; POTE-14; Prostate, ovary, testis-expressed protein on chromosome 14", "protein_names_refseq": "ANKRD26-like family C member 2; POTE ankyrin domain family member G; cancer/testis antigen family 104, member 4; prostate, ovary, testis-expressed protein on chromosome 14; protein expressed in prostate, ovary, testis, and placenta 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:404785)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15276201;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": 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": "A1L153;A6NMI9;Q6S5H6;Q6S8J2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6S5H5-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6S8J3-1", "uniprot_id": [ { "id": "POTEE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6S8J3", "type": "external" } ], "mass": 121363.0, "length": 1075, "protein_name": "POTE ankyrin domain family member E", "gene_name": "POTEE", "organism": "Human", "refseq_name": "POTE ankyrin domain family member E", "refseq_ac": [ { "id": "NP_001077007", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077007", "type": "external" } ], "gene_names_uniprotkb": "POTEE; A26C1A; POTE2", "gene_names_refseq": "A26C1A; A26C1; CT104.2; POTE-2; POTE2gamma; POTE2; POTEE", "protein_names_uniprotkb": "POTE ankyrin domain family member E; ANKRD26-like family C member 1A; POTE-2; Prostate, ovary, testis-expressed protein on chromosome 2", "protein_names_refseq": "ANKRD26-like family C member 1A; POTE ankyrin domain family member E; cancer/testis antigen family 104, member 2; prostate, ovary, testis-expressed protein on chromosome 2; protein expressed in prostate, ovary, testis, and placenta 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:445582); (R-HSA-9035034)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;15276201;16777452;17765681;18447647;20068231;20233848;21119010;23096567;23328677;23783831;24958902;25668492;27278019;27452731;27481945;27600516;28228285;28514659;28832583;29242379;29351928;29393594;29508533;29557506;29632711;29786170;29789417;30315122;30397120;30420269;31723122;31844290;31871319;32142855;32157095;32387766;32502341;32589786;33968037;33981976;34357683;35008409;35051231;37217939", "class_list": "", "function": "In TAMs, POTEE was involved differential protein-protein interaction with mTOR, RICTOR, and Rad51 indicating its biological role in cell invasion through mTORC2 activation., [RefSeq, PubMed]; POTEE drives colorectal cancer development via regulating SPHK1/p65 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; POTEE promotes colorectal carcinoma progression via activating the Rac1/Cdc42 pathway. Erratum:[Exp Cell Res. 2021 Oct 15;407(2):112836. doi: 10.1016/j.yexcr.2021.112836. PMID: 34565520], [RefSeq, PubMed]; POTEE stimulates the proliferation of pancreatic cancer by activating the PI3K/Akt/GSK-3beta/beta-catenin signaling., [RefSeq, PubMed]; The POTE paralogs that are expressed in ES cells may have a specific function during lineage-specific differentiation of 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": 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": 54, "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": "Q6S8J4;Q6S8J5;Q6S8J8", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0098973 structural constituent of postsynaptic actin cytoskeleton", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0021762 substantia nigra development;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q6S8J3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6S8J7-1", "uniprot_id": [ { "id": "POTEA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6S8J7", "type": "external" } ], "mass": 56166.0, "length": 498, "protein_name": "POTE ankyrin domain family member A", "gene_name": "POTEA", "organism": "Human", "refseq_name": "POTE ankyrin domain family member A isoform 1", "refseq_ac": [ { "id": "NP_001002920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002920", "type": "external" } ], "gene_names_uniprotkb": "POTEA; A26A1; POTE8", "gene_names_refseq": "A26A1; CT104.3; POTE-8; POTE8; POTEA", "protein_names_uniprotkb": "POTE ankyrin domain family member A; ANKRD26-like family A member 1; POTE-8; Prostate, ovary, testis-expressed protein on chromosome 8", "protein_names_refseq": "ANKRD26-like family A, member 1; POTE ankyrin domain family member A isoform 1; POTE ankyrin domain family, member A; cancer/testis antigen family 104, member 3; prostate, ovary, testis-expressed protein on chromosome 8; protein expressed in prostate, ovary, testis, and placenta 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:340441)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "15276201;19413330;29557506;31844290;32983136;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": 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": "A6ND17;A6ND71;Q6S8J6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6S8J7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMI0-1", "uniprot_id": [ { "id": "PPR21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMI0", "type": "external" } ], "mass": 88314.0, "length": 780, "protein_name": "Protein phosphatase 1 regulatory subunit 21", "gene_name": "PPP1R21", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 21 isoform 1", "refseq_ac": [ { "id": "NP_001129101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129101", "type": "external" } ], "gene_names_uniprotkb": "PPP1R21; CCDC128; FERRY2; KLRAQ1", "gene_names_refseq": "CCDC128; FERRY2; Fy-2; KLRAQ1; NEDHFBA; PPP1R21", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 21; Coiled-coil domain-containing protein 128; Ferry endosomal RAB5 effector complex subunit 2; Fy-2; KLRAQ motif-containing protein 1", "protein_names_refseq": "KLRAQ motif containing 1; KLRAQ motif-containing protein 1; coiled-coil domain containing 128; coiled-coil domain-containing protein 128; ferry endosomal RAB5 effector complex subunit 2; protein phosphatase 1 regulatory subunit 21 isoform 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (MONDO:MONDO:0859165)", "pathway": " (hsa:129285)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;19389623;23481700;24714562;24715725;25418920;25576301;25645385;26154972;26375851;26811146;26992070;27397612;27846572;27862975;27920218;28063628;28218747;28649982;28832583;28834231;28904123;28940097;29242379;29288388;29437277;29493099;29557506;29632046;29671580;29786170;29808498;30429286;30520571;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;32985083;33298915;33592498;33717175;33912179;33968037;34171305;34185709;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36692708;37267905;37267906;37938771;38356149", "class_list": "", "function": "A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Erratum:[Mol Neurobiol. 2023 Jul;60(7):4164. doi: 10.1007/s12035-023-03319-6. PMID: 36941504], [RefSeq, PubMed]; Although PPP1R21 has not yet been linked to human disease, the consistency in the phenotype of individuals from unrelated families, the nature of the variants which result in truncated proteins, and the expected vital role for PPP1R21 in cellular function, all support that PPP1R21 is a novel disease-associated gene responsible for the phenotype observed in these individuals, [RefSeq, PubMed]; Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905, PubMed:37267906). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905). In the complex, PPP1R21 serves as a binding hub connecting all five complex subunits and mediating the binding to mRNA and early endosomes via RAB5A (PubMed:37267906). Putative regulator of protein phosphatase 1 (PP1) activity (PubMed:19389623). May play a role in the endosomal sorting process or in endosome maturation pathway (Probable) (PubMed:30520571)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Expanding the phenotype of PPP1R21-related neurodevelopmental disorder., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 20, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKY5;B7ZKY7;E1B6W7;Q2TA78;Q6ZMI6;Q8IW83;Q8J029;Q96ES8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005769 early endosome;GO:0016020 membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:1904580 regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q6ZMI0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRP0-1", "uniprot_id": [ { "id": "PR23C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRP0", "type": "external" } ], "mass": 27805.0, "length": 262, "protein_name": "Proline-rich protein 23C", "gene_name": "PRR23C", "organism": "Human", "refseq_name": "proline-rich protein 23C", "refseq_ac": [ { "id": "NP_001128129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128129", "type": "external" } ], "gene_names_uniprotkb": "PRR23C", "gene_names_refseq": "PRR23C", "protein_names_uniprotkb": "Proline-rich protein 23C", "protein_names_refseq": "proline-rich protein 23A; proline-rich protein 23C", "tax_id": 9606, "disease": "", "pathway": " (hsa:389152)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZRP0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRT6-1", "uniprot_id": [ { "id": "PR23B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRT6", "type": "external" } ], "mass": 28269.0, "length": 265, "protein_name": "Proline-rich protein 23B", "gene_name": "PRR23B", "organism": "Human", "refseq_name": "proline-rich protein 23B", "refseq_ac": [ { "id": "NP_001013672", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013672", "type": "external" } ], "gene_names_uniprotkb": "PRR23B", "gene_names_refseq": "PRR23B", "protein_names_uniprotkb": "Proline-rich protein 23B", "protein_names_refseq": "proline-rich protein 23B", "tax_id": 9606, "disease": "", "pathway": " (hsa:389151)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RNV9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZRT6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N755-1", "uniprot_id": [ { "id": "S66A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N755", "type": "external" } ], "mass": 22575.0, "length": 202, "protein_name": "Solute carrier family 66 member 3", "gene_name": "SLC66A3", "organism": "Human", "refseq_name": "solute carrier family 66 member 3 isoform b", "refseq_ac": [ { "id": "NP_001269639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269639", "type": "external" } ], "gene_names_uniprotkb": "SLC66A3; C2orf22; PQLC3", "gene_names_refseq": "C2orf22; PQLC3; SLC66A3", "protein_names_uniprotkb": "Solute carrier family 66 member 3; PQ-loop repeat-containing protein 3", "protein_names_refseq": "PQ loop repeat containing 3; PQ-loop repeat-containing protein 3; solute carrier family 66 member 3 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:130814)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25892735;28218747;28832583;28904123;29437277;29557506;29769354;30779550;32357974;36284347;36581221", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2R8K1;B4DWA4", "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": "Q8N755-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N945-1", "uniprot_id": [ { "id": "PRLD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N945", "type": "external" } ], "mass": 21905.0, "length": 189, "protein_name": "PRELI domain-containing protein 2", "gene_name": "PRELID2", "organism": "Human", "refseq_name": "PRELI domain-containing protein 2 isoform c", "refseq_ac": [ { "id": "NP_612501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612501", "type": "external" } ], "gene_names_uniprotkb": "PRELID2", "gene_names_refseq": "PRELID2", "protein_names_uniprotkb": "PRELI domain-containing protein 2", "protein_names_refseq": "CTC-806A22.1; PRELI domain-containing protein 2 isoform c; PRELI domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:153768)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;18160138;20112406;20877624;25576301;26992070;29393594;29557506;32157095;32387766;33592498;35580925;38730434", "class_list": "", "function": "CircPRELID2 functions as a promoter of renal cell carcinoma through the miR-22-3p/ETV1 cascade. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "G5EA01;Q96EQ3", "ec_number_list": [], "go_molecular_function": "GO:1990050 phosphatidic acid transfer activity", "go_cellular_component": "GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8N945-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCQ7-1", "uniprot_id": [ { "id": "PRCA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCQ7", "type": "external" } ], "mass": 40506.0, "length": 364, "protein_name": "Protein PROCA1", "gene_name": "PROCA1", "organism": "Human", "refseq_name": "protein PROCA1 isoform a", "refseq_ac": [ { "id": "NP_001291878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291878", "type": "external" } ], "gene_names_uniprotkb": "PROCA1", "gene_names_refseq": "PROCA1", "protein_names_uniprotkb": "Protein PROCA1; Protein interacting with cyclin A1", "protein_names_refseq": "proline-rich cyclin A1-interacting protein; protein PROCA1 isoform a; protein PROCA1", "tax_id": 9606, "disease": "", "pathway": " (hsa:147011)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;15159402;31848261", "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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DX95;G5E9R8;Q6PKN3", "ec_number_list": [], "go_molecular_function": "GO:0004623 phospholipase A2 activity;GO:0030332 cyclin binding", "go_cellular_component": "", "go_biological_process": "GO:0050482 arachidonate secretion;GO:0006644 phospholipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NCQ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE79-1", "uniprot_id": [ { "id": "POPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE79", "type": "external" } ], "mass": 41451.0, "length": 360, "protein_name": "Popeye domain-containing protein 1", "gene_name": "POPDC1", "organism": "Human", "refseq_name": "popeye domain-containing protein 1", "refseq_ac": [ { "id": "NP_001186492", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186492", "type": "external" } ], "gene_names_uniprotkb": "POPDC1; BVES; POP1", "gene_names_refseq": "BVES; CARICK; HBVES; LGMD2X; LGMDR25; POP1; POPDC1", "protein_names_uniprotkb": "Popeye domain-containing protein 1; Popeye protein 1", "protein_names_refseq": "blood vessel epicardial substance; popeye domain-containing protein 1", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 2X (Disease Ontology:DOID:0110290); tetralogy of Fallot (Disease Ontology:DOID:6419)", "pathway": " (hsa:11149)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10.1101/2023.09.13.557529;10441744;10882522;16188940;18349282;24715725;25576301;25892735;26642364;28832583;30429286;31844290;31848261;32265295;32387766;32938616;33261556;34069715;35660068;36155908;36241641;36624536;40596516", "class_list": "", "function": "A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25., [RefSeq, PubMed]; An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. Publication Status: Online-Only, [RefSeq, PubMed]; Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:26642364). Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Erratum:[Acta Neuropathol Commun. 2023 Jul 11;11(1):114. doi: 10.1186/s40478-023-01591-0. PMID: 37434226] Publication Status: Online-Only, [RefSeq, PubMed]; Methylation of BVES was present in 80% of NSCLC tissues but only 14% of noncancerous tissues., [RefSeq, PubMed]; Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)., [RefSeq, PubMed]; The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves POPDC1 and POPDC3 Downregulation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K1R4;E1P5D8;Q5T550;Q5T551;Q8IWC6;Q9HBV0;Q9UNG6", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0030552 cAMP binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0030054 cell junction;GO:0005901 caveola", "go_biological_process": "GO:0002931 response to ischemia;GO:0007507 heart development;GO:0042391 regulation of membrane potential;GO:0043087 regulation of GTPase activity;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NE79-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAE6-1", "uniprot_id": [ { "id": "PP14C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAE6", "type": "external" } ], "mass": 17843.0, "length": 165, "protein_name": "Protein phosphatase 1 regulatory subunit 14C", "gene_name": "PPP1R14C", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 14C", "refseq_ac": [ { "id": "NP_112211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112211", "type": "external" } ], "gene_names_uniprotkb": "PPP1R14C; KEPI", "gene_names_refseq": "CPI17-like; KEPI; NY-BR-81; PPP1R14C", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 14C; Kinase-enhanced PP1 inhibitor; PKC-potentiated PP1 inhibitory protein; Serologically defined breast cancer antigen NY-BR-81", "protein_names_refseq": "PKC-potentiated PP1 inhibitory protein; kinase C-enhanced PP1 inhibitor; kinase-enhanced PP1 inhibitor; protein phosphatase 1 regulatory subunit 14C; serologically defined breast cancer antigen NY-BR-81", "tax_id": 9606, "disease": "Coronavirus infectious disease (Disease Ontology:DOID:0080599)", "pathway": " (hsa:81706)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11812771;12747765;12804574;20592344;23186163;25576301;28486561;31154438;35031423;38359166", "class_list": "", "function": "Analysis of antibodies generated against the protein phosphatase 1 inhibitor KEPI and characterization of the epitope, [RefSeq, PubMed]; Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms., [RefSeq, PubMed]; Inhibitor of the PP1 regulatory subunit PPP1CA., [UniProtKB]; KEPI plays a negative role in the repression that accompanies translational inhibition guided by the uORF element of human CHOP transcript during stress response., [RefSeq, PubMed]; Regulation by morphine GeneRIF: PPP1R14C gene encodes a PKC-potentiated inhibitory protein, KEPI, for type-1 Ser/Thr protein phosphatase (PP1). KEPI mRNA and protein were enriched in brain, heart and skeletal muscle., [RefSeq, PubMed]; The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VY83;Q96BB1;Q9H277", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8TAE6-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QC0-1", "uniprot_id": [ { "id": "PP1RA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QC0", "type": "external" } ], "mass": 99058.0, "length": 940, "protein_name": "Serine/threonine-protein phosphatase 1 regulatory subunit 10", "gene_name": "PPP1R10", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 1 regulatory subunit 10", "refseq_ac": [ { "id": "NP_002705", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002705", "type": "external" } ], "gene_names_uniprotkb": "PPP1R10; CAT53; FB19; PNUTS", "gene_names_refseq": "CAT53; FB19; PNUTS; PP1R10; PPP1R10; R111; p99", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 1 regulatory subunit 10; MHC class I region proline-rich protein CAT53; PP1-binding protein of 114 kDa; Phosphatase 1 nuclear targeting subunit; p99", "protein_names_refseq": "HLA-C associated transcript 53; MHC class I region proline-rich protein CAT53; PP1-binding protein of 114 kDa; phosphatase 1 nuclear targeting subunit; protein phosphatase 1, regulatory (inhibitor) subunit 10; serine/threonine-protein phosphatase 1 regulatory subunit 10; testis tissue sperm-binding protein Li 67n", "tax_id": 9606, "disease": "", "pathway": " (hsa:5514); (R-HSA-9770562)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10669729;11060040;14749727;15037765;15565158;16964243;17081983;17128255;17924679;18288197;18360108;18452278;18669648;19217410;19413330;19415658;19608861;19651622;19664994;19664995;19691289;20068231;20166139;20695905;21295486;21406692;22813749;23186163;23481700;23874216;24076191;24129315;24149845;24275569;25301780;25301781;25576301;25645385;27920218;28096519;28218747;28228285;28832583;28904123;28911096;29186539;29242379;29274231;29393594;29437277;29493099;29557506;30139799;30158517;30257008;30315122;30429286;31154438;31217245;31677974;31844290;31848261;32006464;32157095;32357974;32488085;32816001;32938616;32983136;33264625;33298915;33691108;33912179;33968037;33981976;34019948;34171305;34932366;35051231;35139713;35177536;35254053;35580925;36010968;36284347;37217939;38253038;38665916;39302247;39446389;39603239;39603240;40473212;40596516;9450550;9659921;9784381", "class_list": "", "function": "Alternatively-spliced lncRNA-PNUTS promotes HCC cell EMT via regulating ZEB1 expression., [RefSeq, PubMed]; Substrate-recognition 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:39603239, PubMed:39603240). Promoter-proximal pausing by RNA polymerase II is a transcription halt following transcription initiation but prior to elongation, which acts as a checkpoint to control that transcripts are favorably configured for transcriptional elongation (PubMed:39603239, PubMed:39603240). The PNUTS-PP1 complex mediates the release of RNA polymerase II from promoter-proximal region of genes by catalyzing dephosphorylation of proteins involved in transcription, such as AFF4, CDK9, MEPCE, INTS12, NCBP1, POLR2M/GDOWN1 and SUPT6H (PubMed:39603239, PubMed:39603240). The PNUTS-PP1 complex also regulates RNA polymerase II transcription termination by mediating dephosphorylation of SUPT5H in termination zones downstream of poly(A) sites, thereby promoting deceleration of RNA polymerase II transcription (PubMed:31677974). PNUTS-PP1 complex is also involved in the response to replication stress by mediating dephosphorylation of POLR2A at 'Ser-5' of the CTD, promoting RNA polymerase II degradation (PubMed:33264625). The PNUTS-PP1 complex also plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (By similarity). PNUTS-PP1 complex mediates dephosphorylation of MYC, promoting MYC stability by preventing MYC ubiquitination by the SCF(FBXW7) complex (PubMed:30158517). In addition to acts as a substrate-recognition component, PPP1R10/PNUTS also acts as a nuclear targeting subunit for the PNUTS-PP1 complex (PubMed:9450550). In some context, PPP1R10/PNUTS also acts as an inhibitor of protein phosphatase 1 (PP1) activity by preventing access to substrates, such as RB (PubMed:18360108)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 12, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O00405", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0019888 protein phosphatase regulator activity;GO:0008157 protein phosphatase 1 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin;GO:0072357 PTW/PP1 phosphatase complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0010667 negative regulation of cardiac muscle cell apoptotic process;GO:2000806 positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled;GO:0001111 RNA polymerase II promoter clearance;GO:0032968 positive regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q96QC0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2H8-1", "uniprot_id": [ { "id": "PPIL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2H8", "type": "external" } ], "mass": 18155.0, "length": 161, "protein_name": "Peptidyl-prolyl cis-trans isomerase-like 3", "gene_name": "PPIL3", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase-like 3 isoform PPIL3a", "refseq_ac": [ { "id": "NP_115861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115861", "type": "external" } ], "gene_names_uniprotkb": "PPIL3", "gene_names_refseq": "CYPJ; PPIL3", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase-like 3; 5.2.1.8; CyPJ; Cyclophilin J; Cyclophilin-like protein PPIL3; PPIase; Rotamase PPIL3", "protein_names_refseq": "PPIase-like protein 3; cyclophilin J; cyclophilin-like protein 3; cyclophilin-like protein PPIL3; peptidyl-prolyl cis-trans isomerase-like 3 isoform PPIL3a; peptidyl-prolyl cis-trans isomerase-like 3; peptidylprolyl cis-trans isomerase-like protein 3; peptidylprolyl isomerase (cyclophilin)-like 3; rotamase PPIL3", "tax_id": 9606, "disease": "", "pathway": " (hsa:53938); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 126, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11435694;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;15735342;15989758;16314458;16510998;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20423332;20980672;21536652;2176635;21911577;22110043;22223895;22365833;22959432;22961380;23222130;23236153;23345524;23481700;24196718;24304693;24448447;24737827;24914973;25555158;2558966;26092250;26375851;26385511;26420826;26969736;26977013;27108190;27377154;27459055;27683217;28062851;28076346;28228285;28502770;28649982;28739742;28781166;28832583;29242379;29301961;29360106;29361316;29557506;29632711;2963332;29786170;29902443;30315122;30315277;30599162;30705154;30728453;30765414;30975767;31217245;31409651;31530632;31844290;31848261;31937595;32179686;32329775;32350084;32387766;32494006;32502341;32938616;33141586;33177556;33243851;33392160;33446560;33592498;33936100;33968037;34019948;34301950;34357683;34509645;34561969;34822310;35051231;35215846;35385551;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "CYPJ structurally resembles CYPA. It is sensitive to inhibition by CsA and plays a role in regulating cell growth, proliferation, and apoptosis., [RefSeq, PubMed]; Cyclophilin J expression was up-regulated in gastric carcinoma compared to normal gastric tissues., [RefSeq, PubMed]; Human cyclophilin J, a new member of the cyclophilin family, has been expressed and crystallized., [RefSeq, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The novel full-length gene of human PPIL3 may be correlated with the formation of human glioma., [RefSeq, PubMed]; This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86WF9;Q96IA9;Q9BXZ1", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0006457 protein folding;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9H2H8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4Q4-1", "uniprot_id": [ { "id": "PRD12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4Q4", "type": "external" } ], "mass": 40403.0, "length": 367, "protein_name": "PR domain zinc finger protein 12", "gene_name": "PRDM12", "organism": "Human", "refseq_name": "PR domain zinc finger protein 12", "refseq_ac": [ { "id": "NP_067632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067632", "type": "external" } ], "gene_names_uniprotkb": "PRDM12; PFM9", "gene_names_refseq": "HSAN8; PFM9; PRDM12", "protein_names_uniprotkb": "PR domain zinc finger protein 12; PR domain-containing protein 12", "protein_names_refseq": "PR domain containing 12; PR domain zinc finger protein 12", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy type 8 (Disease Ontology:DOID:0070153)", "pathway": " (hsa:59335)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;14523459;26005867;26992070;29242379;29949203;30379171;30429286;32897882;32938616;33968037;34769459;35051231;35561310;36010968;36111846", "class_list": "", "function": "Down-regulation of PRDM12 is associated with the pathogenesis of chronic myeloid leukaemia with derivative chromosome 9 deletion, [RefSeq, PubMed]; Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes., [RefSeq, PubMed]; PRDM12 in Health and Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Study in five further children, from four families, with facial lesions typical of midface toddler excoriation syndrome (MiTES) found autosomal recessive mutations in PRDM12 in four of five patients and extended the phenotypic spectrum of PRDM12 mutations, which usually cause hereditary sensory and autonomic neuropathy type VIII, characterized by mutilating self-inflicted wounds of the extremities, lips and tongue., [RefSeq, PubMed]; This gene encodes a transcriptional regulator of sensory neuronal specification that plays a critical role in pain perception. The encoded protein contains an N-terminal PRDI-BF1 and RIZ homology (PR) domain, a SET domain, and three C-terminal C2H2 zinc finger DNA-binding domains. Naturally occurring mutations in this gene are associated with congenital insensitivity to pain (CIP), and hereditary sensory and autonomic neuropathies (HSAN's) affecting peripheral sensory and autonomic neurons. Deregulation of this gene is associated with solid cancers and hematological malignancies including chronic myeloid leukaemia. [provided by RefSeq, Mar 2017]., [RefSeq]; Transcriptional regulator necessary for the development of nociceptive neurons, playing a key role in determining the nociceptive lineage from neural crest cell progenitors. Initiates neurogenesis and activates downstream pro-neuronal transcription factors, such as NEUROD1, BRN3A, and ISL1, specifically within nociceptive neurons, while repressing non-nociceptor cell fates. Essential for the proper function of nociceptors in adults, influencing both their excitability and their gene expression, thereby impacting how these neurons respond to various pain stimuli., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A3KFK9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990226 histone methyltransferase 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:0031175 neuron projection development;GO:0019233 sensory perception of pain;GO:0050965 detection of temperature stimulus involved in sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9H4Q4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBU9-1", "uniprot_id": [ { "id": "POPD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBU9", "type": "external" } ], "mass": 40448.0, "length": 364, "protein_name": "Popeye domain-containing protein 2", "gene_name": "POPDC2", "organism": "Human", "refseq_name": "popeye domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001295262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295262", "type": "external" } ], "gene_names_uniprotkb": "POPDC2; POP2", "gene_names_refseq": "CCCM2; POP2; POPDC2", "protein_names_uniprotkb": "Popeye domain-containing protein 2; Popeye protein 2", "protein_names_refseq": "popeye domain containing 2; popeye domain-containing protein 2 isoform 2; popeye domain-containing protein 2; popeye protein 2", "tax_id": 9606, "disease": "cardiac conduction disease with or without cardiomyopathy 2 (MONDO:MONDO:0700389)", "pathway": " (hsa:64091)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10882522;11237011;19562805;24715725;26642364;28510447;28939104;32535041;33261556;36624536;37938771;40409267", "class_list": "", "function": "An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. Publication Status: Online-Only, [RefSeq, PubMed]; Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Erratum:[Acta Neuropathol Commun. 2023 Jul 11;11(1):114. doi: 10.1186/s40478-023-01591-0. PMID: 37434226] Publication Status: Online-Only, [RefSeq, PubMed]; Important for the maintenance of cardiac function (PubMed:40409267). Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:40409267)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; POPDC2 a novel susceptibility gene for conduction disorders., [RefSeq, PubMed]; Recently a novel family of cAMP effector proteins emerged and was termed the Popeye domain containing (POPDC) family, which consists of three members POPDC1, POPDC2 and POPDC3. POPDC proteins are transmembrane proteins, which are abundantly present in striated and smooth muscle cells. POPDC proteins bind cAMP with high affinity comparable to PKA Review article, [RefSeq, PubMed]; This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 1, "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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q86UE7", "ec_number_list": [], "go_molecular_function": "GO:0030552 cAMP binding", "go_cellular_component": "GO:0016020 membrane;GO:0042383 sarcolemma", "go_biological_process": "GO:0007507 heart development;GO:0042391 regulation of membrane potential;GO:0051146 striated muscle cell differentiation;GO:0002027 regulation of heart rate;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9HBU9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQV5-1", "uniprot_id": [ { "id": "PRD11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQV5", "type": "external" } ], "mass": 57863.0, "length": 511, "protein_name": "PR domain-containing protein 11", "gene_name": "PRDM11", "organism": "Human", "refseq_name": "PR domain-containing protein 11 isoform 2", "refseq_ac": [ { "id": "NP_001243625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243625", "type": "external" } ], "gene_names_uniprotkb": "PRDM11; PFM8", "gene_names_refseq": "PFM8; PRDM11", "protein_names_uniprotkb": "PR domain-containing protein 11; 2.1.1.-", "protein_names_refseq": "PR domain-containing protein 11 isoform 2; PR-domain containing protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:56981)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;18669648;24929828;25218447;25499759;25576301;28218747;28832583;29437277;31848261;35580925", "class_list": "", "function": "May be involved in transcription regulation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; We characterize PRDM11 as a putative novel tumor suppressor that controls the expression of key oncogenes, and we add new mechanistic insight into B-cell lymphomagenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8N9F1", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;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:0045893 positive regulation of DNA-templated transcription;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NQV5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1A2-1", "uniprot_id": [ { "id": "PP4RL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1A2", "type": "external" } ], "mass": 45908.0, "length": 415, "protein_name": "Putative serine/threonine-protein phosphatase 4 regulatory subunit 1-like", "gene_name": "PPP4R1L", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PPP4R1L; C20orf192; PRO1085", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative serine/threonine-protein phosphatase 4 regulatory subunit 1-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 14, "publication_id_list": "28904123;29437277;31217245;31844290;32561536;32938616;33717175;33912179;33968037;34561969;35051231;35580925;36010968;37938771", "class_list": "", "function": "May be a regulatory subunit of serine/threonine-protein phosphatase 4., [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": "B4DRM4;Q96LY6;Q9BZ17;Q9BZ18", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9P1A2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKY0-1", "uniprot_id": [ { "id": "PRND_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKY0", "type": "external" } ], "mass": 20293.0, "length": 176, "protein_name": "Prion-like protein doppel", "gene_name": "PRND", "organism": "Human", "refseq_name": "prion-like protein doppel preproprotein", "refseq_ac": [ { "id": "NP_036541", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036541", "type": "external" } ], "gene_names_uniprotkb": "PRND; DPL; PRO3443", "gene_names_refseq": "DOPPEL; DPL; PRND; PrPLP; dJ1068H6.4", "protein_names_uniprotkb": "Prion-like protein doppel; PrPLP; Prion protein 2", "protein_names_refseq": "downstream prion protein-like; prion gene complex, downstream; prion protein 2 (dublet); prion-like protein doppel preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23627); (R-HSA-163125)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10525406;10825657;11063595;11072085;11702213;12200435;12595265;12975309;15218028;20411530;20981146;22453181;2443973;26950422;30429286;30459171;3422494", "class_list": "", "function": "Expression pattern and biochemical characteristics in human tissues and in Chinese hamster ovary cells transfected with wild-type or variant human Dpl gene constructs, [RefSeq, PubMed]; In astrocytomas, Dpl undergoes different molecular processes that might constitute additional helpful tools to characterize the glial tumor progression, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for normal acrosome reaction and for normal male fertility (By similarity). Can bind Cu(2+) (PubMed:15218028, PubMed:20411530)., [UniProtKB, UniProtKB, PubMed, PubMed]; Results demonstrate that blocking doppel can control VEGF signaling in TECs and selectively inhibit tumor angiogenesis., [RefSeq, PubMed]; The association between the APOE, CYP46, PRNP and PRND genes and the profile of neuropsychiatric symptoms in Polish subjects with Alzheimer's disease and mild cognitive impairment, was evaluated., [RefSeq, PubMed]; This gene is found on chromosome 20, approximately 20 kbp downstream of the gene encoding cellular prion protein, to which it is biochemically and structurally similar. The protein encoded by this gene is a membrane glycosylphosphatidylinositol-anchored glycoprotein that is found predominantly in testis. Mutations in this gene may lead to neurological disorders. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 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": 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": 0, "reported_glycation": 0, "reported_snv": 12, "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": "A7U7M5;Q9H311;Q9H312;Q9NTM4", "ec_number_list": [], "go_molecular_function": "GO:0005507 copper ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0007338 single fertilization;GO:0007340 acrosome reaction;GO:0071280 cellular response to copper ion", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9UKY0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y520-1", "uniprot_id": [ { "id": "PRC2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y520", "type": "external" } ], "mass": 316911.0, "length": 2896, "protein_name": "Protein PRRC2C", "gene_name": "PRRC2C", "organism": "Human", "refseq_name": "protein PRRC2C isoform 1", "refseq_ac": [ { "id": "NP_055987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055987", "type": "external" } ], "gene_names_uniprotkb": "PRRC2C; BAT2D1; BAT2L2; KIAA1096; XTP2", "gene_names_refseq": "BAT2-iso; BAT2D1; BAT2L2; PRRC2C; XTP2", "protein_names_uniprotkb": "Protein PRRC2C; BAT2 domain-containing protein 1; HBV X-transactivated gene 2 protein; HBV XAg-transactivated protein 2; HLA-B-associated transcript 2-like 2; Proline-rich and coiled-coil-containing protein 2C", "protein_names_refseq": "BAT2 domain containing 1; BAT2 domain-containing protein 1; HBV X-transactivated gene 2 protein; HBV XAg-transactivated protein 2; HBxAg transactivated protein 2; HLA-B-associated transcript 2-like 2; proline-rich and coiled-coil-containing protein 2C; protein BAT2-like 2; protein PRRC2C isoform 1; protein PRRC2C", "tax_id": 9606, "disease": "", "pathway": " (hsa:23215)", "pathway_count": 1, "publication_count": 175, "publication_id_list": "10.1074/mcp.M114.046862;11237011;12443540;15747776;16964243;17081983;17924679;18669648;18691976;19608861;19690332;20068230;20068231;20112406;20305658;21406692;21740066;22544926;22645359;22661428;22898188;23186163;23301498;23481700;24129315;24275569;24366607;24397554;24714562;24715725;25218447;25418920;25469497;25505266;25576301;25645385;25810538;25813380;25892735;26154972;26375851;26728094;26768311;26811146;26992070;27114449;27397612;27503676;27600516;27655845;27846572;27920218;28063628;28218747;28228285;28314751;28510447;28514659;28604694;28649982;28657654;28832583;28834231;28855257;28904123;29237092;29242379;29314611;29331515;29351928;29371260;29393594;29395067;29437277;29493099;29508533;29557506;29605689;29632046;29632711;29769354;29786170;29789417;30059200;30192525;30315122;30379171;30410026;30484775;30524438;30620550;30779550;30833945;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32870666;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;34433824;34509645;34561969;34725712;34846842;34925382;34931806;34932366;35051231;35132862;35138101;35251023;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37340703;37541260;37938771;38253038;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422;41350704", "class_list": "", "function": "10 genes were down-regulated following treatment of the T-ALL cells with 0.15 and 1.5 microg/mL of metal ores at 72 h, [RefSeq, PubMed]; Required for efficient formation of stress granules., [UniProtKB, PubMed]; The KIAA1096 gene is located at 1q23-24 with no overexpression or amplification in normal urothelium, but was significantly upregulated in 30% of tumors., [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": 104, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 104, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 104, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 108, "binding_glycan_count": 0, "secondary_ac_list": "Q05DM8;Q49A39;Q6PD54;Q9H2N2;Q9HA05;Q9NSM8;Q9NXL3;Q9UF29;Q9UPQ6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0002244 hematopoietic progenitor cell differentiation;GO:0034063 stress granule assembly", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "Q9Y520-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13522-1", "uniprot_id": [ { "id": "PPR1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13522", "type": "external" } ], "mass": 18939.0, "length": 171, "protein_name": "Protein phosphatase 1 regulatory subunit 1A", "gene_name": "PPP1R1A", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 1A", "refseq_ac": [ { "id": "NP_006732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006732", "type": "external" } ], "gene_names_uniprotkb": "PPP1R1A; IPP1", "gene_names_refseq": "I1; IPP1; PPP1R1A", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 1A; I-1; IPP-1; Protein phosphatase inhibitor 1", "protein_names_refseq": "I-1; IPP-1; protein phosphatase 1 regulatory subunit 1A; protein phosphatase inhibitor-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5502)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;11278334;11564868;15345721;16772299;17046826;17200417;17400554;17416610;18192322;19887526;20512582;24244723;24275569;29311589;31797701;33631146;36018458;38574885;8611507", "class_list": "", "function": "Exploring prognostic value and regulation network of PPP1R1A in hepatocellular carcinoma., [RefSeq, PubMed]; G147D PPI-1 can attenuate responses of cardiomyocytes to beta-adrenergic agonists by decreasing PLN phosphorylation and therefore may contribute to deteriorated function in heart failure., [RefSeq, PubMed]; HOXC-AS3 is aberrantly overexpressed in breast cancers especially the HER2+ type. High expression of HOXC-AS3 has a relationship with poor clinical outcomes of breast cancer. HOXC-AS3 regulates cell invasion and migration both in vitro and in vivo. Results demonstrated that miR-3922-5p was a direct target of HOXC-AS3, and PPP1R1A was a target of miR-3922-5p in breast cancer., [RefSeq, PubMed]; Inhibitor of protein-phosphatase 1. This protein may be important in hormonal control of glycogen metabolism. Hormones that elevate intracellular cAMP increase I-1 activity in many tissues. I-1 activation may impose cAMP control over proteins that are not directly phosphorylated by PKA. Following a rise in intracellular calcium, I-1 is inactivated by calcineurin (or PP2B). Does not inhibit type-2 phosphatases., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Multiple domains in I-1 target cellular PP1 complexes, and I-1 has a role as a cellular regulator of eIF2alpha phosphorylation, [RefSeq, PubMed]; The MafA-target gene PPP1R1A regulates GLP1R-mediated amplification of glucose-stimulated insulin secretion in beta-cells., [RefSeq, PubMed]; Unraveling the significance of PPP1R1A gene in pancreatic beta-cell function: A study in INS-1 cells and human pancreatic islets., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "Q6IB01;Q8TBJ2;Q8WWV2", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0005977 glycogen metabolic process;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q13522-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D0T7-1", "uniprot_id": [ { "id": "SIM30_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D0T7", "type": "external" } ], "mass": 6102.0, "length": 59, "protein_name": "Small integral membrane protein 30", "gene_name": "SMIM30", "organism": "Human", "refseq_name": "small integral membrane protein 30 precursor", "refseq_ac": [ { "id": "NP_001339616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001339616", "type": "external" } ], "gene_names_uniprotkb": "SMIM30; MAVI1", "gene_names_refseq": "LINC00998; MAVI1; SMIM30", "protein_names_uniprotkb": "Small integral membrane protein 30; Microprotein in antiviral immunity 1", "protein_names_refseq": "long intergenic non-protein coding RNA 998; microprotein in antiviral immunity 1; putative transmembrane protein LINC00998; small integral membrane protein 30 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:401397)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "27893789;28904123;29242379;32157095;32461121;32488085;32502341;32938616;33392160;34171305;36010968;36241641;36495128;37656786", "class_list": "", "function": "LINC00998-encoded micropeptide SMIM30 promotes the G1/S transition of cell cycle by regulating cytosolic calcium level., [RefSeq, PubMed]; Negatively regulates antiviral innate immune responses (PubMed:37656786). Disrupts the interaction of antiviral protein MAVS with innate immune receptor RIGI and inhibits MAVS aggregation, resulting in the repression of type I interferon signaling and innate immune responses (PubMed:37656786)., [UniProtKB, PubMed]; Peptide SMIM30 promotes HCC development by inducing SRC/YES1 membrane anchoring and MAPK pathway activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q32Q38", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0060339 negative regulation of type I interferon-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A4D0T7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHR9-1", "uniprot_id": [ { "id": "SMHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHR9", "type": "external" } ], "mass": 226374.0, "length": 2005, "protein_name": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1", "gene_name": "SMCHD1", "organism": "Human", "refseq_name": "structural maintenance of chromosomes flexible hinge domain-containing protein 1", "refseq_ac": [ { "id": "NP_056110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056110", "type": "external" } ], "gene_names_uniprotkb": "SMCHD1; KIAA0650", "gene_names_refseq": "BAMS; FSHD2; SMCHD1", "protein_names_uniprotkb": "Structural maintenance of chromosomes flexible hinge domain-containing protein 1; 3.6.1.-; SMC hinge domain-containing protein 1", "protein_names_refseq": "SMC hinge domain-containing protein 1; structural maintenance of chromosomes flexible hinge domain-containing protein 1", "tax_id": 9606, "disease": "facioscapulohumeral muscular dystrophy 2 (Disease Ontology:DOID:0111193); choanal atresia (Disease Ontology:DOID:9574); arhinia, choanal atresia, and microphthalmia (MONDO:MONDO:0011323)", "pathway": " (hsa:23347)", "pathway_count": 1, "publication_count": 119, "publication_id_list": "11237011;17924679;18991276;19608861;20068231;22424782;22544926;23143600;23186163;23301498;23481700;23542155;24075187;24128691;24366607;24714562;24715725;24790221;25218447;25256356;25294876;25370034;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26992070;27059856;27600516;27846572;27862975;27893789;27920218;28063628;28067909;28067911;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29748383;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30779550;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36944600;37217939;37334829;37380887;37938771;38809976;38994563;40596516", "class_list": "", "function": "DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis., [RefSeq, PubMed]; In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype., [RefSeq, PubMed]; Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant., [RefSeq, PubMed]; Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and chromosome X, probably by mediating the merge of chromatin compartments (By similarity). Plays a key role in chromosome X inactivation in females by promoting the spreading of heterochromatin (PubMed:23542155). Recruited to inactivated chromosome X by Xist RNA and acts by mediating the merge of chromatin compartments: promotes random chromatin interactions that span the boundaries of existing structures, leading to create a compartment-less architecture typical of inactivated chromosome X (By similarity). Required to facilitate Xist RNA spreading (By similarity). Also required for silencing of a subset of clustered autosomal loci in somatic cells, such as the DUX4 locus (PubMed:23143600). Has ATPase activity; may participate in structural manipulation of chromatin in an ATP-dependent manner as part of its role in gene expression regulation (PubMed:29748383). Also plays a role in DNA repair: localizes to sites of DNA double-strand breaks in response to DNA damage to promote the repair of DNA double-strand breaks (PubMed:24790221, PubMed:25294876). Acts by promoting non-homologous end joining (NHEJ) and inhibiting homologous recombination (HR) repair (PubMed:25294876)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SMCHD1 activates the expression of genes required for the expansion of human myoblasts., [RefSeq, PubMed]; SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. Publication Status: Online-Only, [RefSeq, PubMed]; The study identified SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of facioscapulohumeral muscular dystrophy type 2 and possibly other human diseases subject to epigenetic regulation., [RefSeq, PubMed]; This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "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": "O75141;Q6AHX6;Q6ZTQ8;Q9H6Q2;Q9UG39", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0016887 ATP hydrolysis activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0035861 site of double-strand break;GO:0001740 Barr body;GO:0031981 nuclear lumen", "go_biological_process": "GO:0043584 nose development;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:0006302 double-strand break repair;GO:0045739 positive regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "A6NHR9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NLE4-1", "uniprot_id": [ { "id": "SIM23_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NLE4", "type": "external" } ], "mass": 20025.0, "length": 172, "protein_name": "Small integral membrane protein 23", "gene_name": "SMIM23", "organism": "Human", "refseq_name": "small integral membrane protein 23", "refseq_ac": [ { "id": "NP_001276899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276899", "type": "external" } ], "gene_names_uniprotkb": "SMIM23; C5orf50", "gene_names_refseq": "C5orf50; SMIM23", "protein_names_uniprotkb": "Small integral membrane protein 23", "protein_names_refseq": "CTB-78H18.1; small integral membrane protein 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:644994)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NLE4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MWL6-1", "uniprot_id": [ { "id": "SNG2L_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MWL6", "type": "external" } ], "mass": 24647.0, "length": 223, "protein_name": "Putative synaptogyrin-2 like protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative synaptogyrin-2 like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "28228285;29393594;29789417;30315122;31844290;32350084;32357974;9760194", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031594 neuromuscular junction;GO:0030672 synaptic vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A8MWL6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIU6-1", "uniprot_id": [ { "id": "SIX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIU6", "type": "external" } ], "mass": 82933.0, "length": 781, "protein_name": "Homeobox protein SIX4", "gene_name": "SIX4", "organism": "Human", "refseq_name": "homeobox protein SIX4", "refseq_ac": [ { "id": "NP_059116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059116", "type": "external" } ], "gene_names_uniprotkb": "SIX4", "gene_names_refseq": "AREC3; SIX4", "protein_names_uniprotkb": "Homeobox protein SIX4; Sine oculis homeobox homolog 4", "protein_names_refseq": "homeobox protein SIX4; sine oculis homeobox homolog 4", "tax_id": 9606, "disease": "myotonic dystrophy type 1 (Disease Ontology:DOID:11722); branchiootorenal syndrome (Disease Ontology:DOID:14702)", "pathway": " (hsa:51804)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10640827;11237011;14966291;16959974;17525332;19651622;23301498;27821176;28832583;29242379;29557506;29786170;30059200;30379171;30620550;31492838;32157095;32387766;32574038;32938616;33046796;33214551;33481352;33968037;34019948;35051231;35132862;35138101;35254053;35561310;35616130;36010968;36215666;36241641;36601689;37340703;37541260;37656231;38665916;39302247;39531497;39534244;40136647;41350704", "class_list": "", "function": "IGF2BP3stabilized SIX4 promotes the proliferation, migration, invasion and tube formation of ovarian cancer cells., [RefSeq, PubMed]; Knockdown of SIX4 inhibits pancreatic cancer cells via apoptosis induction. Publication Status: Online-Only, [RefSeq, PubMed]; SIX4 and SIX6 were linked to the lymph node metastasis in NSCLC. Review article Publication Status: Online-Only, [RefSeq, PubMed]; SIX4 promotes hepatocellular carcinoma metastasis through upregulating YAP1 and c-MET., [RefSeq, PubMed]; SIX4 upregulates IDH1 and metabolic reprogramming to promote osteosarcoma progression., [RefSeq, PubMed]; This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]., [RefSeq]; Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a DNA sequence on these target genes and is involved in processes like cell differentiation, cell migration and cell survival. Transactivates gene expression by binding a 5'-[CAT]A[CT][CT][CTG]GA[GAT]-3' motif present in the Trex site and a 5'-TCA[AG][AG]TTNC-3' motif present in the MEF3 site of the muscle-specific genes enhancer. Acts cooperatively with EYA proteins to transactivate their target genes through interaction and nuclear translocation of EYA protein. Acts synergistically with SIX1 to regulate target genes involved in formation of various organs, including muscle, kidney, gonad, ganglia, olfactory epithelium and cranial skeleton. Plays a role in several important steps of muscle development. Controls the genesis of hypaxial myogenic progenitors in the dermomyotome by transactivating PAX3 and the delamination and migration of the hypaxial precursors from the ventral lip to the limb buds through the transactivation of PAX3, MET and LBX1. Controls myoblast determination by transactivating MYF5, MYOD1 and MYF6. Controls somitic differentiation in myocyte through MYOG transactivation. Plays a role in synaptogenesis and sarcomere organization by participating in myofiber specialization during embryogenesis by activating fast muscle program in the primary myotome resulting in an up-regulation of fast muscle genes, including ATP2A1, MYL1 and TNNT3. Simultaneously, is also able to activate inhibitors of slow muscle genes, such as SOX6, HRASLS, and HDAC4, thereby restricting the activation of the slow muscle genes. During muscle regeneration, negatively regulates differentiation of muscle satellite cells through down-regulation of MYOG expression. During kidney development regulates the early stages of metanephros development and ureteric bud formation through regulation of GDNF, SALL1, PAX8 and PAX2 expression. Plays a role in gonad development by regulating both testis determination and size determination. In gonadal sex determination, transactivates ZFPM2 by binding a MEF3 consensus sequence, resulting in SRY up-regulation. In gonadal size determination, transactivates NR5A1 by binding a MEF3 consensus sequence resulting in gonadal precursor cell formation regulation. During olfactory development mediates the specification and patterning of olfactory placode through fibroblast growth factor and BMP4 signaling pathways and also regulates epithelial cell proliferation during placode formation. Promotes survival of sensory neurons during early trigeminal gangliogenesis. In the developing dorsal root ganglia, up-regulates SLC12A2 transcription. Regulates early thymus/parathyroid organogenesis through regulation of GCM2 and FOXN1 expression. Forms gustatory papillae during development of the tongue. Also plays a role during embryonic cranial skeleton morphogenesis., [UniProtKB, UniProtKB]; Upregulation of SIX4 indicates poor clinical outcome and promotes tumor growth and cell metastasis in esophageal squamous cell carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "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": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q4QQH5;Q4V764", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0046661 male sex differentiation;GO:0050678 regulation of epithelial cell proliferation;GO:0061055 myotome development;GO:0061197 fungiform papilla morphogenesis;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9UIU6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61647-1", "uniprot_id": [ { "id": "SIA8F_HUMAN", "url": "https://www.uniprot.org/uniprot/P61647", "type": "external" } ], "mass": 44836.0, "length": 398, "protein_name": "Alpha-2,8-sialyltransferase 8F", "gene_name": "ST8SIA6", "organism": "Human", "refseq_name": "alpha-2,8-sialyltransferase 8F isoform 1", "refseq_ac": [ { "id": "NP_001004470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004470", "type": "external" } ], "gene_names_uniprotkb": "ST8SIA6; SIAT8F", "gene_names_refseq": "SIA8F; SIAT8-F; SIAT8F; ST8SIA-VI; ST8SIA6; ST8SiaVI", "protein_names_uniprotkb": "Alpha-2,8-sialyltransferase 8F; 2.4.99.-; SIAT8-F; ST8SiaVI; Sialyltransferase 8F; Sialyltransferase St8Sia VI", "protein_names_refseq": "ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 6; alpha-2,8-sialyltransferase 8F isoform 1; alpha-2,8-sialyltransferase 8F; sialyltransferase 8F (alpha-2, 8-sialyltransferase); sialyltransferase St8Sia VI", "tax_id": 9606, "disease": "", "pathway": " (hsa:338596); (R-HSA-4085001); (R-HSA-975577)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10206952;10330343;10334995;10395745;10405317;10431835;10504389;10536037;10570912;10581036;10700233;10742600;10749855;10766765;10861246;10947946;11062056;11237011;11279095;11421344;11425186;11528398;11530204;11588157;11602804;11751519;11901181;11916006;12097641;12177386;12235148;12473780;12603328;12668675;12743242;12765789;14962670;15136692;15213228;15501818;15576474;15939404;16147865;16237198;16434023;16857734;16924681;17006639;17021253;17123352;1714903;17488527;1756715;18632803;18931531;19403558;19797320;20117844;21081508;22692205;25418920;25576301;25855199;28832583;29242379;29557506;3136930;31611695;31844290;31848261;32157095;32350084;32983136;33037712;33337846;33722502;35051231;35251023;35390672;36635290;37074911;38253038;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9054414;9199191;9597550;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Alpha-2,8-sialyltransferase that prefers O-glycans to N-glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups., [UniProtKB, UniProtKB]; NK cells consistently expressed mRNA encoding ST8Sia VI, which creates alpha2,8-linked disialic acids on O-linked glycans of glycoproteins and NK cells variably expressed high levels of ST8Sia V mRNA required for GT3 expression., [RefSeq, PubMed]; Profiling of specific long non-coding RNA signatures identifies ST8SIA6-AS1 AS a novel target for breast cancer., [RefSeq, PubMed]; ST8SIA6 gene is involved in the development of multidrug resistance via PI3K/Akt pathway in chronic myeloid leukemia., [RefSeq, PubMed]; ST8SIA6-AS1 contributes to hepatocellular carcinoma progression by targeting miR-142-3p/HMGA1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; ST8SIA6-AS1 promotes the development of hepatocellular carcinoma cells through miR-338-3p/NONO Axis., [RefSeq, PubMed]; The Diagnostic Value of Serum ST8SIA6-AS1 as Biomarker in Hepatocellular Carcinoma., [RefSeq, PubMed]; The alpha2,8-sialyltransferase 6 (St8sia6) localizes in the ER and enhances the anchorage-independent cell growth in cancer., [RefSeq, PubMed]; This gene encodes a member of the glycosyltransferase 29 protein family. Members of this protein family synthesize sialylglycoconjugates. Sialylation may contribute to multidrug resistance in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 555, "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": "B0YJ97;B9EH72;Q5VZH4", "ec_number_list": [ { "id": "2.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.-", "type": "external" }, { "id": "2.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.-", "type": "external" }, { "id": "2.4.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.8", "type": "external" } ], "go_molecular_function": "GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0006493 protein O-linked glycosylation;GO:0009247 glycolipid biosynthetic process;GO:0009311 oligosaccharide metabolic process;GO:0009100 glycoprotein metabolic process", "synthesized_glycan_count": 21, "hit_score": 10.4, "record_id": "P61647-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "K7EJ46-3", "uniprot_id": [ { "id": "SIM22_HUMAN", "url": "https://www.uniprot.org/uniprot/K7EJ46", "type": "external" } ], "mass": 9249.0, "length": 83, "protein_name": "Small integral membrane protein 22", "gene_name": "SMIM22", "organism": "Human", "refseq_name": "small integral membrane protein 22 isoform 2", "refseq_ac": [ { "id": "NP_001240720", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240720", "type": "external" } ], "gene_names_uniprotkb": "SMIM22; CASIMO1", "gene_names_refseq": "CASIMO1; SMIM22", "protein_names_uniprotkb": "Small integral membrane protein 22; Cancer-associated small integral membrane open reading frame 1", "protein_names_refseq": "small integral membrane protein 22 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:440335)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "29765154", "class_list": "", "function": "May modulate lipid droplet formation throught interaction with SQLE., [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": "A0A1U9AC72;K7EIG5;K7EIH2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0005770 late endosome", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0032956 regulation of actin cytoskeleton organization;GO:0042127 regulation of cell population proliferation;GO:0140042 lipid droplet formation;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "K7EJ46-3", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DL12-1", "uniprot_id": [ { "id": "SIM17_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DL12", "type": "external" } ], "mass": 13332.0, "length": 118, "protein_name": "Small integral membrane protein 17", "gene_name": "SMIM17", "organism": "Human", "refseq_name": "small integral membrane protein 17", "refseq_ac": [ { "id": "NP_001180557", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180557", "type": "external" } ], "gene_names_uniprotkb": "SMIM17", "gene_names_refseq": "SMIM17", "protein_names_uniprotkb": "Small integral membrane protein 17", "protein_names_refseq": "small integral membrane protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:147670)", "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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DL12-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00570-1", "uniprot_id": [ { "id": "SOX1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00570", "type": "external" } ], "mass": 39023.0, "length": 391, "protein_name": "Transcription factor SOX-1", "gene_name": "SOX1", "organism": "Human", "refseq_name": "transcription factor SOX-1", "refseq_ac": [ { "id": "NP_005977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005977", "type": "external" } ], "gene_names_uniprotkb": "SOX1", "gene_names_refseq": "SOX1", "protein_names_uniprotkb": "Transcription factor SOX-1", "protein_names_refseq": "SRY (sex determining region Y)-box 1; SRY-box 1; SRY-related HMG-box gene 1; transcription factor SOX-1", "tax_id": 9606, "disease": "X-linked panhypopituitarism (Disease Ontology:DOID:0111779)", "pathway": " (hsa:6656); (R-HSA-9823739); (R-HSA-9832991)", "pathway_count": 3, "publication_count": 14, "publication_id_list": "20074535;27052315;29557506;31217245;31844290;33202879;33376722;34450126;35051231;35348963;35848993;36412431;9337405;9512512", "class_list": "", "function": "A similar protein directly regulates the gamma-crystallin genes and is essential for lens development in mice., [RefSeq, PubMed]; Discordant SOX-1 antibodies results in paraneoplastic Lambert-Eaton syndrome diagnosis by the clinical laboratory., [RefSeq, PubMed]; Is hypermethylation of SOX1 gene an independent prognostic marker in surgically resected non-small cell lung cancer?, [RefSeq, PubMed]; SOX1 and PAX1 Are Hypermethylated in Cervical Adenocarcinoma and Associated with Better Prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Study of the influence of NGF-beta gene overexpression in human mesenchymal stem cells on the expression level of SOX1 and neural pathway genes., [RefSeq, PubMed]; This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional Circuitry of NKX2-1 and SOX1 Defines an Unrecognized Lineage Subtype of Small-Cell Lung Cancer., [RefSeq, PubMed]; Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (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": 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": "Q5W0Q1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O00570-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02814-1", "uniprot_id": [ { "id": "SMR3B_HUMAN", "url": "https://www.uniprot.org/uniprot/P02814", "type": "external" } ], "mass": 8188.0, "length": 79, "protein_name": "Submaxillary gland androgen-regulated protein 3B", "gene_name": "SMR3B", "organism": "Human", "refseq_name": "submaxillary gland androgen-regulated protein 3B precursor", "refseq_ac": [ { "id": "NP_006676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006676", "type": "external" } ], "gene_names_uniprotkb": "SMR3B; PBII; PRL3; PROL3", "gene_names_refseq": "P-B; PBII; PRL3; PROL3; SMR1B; SMR3B", "protein_names_uniprotkb": "Submaxillary gland androgen-regulated protein 3B; Proline-rich peptide P-B; Proline-rich protein 3", "protein_names_refseq": "proline rich 3; proline-rich peptide P-B; proline-rich protein 3; salivary proline-rich protein; submaxillary gland androgen regulated protein 3 homolog B; submaxillary gland androgen-regulated protein 3B precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10879)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10731710;1747107;24715725;30429286;31154438;32161166;32983136;34817334;35995384;479131;7982889", "class_list": "", "function": "Androgen regulated protein and pyruvate dehydrogenase kinase 4 in severe erectile dysfunction: A gene expression analysis, and computational study of protein structure. Publication Status: Online-Only, [RefSeq, PubMed]; Targeted proteomics using parallel reaction monitoring confirms salivary proteins indicative of metastatic triple-negative breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B7ZMG7;Q9UBN0;Q9UCT0", "ec_number_list": [], "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051930 regulation of sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P02814-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DPA3-1", "uniprot_id": [ { "id": "SNH28_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DPA3", "type": "external" } ], "mass": 25086.0, "length": 235, "protein_name": "Putative uncharacterized protein SNHG28", "gene_name": "SNHG28", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SNHG28; C1orf204", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SNHG28; Small nucleolar RNA host gene 2; VSIG8 overlapping transcript protein; VSIG8-OT1", "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": "Q5VU13;Q5VU14", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DPA3-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22532-1", "uniprot_id": [ { "id": "SPR2D_HUMAN", "url": "https://www.uniprot.org/uniprot/P22532", "type": "external" } ], "mass": 7905.0, "length": 72, "protein_name": "Small proline-rich protein 2D", "gene_name": "SPRR2D", "organism": "Human", "refseq_name": "small proline-rich protein 2D", "refseq_ac": [ { "id": "NP_008876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008876", "type": "external" } ], "gene_names_uniprotkb": "SPRR2D", "gene_names_refseq": "SPRR2D", "protein_names_uniprotkb": "Small proline-rich protein 2D; SPR-2D; SPR-II; Small proline-rich protein II", "protein_names_refseq": "SPR-2D; SPR-II; small proline-rich protein 2D; small proline-rich protein II", "tax_id": 9606, "disease": "", "pathway": " (hsa:6703); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11279051;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18643845;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;3133554;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families., [RefSeq, PubMed]; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A4QN03;A8K5K2;D3DV33;Q5T523;Q96RM3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P22532-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P84550-1", "uniprot_id": [ { "id": "SKOR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P84550", "type": "external" } ], "mass": 99831.0, "length": 965, "protein_name": "SKI family transcriptional corepressor 1", "gene_name": "SKOR1", "organism": "Human", "refseq_name": "SKI family transcriptional corepressor 1", "refseq_ac": [ { "id": "NP_001352844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352844", "type": "external" } ], "gene_names_uniprotkb": "SKOR1; CORL1; FUSSEL15; LBXCOR1", "gene_names_refseq": "CORL1; FUSSEL15; LBXCOR1; SKOR1", "protein_names_uniprotkb": "SKI family transcriptional corepressor 1; Functional Smad-suppressing element on chromosome 15; Fussel-15; LBX1 corepressor 1; Ladybird homeobox corepressor 1", "protein_names_refseq": "LBX1 corepressor 1; Lbxcor1 homolog; SKI family transcriptional corepressor 1; corepressor for LBX1; functional Smad-suppressing element on chromosome 15; ladybird homeobox corepressor 1; transcriptional corepressor CORL1", "tax_id": 9606, "disease": "nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:390598)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;17292623;17637780;18541116;19279021;27932480;29789417;29798820;30379171;32387766;32572201;34509645;35051231;38529808", "class_list": "", "function": "A novel gene, fussel-15 (functional smad suppressing element on chromosome 15) with high homology to the recently discovered Fussel-18 protein., [RefSeq, PubMed]; Acts as a transcriptional corepressor of LBX1 (By similarity). Inhibits BMP signaling., [UniProtKB]; Human alpha-synuclein overexpression upregulates SKOR1 in a rat model of simulated nigrostriatal ageing., [RefSeq, PubMed]; MAP2K5/SKOR1 may be associated with Chinese essential tremor patients., [RefSeq, PubMed]; MEIS1 and LBXCOR1 are developmental factors and raise new pathophysiologic questions for RLS. Review article, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs 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": 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": "A6NIP4;A6NJY0;Q2VWA5", "ec_number_list": [], "go_molecular_function": "GO:0046332 SMAD binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0030514 negative regulation of BMP signaling pathway;GO:0090101 negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P84550-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53GS9-1", "uniprot_id": [ { "id": "UBP39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53GS9", "type": "external" } ], "mass": 65381.0, "length": 565, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 39", "gene_name": "USP39", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 39 isoform 1", "refseq_ac": [ { "id": "NP_001243654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243654", "type": "external" } ], "gene_names_uniprotkb": "USP39; CGI-21; HSPC332; PRO2855", "gene_names_refseq": "65K; CGI-21; HSPC332; SAD1; SNRNP65; USP39", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 39; 3.4.19.12; SAD1 homolog; U4/U6.U5 tri-snRNP-associated 65 kDa protein", "protein_names_refseq": "SAD1 homolog; SnRNP assembly defective 1 homolog; U4/U6.U5 tri-snRNP-associated 65 kDa protein; U4/U6.U5 tri-snRNP-associated protein 2; inactive ubiquitin-specific peptidase 39; small nuclear ribonucleoprotein 65kDa (U4/U6.U5); ubiquitin carboxyl-terminal hydrolase 39 isoform 1; ubiquitin carboxyl-terminal hydrolase 39; ubiquitin specific protease 39", "tax_id": 9606, "disease": "", "pathway": " (hsa:10713); (R-HSA-72163)", "pathway_count": 2, "publication_count": 169, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11350945;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16723661;16809785;17081983;17095540;17287340;17322306;17332742;17606899;18322460;18452278;18593880;18669648;18728397;18767875;19103666;19165350;19536130;19651622;20058876;20068231;20423332;20980672;21406692;21536652;21740066;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24275569;24304693;24448447;24715725;24737827;24914973;25555158;25576301;2558966;25892735;26154972;26375851;26385511;26420826;26768311;26811146;26912367;26969736;27377154;27459055;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28218747;28228285;28502770;28510447;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29557506;29632046;29632711;2963332;29769354;29786170;30315122;30315277;30379171;30484775;30524438;30705154;30728453;30765414;30771428;30833945;30975767;31154438;31217245;31409651;31844290;31848261;32157095;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33127822;33141586;33243851;33298915;33446560;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34301950;34405274;34509645;34614178;34725712;34822310;35051231;35385551;35561310;35580925;36010968;36284347;36651806;3757028;37938771;38706215;39260689;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Deubiquitinating enzyme USP39 promotes the growth and metastasis of gastric cancer cells by modulating the degradation of RNA-binding protein RBM39., [RefSeq, PubMed]; Deubiquitinating enzyme that plays a role in many cellular processes including cellular antiviral response, epithelial morphogenesis, DNA repair or B-cell development (PubMed:33127822, PubMed:34614178). Plays a role in pre-mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the precatalytic spliceosome (PubMed:11350945, PubMed:26912367). Specifically regulates immunoglobulin gene rearrangement in a spliceosome-dependent manner, which involves modulating chromatin interactions at the Igh locus and therefore plays an essential role in B-cell development (By similarity). Regulates AURKB mRNA levels, and thereby plays a role in cytokinesis and in the spindle checkpoint (PubMed:18728397). Regulates apoptosis and G2/M cell cycle checkpoint in response to DNA damage by deubiquitinating and stabilizing CHK2 (PubMed:30771428). Also plays an important role in DNA repair by controlling the recruitment of XRCC4/LIG4 to DNA double-strand breaks for non-homologous end-joining repair (PubMed:34614178). Participates in antiviral activity by affecting the type I IFN signaling by stabilizing STAT1 and decreasing its 'Lys-6'-linked ubiquitination (PubMed:33127822). Contributes to non-canonical Wnt signaling during epidermal differentiation (By similarity). Acts as a negative regulator NF-kappa-B activation through deubiquitination of 'Lys-48'-linked ubiquitination of NFKBIA (PubMed:36651806)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; These observations suggest Usp39 to be involved in splicing of Aurora B and other mRNAs that are essential for proper spindle checkpoint function., [RefSeq, PubMed]; USP39 Promotes the Viability and Migration of Head and Neck Squamous Cell Carcinoma Cell by Regulating STAT1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "A8K086;B3KM40;B4DHT4;D6W5L4;G5E9H0;Q6NX47;Q96RK9;Q9BV89;Q9H381;Q9P050;Q9Y310", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0046540 U4/U6 x U5 tri-snRNP complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0016579 protein deubiquitination;GO:0051301 cell division;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q53GS9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SQS7-1", "uniprot_id": [ { "id": "SH24B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SQS7", "type": "external" } ], "mass": 51232.0, "length": 431, "protein_name": "SH2 domain-containing protein 4B", "gene_name": "SH2D4B", "organism": "Human", "refseq_name": "SH2 domain-containing protein 4B isoform 2", "refseq_ac": [ { "id": "NP_001139191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139191", "type": "external" } ], "gene_names_uniprotkb": "SH2D4B", "gene_names_refseq": "SH2D4B", "protein_names_uniprotkb": "SH2 domain-containing protein 4B", "protein_names_refseq": "SH2 domain-containing protein 4B isoform 2; SH2 domain-containing protein 4B; novel SH2 domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:387694)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;29508533", "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": "Q5SQS5;Q6ZVW9;Q6ZVZ3", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5SQS7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6AI14-1", "uniprot_id": [ { "id": "SL9A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6AI14", "type": "external" } ], "mass": 89814.0, "length": 798, "protein_name": "Sodium/hydrogen exchanger 4", "gene_name": "SLC9A4", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 4 precursor", "refseq_ac": [ { "id": "NP_001011552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011552", "type": "external" } ], "gene_names_uniprotkb": "SLC9A4; NHE4", "gene_names_refseq": "NHE4; SLC9A4", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 4; NHE-4; Na(+)/H(+) exchanger 4; Solute carrier family 9 member 4", "protein_names_refseq": "NHE-4; Na(+)/H(+) exchanger 4; sodium/hydrogen exchanger 4 precursor; sodium/hydrogen exchanger 4; solute carrier family 9 (sodium/hydrogen exchanger), member 4; solute carrier family 9 member 4; solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4", "tax_id": 9606, "disease": "nephrolithiasis (Disease Ontology:DOID:585)", "pathway": " (hsa:389015); (R-HSA-425986)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10444453;11279194;11940519;15522866;17943310;22049213;24715725;2536298;31844290;32983136;33769074;34785669;35051231;36215666;7631746;9933641", "class_list": "", "function": "Data demonstrate functional NHE4 activity in the rat and human colon and suggest that this exchanger is capable of modulating intracellular pH over a wide pH spectrum and may play an important role in maintaining cellular pH homeostasis., [RefSeq, PubMed]; Electroneutral antiporter that exchanges sodium for protons or ammonium ions at the basolateral membrane of epithelia to regulate cell volume and intracellular pH upon hypertonic conditions (By similarity). As part of transcellular ammonia transport in renal tubules, mediates basolateral ammonium extrusion in the medullary thick ascending limb, regulating the corticopapillary ammonium gradient and overall renal acid excretion (By similarity). Mediates sodium:proton exchange in gastric parietal cells secondary to cAMP-dependent acid secretion and hyperosmolarity. Possibly coupled to chloride:bicarbonate antiporter, enables loading of parietal cells with sodium and chloride ions to maintain cell volume and normal gastric acid secretion (By similarity). Functions as a sodium sensor in neurons of organum vasculosum of the lamina terminalis where it regulates water intake in response to increased sodium concentration in body fluids (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Integrating disease and drug-related phenotypes for improved identification of pharmacogenomic variants., [RefSeq, PubMed]; Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4. Publication Status: Online-Only, [RefSeq, PubMed]; T84 human colon cells contain three isoforms of the Na+/H+ exchanger, NHE1, NHE2, and NHE4, but not the Cl-dependent NHE, [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": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q69YK0", "ec_number_list": [ { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.104", "type": "external" } ], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0042589 zymogen granule membrane", "go_biological_process": "GO:0070634 transepithelial ammonium transport;GO:0035725 sodium ion transmembrane transport;GO:0051453 regulation of intracellular pH;GO:0071805 potassium ion transmembrane transport;GO:0098719 sodium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6AI14-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6X4U4-1", "uniprot_id": [ { "id": "SOSD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6X4U4", "type": "external" } ], "mass": 23307.0, "length": 206, "protein_name": "Sclerostin domain-containing protein 1", "gene_name": "SOSTDC1", "organism": "Human", "refseq_name": "sclerostin domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_056279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056279", "type": "external" } ], "gene_names_uniprotkb": "SOSTDC1; CDA019; USAG1", "gene_names_refseq": "CDA019; DAND7; ECTODIN; SOSTDC1; USAG1", "protein_names_uniprotkb": "Sclerostin domain-containing protein 1; Ectodermal BMP inhibitor; Ectodin; USAG-1; Uterine sensitization-associated gene 1 protein", "protein_names_refseq": "cystine-knot containing secreted protein; ectodermal BMP inhibitor; sclerostin domain-containing protein 1 precursor; uterine sensitization-associated protein-1; wise", "tax_id": 9606, "disease": "", "pathway": " (hsa:25928)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "14623234;15020244;15340161;18032587;31529323;31611695;32125861;32779697;34911834;35138469;35442555", "class_list": "", "function": "As rat Sostdc1 and human SOSTDC1 are dual antagonists of the Wnt/beta-catenin and BMP signaling pathways, these results underscore the potential crucial roles of these pathways and their antagonists, such as Sostdc1 and SOSTDC1, in developing and adult mammalian normal eyes as well as in syndromic and nonsyndromic congenital eye diseases., [RefSeq, PubMed]; Characterization of the different oligomeric states of the DAN family antagonists SOSTDC1 and SOST., [RefSeq, PubMed]; Data suggest that ectodin is a novel bone morphogenetic protein (BMP) inhibitor which integrates BMP signaling with the SHH and FGF signal pathways, [RefSeq, PubMed]; Exosomal circ_0001190 Regulates the Progression of Gastric Cancer via miR-586/SOSTDC1 Axis., [RefSeq, PubMed]; Impact of microRNA-21-5p on the growth of thyroid cancer cells via targeting the recombinant sclerostin domain containing protein 1.', trans 'RNA-21-5p1., [RefSeq, PubMed]; May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling (By similarity). Directly antagonizes activity of BMP2, BMP4, BMP6 and BMP7 in a dose-dependent manner., [UniProtKB, PubMed]; SOSTDC1 acts as a tumor inhibitor in acute myeloid leukemia by downregulating the Wnt/beta-catenin pathway., [RefSeq, PubMed]; This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]., [RefSeq]; This screen identified a bone morphogenetic protein (BMP) antagonist, SOSTDC1 (sclerostin domain-containing-1) as down-regulated in kidney tumors., [RefSeq, PubMed]; USAG1 is expressed in the kidney and functions as a bone morphogenetic protein antagonist., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 831, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MUA6;Q96HJ7;Q9Y3U3", "ec_number_list": [], "go_molecular_function": "GO:0098821 BMP receptor activity;GO:0036122 BMP binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0030514 negative regulation of BMP signaling pathway;GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway;GO:0045662 negative regulation of myoblast differentiation;GO:2000016 negative regulation of determination of dorsal identity", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6X4U4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZV89-1", "uniprot_id": [ { "id": "SH2D5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZV89", "type": "external" } ], "mass": 46797.0, "length": 423, "protein_name": "SH2 domain-containing protein 5", "gene_name": "SH2D5", "organism": "Human", "refseq_name": "SH2 domain-containing protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001096630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096630", "type": "external" } ], "gene_names_uniprotkb": "SH2D5", "gene_names_refseq": "SH2D5", "protein_names_uniprotkb": "SH2 domain-containing protein 5", "protein_names_refseq": "SH2 domain-containing protein 5 isoform 2; SH2 domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:400745)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;23481700;25331951;25892735;29557506;30659097;33968037;35051231;37187527", "class_list": "", "function": "May be involved in synaptic plasticity regulation through the control of Rac-GTP levels., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Prognostic significance of SH2D5 expression in lung adenocarcinoma and its relation to immune cell infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that SH2D5 is an HBV-induced protein capable of binding to TKT, leading to induction of HCC cell proliferation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3W3;Q5SSJ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0014069 postsynaptic density", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6ZV89-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3B0-1", "uniprot_id": [ { "id": "SIM15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3B0", "type": "external" } ], "mass": 8625.0, "length": 74, "protein_name": "Small integral membrane protein 15", "gene_name": "SMIM15", "organism": "Human", "refseq_name": "small integral membrane protein 15", "refseq_ac": [ { "id": "NP_001041714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041714", "type": "external" } ], "gene_names_uniprotkb": "SMIM15; C5orf43", "gene_names_refseq": "C5orf43; SMIM15", "protein_names_uniprotkb": "Small integral membrane protein 15", "protein_names_refseq": "UPF0542 protein C5orf43; small integral membrane protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:643155)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "24715725;25576301;25645385;26154972;26375851;26992070;27397612;27600516;27846572;27862975;28063628;28218747;28228285;28446606;28832583;28834231;29242379;29393594;29557506;29632046;29632711;29786170;30315122;30410026;30429286;31092671;31154438;31844290;31848261;31998317;32161166;32265295;32897882;32938616;32983136;33592498;33691108;33968037;35051231;35580925;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EJC4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q7Z3B0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW03-1", "uniprot_id": [ { "id": "SIAH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW03", "type": "external" } ], "mass": 30660.0, "length": 269, "protein_name": "Seven in absentia homolog 3", "gene_name": "SIAH3", "organism": "Human", "refseq_name": "seven in absentia homolog 3", "refseq_ac": [ { "id": "NP_942146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_942146", "type": "external" } ], "gene_names_uniprotkb": "SIAH3", "gene_names_refseq": "SIAH3", "protein_names_uniprotkb": "Seven in absentia homolog 3; Siah-3", "protein_names_refseq": "seven in absentia homolog 3; siah-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:283514)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "24270810;28005267;31711042;34171305;35051231", "class_list": "", "function": "Genome-wide association study identifies SIAH3 locus influencing the rate of ventricular enlargement in non-demented elders., [RefSeq, PubMed]; Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria., [UniProtKB, PubMed]; SIAH3 expression is significantly downregulated in human masticatory mucosa during wound healing, [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": 13, "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": "B7ZBP0;Q8N8M6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0031647 regulation of protein stability;GO:1903215 negative regulation of protein targeting to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IW03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD33-1", "uniprot_id": [ { "id": "SG1C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD33", "type": "external" } ], "mass": 10414.0, "length": 95, "protein_name": "Secretoglobin family 1C member 1", "gene_name": "SCGB1C1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SCGB1C1", "gene_names_refseq": "", "protein_names_uniprotkb": "Secretoglobin family 1C member 1; Secretoglobin RYD5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:147199); (hsa:653486)", "pathway_count": 2, "publication_count": 1, "publication_id_list": "12406855", "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": "A8MSI9;Q14DW0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8TD33-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW59-1", "uniprot_id": [ { "id": "SPRY4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW59", "type": "external" } ], "mass": 23098.0, "length": 207, "protein_name": "SPRY domain-containing protein 4", "gene_name": "SPRYD4", "organism": "Human", "refseq_name": "SPRY domain-containing protein 4", "refseq_ac": [ { "id": "NP_997227", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997227", "type": "external" } ], "gene_names_uniprotkb": "SPRYD4", "gene_names_refseq": "SPRYD4", "protein_names_uniprotkb": "SPRY domain-containing protein 4", "protein_names_refseq": "SPRY domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:283377)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "17852359;19608861;20877624;28510447;30238408;31373491;33950983;37142983;40596516", "class_list": "", "function": "Identification of SPRYD4 as a tumour suppressor predicts prognosis and correlates with immune infiltration in cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-363-3p promote the development of acute myeloid leukemia with RUNX1 mutation by targeting SPRYD4 and FNDC3B., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; SPRYD4 expression may serve as a biomarker for a good overall and relapse-free survival in hepatocellular carcinoma patients., [RefSeq, PubMed]; Subcellular localization demonstrates that SPRYD4 (SPRY-domain-containing) protein is localized in the nucleus when overexpressed in COS-7 green monkey cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7A5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8WW59-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92187-1", "uniprot_id": [ { "id": "SIA8D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92187", "type": "external" } ], "mass": 41295.0, "length": 359, "protein_name": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase", "gene_name": "ST8SIA4", "organism": "Human", "refseq_name": "CMP-N-acetylneuraminate-poly-alpha-2, 8-sialyltransferase isoform a precursor", "refseq_ac": [ { "id": "NP_005659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005659", "type": "external" } ], "gene_names_uniprotkb": "ST8SIA4; PST1; PST; SIAT8D", "gene_names_refseq": "PST1; PST; SIAT8-D; SIAT8D; ST8SIA-IV; ST8SIA4; ST8SiaIV", "protein_names_uniprotkb": "CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; 2.4.3.-; Alpha-2,8-sialyltransferase 8D; Polysialyltransferase-1; Polysialyltransferase; SIAT8-D; ST8SiaIV; Sialyltransferase 8D; Sialyltransferase St8Sia IV", "protein_names_refseq": "CMP-N-acetylneuraminate-poly-alpha-2, 8-sialyltransferase isoform a precursor; CMP-N-acetylneuraminate-poly-alpha-2,8-sialyl transferase; CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase; ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 4; alpha-2,8-sialyltransferase 8D; polysialyltransferase-1; sialyltransferase 8 (alpha-2, 8-polysialytransferase) D; sialyltransferase St8Sia IV; sialytransferase St8Sia IV", "tax_id": 9606, "disease": "", "pathway": " (hsa:7903); (R-HSA-4085001); (R-HSA-419037)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10766765;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;12765789;14962670;15136692;15213228;15501818;15576474;16147865;16237198;16267048;16959974;17123352;1756715;18059411;18512783;18632803;19797320;21081508;22299025;22692205;23328677;23584533;23719902;24190977;25418920;25502872;25892735;26992070;27726376;27869121;28032858;2809592;28228285;28233978;28427206;28467828;28810663;28832583;28904123;29242379;29314611;29317506;29508533;29557506;29632711;29769354;30315122;30429286;30569872;30573663;31020640;31154438;31217245;3136930;31844290;32161166;32350084;32357974;32983136;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34357683;35051231;35154160;35580925;36581221;37074911;38103644;7252518;7559389;7624364;8262246;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9398268;9774483;9822625;9826427;9852130", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of a sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an N-linked glycan protein acceptor through alpha-2,8-linkages (PubMed:10766765, PubMed:11279095, PubMed:28810663, PubMed:9774483). Therefore, participates in polysialic acid synthesis on various sialylated N-acetyllactosaminyl oligosaccharides, including NCAM1 N-glycans, FETUB N-glycans and AHSG (PubMed:10766765, PubMed:11279095, PubMed:28810663, PubMed:9774483). It is noteworthy that alpha-2,3-linked sialic acid is apparently a better acceptor than alpha-2,6-linked sialic acid (PubMed:9774483)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Changes in the glycosylation patterns and sialylation levels may be useful markers of the progression of breast cancer, as well as miR-26a/26b may be widely involved in the regulation of sialylation machinery by targeting ST8SIA4. Publication Status: Online-Only, [RefSeq, PubMed]; Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4 have been described., [RefSeq, PubMed]; Identification of a buried beta-strand as a novel disease-related motif in the human polysialyltransferases., [RefSeq, PubMed]; Our results demonstrate that miR-146a and miR-146b promote proliferation, migration and invasion of FTC via inhibition of ST8SIA4., [RefSeq, PubMed]; The polybasic region of the polysialyltransferase ST8Sia-IV binds directly to NCAM., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. 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": 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": 5, "reported_glycation": 0, "reported_snv": 407, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8KA07;G3V104;Q8N1F4;Q92693", "ec_number_list": [ { "id": "2.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.-", "type": "external" }, { "id": "2.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.-", "type": "external" }, { "id": "2.4.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.8", "type": "external" } ], "go_molecular_function": "GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;GO:0033691 sialic acid binding;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0036211 protein modification process;GO:0007399 nervous system development;GO:0009101 glycoprotein biosynthetic process;GO:0009311 oligosaccharide metabolic process;GO:0006491 N-glycan processing", "synthesized_glycan_count": 21, "hit_score": 13.2, "record_id": "Q92187-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PQ1-1", "uniprot_id": [ { "id": "SIG12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PQ1", "type": "external" } ], "mass": 64984.0, "length": 595, "protein_name": "Sialic acid-binding Ig-like lectin 12", "gene_name": "SIGLEC12", "organism": "Human", "refseq_name": "sialic acid-binding Ig-like lectin 12 isoform b precursor", "refseq_ac": [ { "id": "NP_201586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_201586", "type": "external" } ], "gene_names_uniprotkb": "SIGLEC12; PRO34042; SIGLECL1; SLG", "gene_names_refseq": "S2V; SIGLEC12; SIGLECL1; SLG; Siglec-XII", "protein_names_uniprotkb": "Sialic acid-binding Ig-like lectin 12; Sialic acid-binding Ig-like lectin-like 1; Siglec-12; Siglec-L1", "protein_names_refseq": "SIGLEC-like 1; sialic acid-binding Ig-like lectin 12 isoform b precursor; sialic acid-binding Ig-like lectin-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:89858); (R-HSA-198933)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "10499918;10746781;11237011;11265639;11409877;11489943;11513152;11546777;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18452278;18593354;19149696;19359216;19592130;19913121;20237496;20628086;20730098;21241660;21555517;21800138;21841309;21877119;22396535;23690342;23695528;23929856;24305946;25703557;25716998;26284469;26300885;28228285;29557506;29774024;32387766;32983136;33968037;35051231;35251023;35580925;37938771;38253038;38990656;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "Cardiovascular outcomes may differ based on SIGLEC12 genotype, and antihypertensive treatment strategy., [RefSeq, PubMed]; Human-specific elimination of epithelial Siglec-XII suppresses the risk of inflammation-driven colorectal cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Putative adhesion molecule that mediates sialic-acid dependent binding to cells. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface., [UniProtKB]; SIGLEC12, a human-specific segregating (pseudo)gene, encodes a signaling molecule expressed in prostate carcinomas., [RefSeq, PubMed]; Sialic acid-binding immunoglobulin-like lectins (SIGLECs) are a family of cell surface proteins belonging to the immunoglobulin superfamily. They mediate protein-carbohydrate interactions by selectively binding to different sialic acid moieties present on glycolipids and glycoproteins. This gene encodes a member of the SIGLEC3-like subfamily of SIGLECs. Members of this subfamily are characterized by an extracellular V-set immunoglobulin-like domain followed by two C2-set immunoglobulin-like domains, and the cytoplasmic tyrosine-based motifs ITIM and SLAM-like. The encoded protein, upon tyrosine phosphorylation, has been shown to recruit the Src homology 2 domain-containing protein-tyrosine phosphatases SHP1 and SHP2. It has been suggested that the protein is involved in the negative regulation of macrophage signaling by functioning as an inhibitory receptor. This gene is located in a cluster with other SIGLEC3-like genes on 19q13.4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 7, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 965, "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": "Q8IYH7", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q96PQ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RM1-1", "uniprot_id": [ { "id": "SPR2F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RM1", "type": "external" } ], "mass": 7805.0, "length": 72, "protein_name": "Small proline-rich protein 2F", "gene_name": "SPRR2F", "organism": "Human", "refseq_name": "small proline-rich protein 2F", "refseq_ac": [ { "id": "NP_001014450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014450", "type": "external" } ], "gene_names_uniprotkb": "SPRR2F", "gene_names_refseq": "SPRR2F", "protein_names_uniprotkb": "Small proline-rich protein 2F; SPR-2F", "protein_names_refseq": "SPR-2F; small proline-rich protein 2F", "tax_id": 9606, "disease": "", "pathway": " (hsa:6705); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11279051;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18643845;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;31682009;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families., [RefSeq, PubMed]; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane (By similarity)., [UniProtKB]; SPRR2F expression is significantly downregulated in healthy palatal mucosa of smokers, [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": 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": "Q5T9T3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q96RM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQI5-1", "uniprot_id": [ { "id": "SGIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQI5", "type": "external" } ], "mass": 89109.0, "length": 828, "protein_name": "SH3-containing GRB2-like protein 3-interacting protein 1", "gene_name": "SGIP1", "organism": "Human", "refseq_name": "SH3-containing GRB2-like protein 3-interacting protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001295132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295132", "type": "external" } ], "gene_names_uniprotkb": "SGIP1", "gene_names_refseq": "SGIP1", "protein_names_uniprotkb": "SH3-containing GRB2-like protein 3-interacting protein 1; Endophilin-3-interacting protein", "protein_names_refseq": "SH3 domain GRB2 like endophilin interacting protein 1; SH3-containing GRB2-like protein 3-interacting protein 1 isoform 2; SH3-containing GRB2-like protein 3-interacting protein 1; endophilin-3-interacting protein", "tax_id": 9606, "disease": "early-onset Parkinson's disease (Disease Ontology:DOID:0060894)", "pathway": " (hsa:84251); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 213, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11230166;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;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;15919751;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17626015;17681954;17713526;17762867;17765681;17975119;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18510355;18775314;18790740;18819912;18981233;19023099;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21407171;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;26042225;26403691;26822536;26829388;28030933;2890644;30236986;33118832;34087483;3417785;35051231;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "Crystal structures of the SGIP1 mu homology domains in complex with peptides containing two DPF motifs, are reported. Publication Status: Online-Only, [RefSeq, PubMed]; Data indicate that cysteine C632 residue is important for the function of SH3 domain GRB2 like endophilin interacting protein 1 (SGIP1) during cellular endocytosis., [RefSeq, PubMed]; May function in clathrin-mediated endocytosis. Has both a membrane binding/tubulating activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a preference for membranes enriched in phosphatidylserine and phosphoinositides and is required for the endocytosis of the transferrin receptor. May also bind tubulin. May play a role in the regulation of energy homeostasis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Plasma SGIP1 methylation in diagnosis and prognosis prediction in hepatocellular carcinoma., [RefSeq, PubMed]; SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis et al., 2005 [PubMed 15919751] and Uezu et al., 2007 [PubMed 17626015]).[supplied by OMIM, Mar 2008]., [RefSeq]; SGIP1alpha plays an essential role in clathrin-mediated endocytosis by interacting with phospholipids and Eps15., [RefSeq, PubMed]; The present study demonstrated a possible association of target P300 evoked theta and of alcohol dependence with SNPs from the gene SGIP1 in the region of rs10889635, but further studies are required., [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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "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": "A6NL81;A6NLD1;Q4LE32;Q5VYE2;Q5VYE3;Q5VYE4;Q68D76;Q6MZY6;Q8IWC2", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0008017 microtubule binding;GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0097009 energy homeostasis;GO:2000253 positive regulation of feeding behavior;GO:0072583 clathrin-dependent endocytosis;GO:0048260 positive regulation of receptor-mediated endocytosis;GO:0002021 response to dietary excess", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q9BQI5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVW6-1", "uniprot_id": [ { "id": "SMIM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVW6", "type": "external" } ], "mass": 9520.0, "length": 85, "protein_name": "Small integral membrane protein 2", "gene_name": "SMIM2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SMIM2; C13orf44", "gene_names_refseq": "", "protein_names_uniprotkb": "Small integral membrane protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5SZS7", "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": "Q9BVW6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXW3-1", "uniprot_id": [ { "id": "SNH12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXW3", "type": "external" } ], "mass": 6988.0, "length": 62, "protein_name": "Putative uncharacterized protein SNHG12", "gene_name": "SNHG12", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SNHG12; C1orf79; PNAS-123; TRG11", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SNHG12; TRG-11; Transformation-related gene 11 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "28218747;29437277", "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": "Q9BXW3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H040-1", "uniprot_id": [ { "id": "SPRTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H040", "type": "external" } ], "mass": 55134.0, "length": 489, "protein_name": "DNA-dependent metalloprotease SPRTN", "gene_name": "SPRTN", "organism": "Human", "refseq_name": "DNA-dependent metalloprotease SPRTN isoform b", "refseq_ac": [ { "id": "NP_001010984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010984", "type": "external" } ], "gene_names_uniprotkb": "SPRTN; C1orf124; DVC1; PRO4323", "gene_names_refseq": "C1orf124; DVC1; PRO4323; SPRTN; spartan", "protein_names_uniprotkb": "DNA-dependent metalloprotease SPRTN; 3.4.24.-; DNA damage protein targeting VCP; DVC1; Protein with SprT-like domain at the N terminus; Spartan", "protein_names_refseq": "DNA damage protein targeting VCP; DNA damage-targeting VCP (p97) adaptor; DNA-dependent metalloprotease SPRTN isoform b; DNA-dependent metalloprotease SPRTN; zinc finger RAD18 domain-containing protein", "tax_id": 9606, "disease": "Ruijs-Aalfs syndrome (Disease Ontology:DOID:0111264)", "pathway": " (hsa:83932); (R-HSA-110320)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10801132;10856253;11237011;12975309;15149598;16139798;19413330;20008555;20159558;21791603;22681887;22894931;22902628;22987070;23042605;23042607;23186163;23481700;24715725;24768535;25218447;25261934;25576301;25755297;26992070;27084448;27846572;27852435;27871365;27871366;27920218;28228285;28834231;28904123;29242379;30315122;30429286;30779550;30893605;31217245;31316063;31530632;31844290;32152270;32157095;32161166;32387766;32488085;32502341;32649882;32897882;32938616;33141586;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34932366;35469923;36010968;36215666;36241641;36608669;36681662;38086993", "class_list": "", "function": "Authors propose that Spartan promotes genomic stability by regulating the choice of rescue of stalled replication fork, whose mechanism includes its interaction with ubiquitin-conjugated PCNA and protection against PCNA deubiquitylation., [RefSeq, PubMed]; C1orf124 acts at multiple steps in TLS, stabilizes RAD18 and ubiquitinated PCNA at damage sites, and facilitates the switch from replicative to TLS polymerase to bypass DNA lesion., [RefSeq, PubMed]; DNA-dependent metalloendopeptidase that mediates the proteolytic cleavage of covalent DNA-protein cross-links (DPCs) during DNA synthesis, thereby playing a key role in maintaining genomic integrity (PubMed:27852435, PubMed:27871365, PubMed:27871366, PubMed:30893605, PubMed:32649882, PubMed:36608669). DPCs are highly toxic DNA lesions that interfere with essential chromatin transactions, such as replication and transcription, and which are induced by reactive agents, such as UV light or formaldehyde (PubMed:27852435, PubMed:27871365, PubMed:27871366, PubMed:32649882, PubMed:36608669). Associates with the DNA replication machinery and specifically removes DPCs during DNA synthesis (PubMed:27852435, PubMed:27871365, PubMed:27871366, PubMed:32649882). Catalyzes proteolytic cleavage of the HMCES DNA-protein cross-link following unfolding by the BRIP1/FANCJ helicase (PubMed:36608669). Acts as a pleiotropic protease for DNA-binding proteins cross-linked with DNA, such as TOP1, TOP2A, histones H3 and H4 (PubMed:27871366). Mediates degradation of DPCs that are not ubiquitinated, while it is not able to degrade ubiquitinated DPCs (By similarity). SPRTN activation requires polymerase collision with DPCs followed by helicase bypass of DPCs (By similarity). Involved in recruitment of VCP/p97 to sites of DNA damage (PubMed:22902628, PubMed:23042605, PubMed:23042607, PubMed:32152270). Also acts as an activator of CHEK1 during normal DNA replication by mediating proteolytic cleavage of CHEK1, thereby promoting CHEK1 removal from chromatin and subsequent activation (PubMed:31316063). Does not activate CHEK1 in response to DNA damage (PubMed:31316063). May also act as a 'reader' of ubiquitinated PCNA: recruited to sites of UV damage and interacts with ubiquitinated PCNA and RAD18, the E3 ubiquitin ligase that monoubiquitinates PCNA (PubMed:22681887, PubMed:22894931, PubMed:22902628, PubMed:22987070). Facilitates chromatin association of RAD18 and is required for efficient PCNA monoubiquitination, promoting a feed-forward loop to enhance PCNA ubiquitination and translesion DNA synthesis (PubMed:22681887)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DVC1 (C1orf124) is a DNA damage-targeting p97 adaptor that promotes ubiquitin-dependent responses to replication blocks., [RefSeq, PubMed]; SPRTN is involved in hepatocellular carcinoma development through the ER stress response. Erratum:[Cancer Gene Ther. 2024 May;31(5):802-804. doi: 10.1038/s41417-024-00772-w. PMID: 38600122], [RefSeq, PubMed]; SPRTN patient variants cause global-genome DNA-protein crosslink repair defects. Publication Status: Online-Only, [RefSeq, PubMed]; Spartan is recruited to sites of stalled replication via ubiquitinated PCNA and plays an important role to prevent mutations associated with replication of damaged DNA., [RefSeq, PubMed]; Spartan promotes an unexpected feed-forward loop to enhance PCNA ubiquitylation and translesion DNA synthesis., [RefSeq, PubMed]; The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]., [RefSeq]; Ubiquitin-directed AAA+ ATPase p97/VCP unfolds stable proteins crosslinked to DNA for proteolysis by SPRTN., [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": 37, "reported_glycation": 0, "reported_snv": 11, "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": "B1AKT0;B5MEF7;Q5TE78;Q6UWW6;Q96BC5;Q96KA0", "ec_number_list": [ { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0003690 double-stranded DNA binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0006508 proteolysis;GO:0006974 DNA damage response;GO:0009411 response to UV;GO:0031398 positive regulation of protein ubiquitination;GO:0016540 protein autoprocessing", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9H040-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3U7-1", "uniprot_id": [ { "id": "SMOC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3U7", "type": "external" } ], "mass": 49674.0, "length": 446, "protein_name": "SPARC-related modular calcium-binding protein 2", "gene_name": "SMOC2", "organism": "Human", "refseq_name": "SPARC-related modular calcium-binding protein 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001159884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159884", "type": "external" } ], "gene_names_uniprotkb": "SMOC2; MSTP117; SMAP2", "gene_names_refseq": "DTDP1A; DTDP1; MST117; MSTP117; MSTP140; SMAP2; SMOC2; bA270C4A.1; bA37D8.1; dJ421D16.1", "protein_names_uniprotkb": "SPARC-related modular calcium-binding protein 2; SMAP-2; SMOC-2; Secreted modular calcium-binding protein 2; Smooth muscle-associated protein 2", "protein_names_refseq": "SMAP-2; SMOC-2; SPARC-related modular calcium-binding protein 2 isoform 2 precursor; SPARC-related modular calcium-binding protein 2; secreted modular calcium-binding protein 2; smooth muscle associated protein 2; thyroglobulin type-1 repeat containing protein", "tax_id": 9606, "disease": "dentin dysplasia type IA (Disease Ontology:DOID:0070704); dentin dysplasia (Disease Ontology:DOID:701)", "pathway": " (hsa:64094)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12031507;12741954;16774925;17204727;19890347;22152679;30620550;34230168;34339705;35494241;35543855;35869056;36284347;38612855;40596516", "class_list": "", "function": "Although this study specifies rat, the authors studied and discussed the human gene in this study as well., [RefSeq, PubMed]; FTO Positively Regulates Odontoblastic Differentiation via SMOC2 in Human Stem Cells from the Apical Papilla under Inflammatory Microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of gene, chromosome mapping, [RefSeq, PubMed]; MicroRNA-19a-3p Acts as an Oncogene in Gastric Cancer and Exerts the Effect by Targeting SMOC2., [RefSeq, PubMed]; Prognostic and clinicopathological significance of TMEFF2, SMOC-2, and SOX17 expression in endometrial carcinoma., [RefSeq, PubMed]; Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis., [UniProtKB, PubMed]; SMOC-2 is a novel angiogenic factor that potentiates angiogenic effects of growth factors, [RefSeq, PubMed]; SMOC2 is a risk locus for generalized vitiligo and perhaps other autoimmune diseases GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SMOC2 promotes an epithelial-mesenchymal transition and a pro-metastatic phenotype in epithelial cells of renal cell carcinoma origin. Publication Status: Online-Only, [RefSeq, PubMed]; The Intestinal Stem Cell Marker SMOC2 Is an Independent Prognostic Marker Associated With Better Survival in Gastric Cancer., [RefSeq, PubMed]; This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]; We tested association between SMOC2 polymorphisms and FEV(1) and FVC. SMOC2 might play an important role in the determination of FEV(1) and FVC, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KPS7;Q4G169;Q5TAT7;Q5TAT8;Q86VV9;Q96SF3;Q9H1L3;Q9H1L4;Q9H3U0;Q9H4F7;Q9HCV2", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005509 calcium ion binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0071944 cell periphery;GO:0005604 basement membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0035470 positive regulation of vascular wound healing;GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0030198 extracellular matrix organization;GO:0045931 positive regulation of mitotic cell cycle;GO:0010595 positive regulation of endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9H3U7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAT2-1", "uniprot_id": [ { "id": "SIAE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAT2", "type": "external" } ], "mass": 58315.0, "length": 523, "protein_name": "Sialate O-acetylesterase", "gene_name": "SIAE", "organism": "Human", "refseq_name": "sialate O-acetylesterase isoform 2", "refseq_ac": [ { "id": "NP_001186851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186851", "type": "external" } ], "gene_names_uniprotkb": "SIAE; YSG2", "gene_names_refseq": "AIS6; CSE-C; CSEC; LSE; SIAE; YSG2", "protein_names_uniprotkb": "Sialate O-acetylesterase; 3.1.1.53; H-Lse; SIAE; Sialic acid-specific 9-O-acetylesterase", "protein_names_refseq": "H-Lse; cytosolic sialic acid 9-O-acetylesterase homolog; sialate O-acetylesterase isoform 2; sialate O-acetylesterase; sialic acid-specific acetylesterase II", "tax_id": 9606, "disease": "autoimmune disease (Disease Ontology:DOID:417); autoimmune disease, susceptibility to, 6 (MONDO:MONDO:0013303)", "pathway": " (hsa:54414)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;15292578;19159218;20555325;21803834;22424782;23090970;24190977;24715725;24748456;25576301;25645385;26535733;27862975;27893789;27920218;28218747;28228285;28657654;28832583;28855257;28900629;28904123;29242379;29437277;29557506;29741879;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30833945;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33912179;33968037;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35289036;35580925;36241641;36284347;37074911;39894887", "class_list": "glycogene", "function": "Analysis of whether SIAE rare variants associated with phenotype of juvenile idiopathic arthritis (JIA) and autoimmunity risk in families with primary antibody deficiencies(PADS); 3 novel variants were found in patients with JIA and in their healthy relatives without autoimmunity; none of PAD patients or their relatives had SIAE defects; results show SIAE rare variants are not causative of autoimmunity as single defects, [RefSeq, PubMed]; Authors determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the removal of O-acetyl ester groups from position 9 of the free diacetylated sialate N-acetyl-9-O-acetylneuraminate (Neu5,9Ac2) in the cytosol and of the diacetylated sialate residues of sialylglycoconjugates in the lysosomes (Probable). Together with the sialate-O-acetyltransferase they regulate the balance of acetylated sialoglycoconjugates, key players in various processes such as cell-cell interactions, host-pathogen recognition, and tumor antigenicity (PubMed:21803834)., [UniProtKB, PubMed, PubMed]; This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]., [RefSeq]; We found A467V SIAE variants (c.1400C>T, rs7941523) in a heterozygous state in all the patients with anti-PIT-1 antibody 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "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": 667, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 47, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KPB0;Q8IUT9;Q9HAU7;Q9NT71", "ec_number_list": [ { "id": "3.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.53", "type": "external" } ], "go_molecular_function": "GO:0001681 sialate O-acetylesterase activity;GO:0106330 sialate 9-O-acetylesterase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9HAT2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPB0-1", "uniprot_id": [ { "id": "SAYS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPB0", "type": "external" } ], "mass": 20163.0, "length": 183, "protein_name": "SAYSvFN domain-containing protein 1", "gene_name": "SAYSD1", "organism": "Human", "refseq_name": "SAYSvFN domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001291722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291722", "type": "external" } ], "gene_names_uniprotkb": "SAYSD1; C6orf64", "gene_names_refseq": "C6orf64; SAYSD1", "protein_names_uniprotkb": "SAYSvFN domain-containing protein 1", "protein_names_refseq": "SAYSvFN domain-containing protein 1 isoform 2; SAYSvFN domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55776)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11230166;11237011;22361696;23481700;26992070;29493099;30429286;31844290;31848261;32387766;32938616;33633747;33936100;33968037;33981976;34561969;35051231;36010968;36848233", "class_list": "", "function": "Ufmylation 'reader' component of a translocation-associated quality control pathway, a mechanism that takes place when a ribosome has stalled during translation, and which is required to degrade clogged substrates (PubMed:36848233). Specifically recognizes and binds ufmylated ribosomes when a ribosome has stalled, promoting the transport of stalled nascent chain via the TRAPP complex to lysosomes for degradation (PubMed:36848233)., [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": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9H0D8", "ec_number_list": [], "go_molecular_function": "GO:0141185 UFM1-modified protein reader activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9NPB0-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXA8-1", "uniprot_id": [ { "id": "SIR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXA8", "type": "external" } ], "mass": 33881.0, "length": 310, "protein_name": "NAD-dependent protein deacylase sirtuin-5, mitochondrial", "gene_name": "SIRT5", "organism": "Human", "refseq_name": "NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform 3", "refseq_ac": [ { "id": "NP_001180196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180196", "type": "external" } ], "gene_names_uniprotkb": "SIRT5; SIR2L5", "gene_names_refseq": "SIR2L5; SIRT5", "protein_names_uniprotkb": "NAD-dependent protein deacylase sirtuin-5, mitochondrial; 2.3.1.-; Regulatory protein SIR2 homolog 5; SIR2-like protein 5", "protein_names_refseq": "NAD-dependent deacetylase sirtuin-5; NAD-dependent lysine demalonylase and desuccinylase sirtuin-5, mitochondrial; NAD-dependent protein deacylase sirtuin-5, mitochondrial isoform 3; silent mating type information regulation 2, S.cerevisiae, homolog 5; sir2-like 5; sirtuin type 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:23408); (R-HSA-2151201); (R-HSA-70635)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10369256;10381378;10412986;10643692;10713165;10813810;11237011;11237854;11340167;11809803;12374852;12459178;12563009;12745923;12807890;12859189;12948741;15050968;15684387;16079181;16079853;16141327;16788062;16890199;16908542;16911507;17031457;17355872;17407445;17437997;17496144;17715127;17900240;17923681;18215119;18263583;18323623;18343819;18680753;19001277;19006241;19356719;19417006;19754428;19951946;21143562;21908771;22076378;2263616;22767592;22849721;23028781;23185430;23438705;23649895;23806337;24140062;24703693;26592762;29180469;29242379;32157095;32350084;33592498;35251023;36980194;37890719;38112979;38253038;38532359;38785262;39894887;40596516;518841;6249820;6372096;7629110;7649538;7799916;8108407;8333869;8898077;9178750;9256435;9286700;9686347;9852088", "class_list": "", "function": "Emerging Roles of SIRT5 in Metabolism, Cancer, and SARS-CoV-2 Infection. Review article Publication Status: Online-Only, [RefSeq, PubMed]; NAD-dependent lysine demalonylase, desuccinylase and deglutarylase that specifically removes malonyl, succinyl and glutaryl groups on target proteins (PubMed:21908771, PubMed:22076378, PubMed:24703693, PubMed:29180469). Activates CPS1 and contributes to the regulation of blood ammonia levels during prolonged fasting: acts by mediating desuccinylation and deglutarylation of CPS1, thereby increasing CPS1 activity in response to elevated NAD levels during fasting (PubMed:22076378, PubMed:24703693). Activates SOD1 by mediating its desuccinylation, leading to reduced reactive oxygen species (PubMed:24140062). Activates SHMT2 by mediating its desuccinylation (PubMed:29180469). Modulates ketogenesis through the desuccinylation and activation of HMGCS2 (By similarity). Has weak NAD-dependent protein deacetylase activity; however this activity may not be physiologically relevant in vivo. Can deacetylate cytochrome c (CYCS) and a number of other proteins in vitro such as UOX., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, HAMAP, UniProtKB]; SIRT5 promote malignant advancement of chordoma by regulating the desuccinylation of c-myc. Publication Status: Online-Only, [RefSeq, PubMed]; SIRT5 rs12216101 T>G variant is associated with liver damage and mitochondrial dysfunction in patients with non-alcoholic fatty liver disease. Erratum:[J Hepatol. 2024 Feb;80(2):378. doi: 10.1016/j.jhep.2023.12.002. PMID: 38182533], [RefSeq, PubMed]; SIRT5-mediated PRKAA2 succinylation ameliorates apoptosis of human placental trophoblasts in hypertensive disorder complicating pregnancy., [RefSeq, PubMed]; Sirtuin 5-mediated deacetylation of TAZ at K54 promotes melanoma development., [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 III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "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": "B4DFM4;B4DYJ5;F5H5Z9;Q5T294;Q5T295;Q9Y6E6", "ec_number_list": [ { "id": "6.3.4.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.16", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:0036054 protein-malonyllysine demalonylase activity;GO:0036055 protein-succinyllysine desuccinylase activity;GO:0061697 protein-glutaryllysine deglutarylase activity;GO:0008270 zinc ion binding;GO:0070403 NAD+ binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0010566 regulation of ketone biosynthetic process;GO:0036046 protein demalonylation;GO:0036047 peptidyl-lysine demalonylation;GO:0036048 protein desuccinylation;GO:0036049 peptidyl-lysine desuccinylation", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9NXA8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHJ6-1", "uniprot_id": [ { "id": "SHPK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHJ6", "type": "external" } ], "mass": 51505.0, "length": 478, "protein_name": "Sedoheptulokinase", "gene_name": "SHPK", "organism": "Human", "refseq_name": "sedoheptulokinase", "refseq_ac": [ { "id": "NP_037408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037408", "type": "external" } ], "gene_names_uniprotkb": "SHPK; CARKL", "gene_names_refseq": "CARKL; SHK; SHPK", "protein_names_uniprotkb": "Sedoheptulokinase; 2.7.1.14; Carbohydrate kinase-like protein; SHK", "protein_names_refseq": "carbohydrate kinase-like protein; sedoheptulokinase", "tax_id": 9606, "disease": "isolated sedoheptulokinase deficiency (MONDO:MONDO:0014969)", "pathway": " (hsa:23729); (R-HSA-71336)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10518023;10673275;10869557;11283793;14988808;17585908;17804405;18186520;18560757;18775706;19679847;19913121;20628086;20923965;22682222;23481700;25229427;25418920;25647543;2581946;26929215;28063628;28218747;28446606;28832583;28834231;29242379;29331515;29393594;29632046;29769354;30315122;31154438;31848261;32161166;3932573;3994686;7396409;8300619;9357955;9920387", "class_list": "", "function": "Acts as a modulator of macrophage activation through control of glucose metabolism., [UniProtKB]; CARKL-dependent metabolic reprogramming is required for proper M1- and M2-like macrophage polarization, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The CARKL-encoded protein, sedoheptulokinase (SHK), is responsible for the reaction: sedoheptulose + ATP --> sedoheptulose-7-phosphate + ADP, and deletion of CARKL causes urinary accumulation of sedoheptulose and erythritol, [RefSeq, PubMed]; The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R640;Q8WUH3", "ec_number_list": [ { "id": "2.7.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.14", "type": "external" } ], "go_molecular_function": "GO:0050277 sedoheptulokinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0009052 pentose-phosphate shunt, non-oxidative branch;GO:0005975 carbohydrate metabolic process;GO:0071222 cellular response to lipopolysaccharide;GO:0006098 pentose-phosphate shunt;GO:0016310 phosphorylation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9UHJ6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQ13-1", "uniprot_id": [ { "id": "SHOC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQ13", "type": "external" } ], "mass": 64888.0, "length": 582, "protein_name": "Leucine-rich repeat protein SHOC-2", "gene_name": "SHOC2", "organism": "Human", "refseq_name": "leucine-rich repeat protein SHOC-2 isoform 2", "refseq_ac": [ { "id": "NP_001255968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001255968", "type": "external" } ], "gene_names_uniprotkb": "SHOC2; KIAA0862", "gene_names_refseq": "NSLH1; SHOC2; SIAA0862; SOC2; SUR8", "protein_names_uniprotkb": "Leucine-rich repeat protein SHOC-2; Protein soc-2 homolog; Protein sur-8 homolog", "protein_names_refseq": "leucine-rich repeat protein SHOC-2 isoform 2; soc-2 suppressor of clear homolog", "tax_id": 9606, "disease": "RASopathy (Disease Ontology:DOID:0080690); Noonan syndrome-like disorder with loose anagen hair (Disease Ontology:DOID:0080691); Noonan syndrome-like disorder with loose anagen hair 1 (Disease Ontology:DOID:0080692); atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:8036); (R-HSA-5673000); (R-HSA-9726840); (R-HSA-9726842)", "pathway_count": 4, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10205168;10712905;10783161;10891492;11032810;11237011;11325826;11494123;11741534;11756411;12244094;12551923;12932319;12932339;14530258;15035987;15258589;15467451;15710605;15711535;15899852;16041367;16093354;16294014;16301319;16364920;16508002;16537381;16630891;17097642;18294816;18662992;19049963;19158341;19541618;19684605;19727074;19933846;20068231;20674547;20820846;21209280;21441104;21441910;21779496;22592532;23360980;23481700;23524970;23863182;23906342;23918763;23993095;24121489;24211266;24347342;24366607;24715725;24937142;25137548;25576301;25645385;25892735;25907612;25965804;26154972;26343583;26992070;27264673;27466182;27543614;27846572;27920218;27999210;28082416;28218747;28228285;28289718;28411811;28514659;28666118;28832583;28834231;28855257;28904123;28984291;29242379;29331515;29383184;29393594;29437277;29461827;29508533;29557506;29632046;29632711;29786170;30315122;30348783;30368668;30410026;30784271;31059601;31108500;31154438;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33968037;33981976;34171305;34185709;34357683;34509645;35051231;35580925;35768504;35830882;35831509;36010968;36175670;36241641;36284347;37166421;37170083;37793491;37938771;38219533;7542586;7744815;8521512;8521513;8521514;8637718;8876196;8946910;9020159;9234708;9618511;9674433;9689060;9823899;9858547", "class_list": "", "function": "Aberrant N-myristoylation as a prelude to autoimmune manifestations in patients with SHOC2 mutations., [RefSeq, PubMed]; CircCPA4 induces malignant behaviors of prostate cancer via miR-491-5p/SHOC2 feedback loop. Publication Status: Online-Only, [RefSeq, PubMed]; Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates activation of the MAPK pathway. Acts as a scaffolding protein in the SMP complex. The SMP complex specifically dephosphorylates the inhibitory phosphorylation at 'Ser-259' of RAF1 kinase, 'Ser-365' of BRAF kinase and 'Ser-214' of ARAF kinase, stimulating their kinase activities. The SMP complex enhances the dephosphorylation activity and substrate specificity of PP1c., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Erbin has a regulatory role in the Ras-Raf-MEK pathway and may inhibit ERK activation by disrupting the Sur-8-Ras/Raf interaction, [RefSeq, PubMed]; LncRNA FALEC increases the proliferation, migration and drug resistance of cholangiocarcinoma through competitive regulation of miR-20a-5p/SHOC2 axis., [RefSeq, PubMed]; Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair., [RefSeq, PubMed]; SHOC2 mediates the drug-resistance of triple-negative breast cancer cells to everolimus., [RefSeq, PubMed]; This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 13, "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": "A8K9W8;B3KR23;O76063;Q5VZS8;Q5VZS9", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0008157 protein phosphatase 1 binding;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0071378 cellular response to growth hormone stimulus;GO:0010976 positive regulation of neuron projection development;GO:0035556 intracellular signal transduction;GO:0045665 negative regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q9UQ13-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y566-1", "uniprot_id": [ { "id": "SHAN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y566", "type": "external" } ], "mass": 224959.0, "length": 2161, "protein_name": "SH3 and multiple ankyrin repeat domains protein 1", "gene_name": "SHANK1", "organism": "Human", "refseq_name": "SH3 and multiple ankyrin repeat domains protein 1", "refseq_ac": [ { "id": "NP_057232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057232", "type": "external" } ], "gene_names_uniprotkb": "SHANK1", "gene_names_refseq": "SHANK1; SPANK-1; SSTRIP; synamon", "protein_names_uniprotkb": "SH3 and multiple ankyrin repeat domains protein 1; SSTR-interacting protein; SSTRIP; Shank1; Somatostatin receptor-interacting protein", "protein_names_refseq": "SH3 and multiple ankyrin repeat domains protein 1; SSTR-interacting protein; somatostatin receptor-interacting protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:50944); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10551867;10806096;11237011;11604393;12504591;15540461;16242404;16624946;16846852;16959974;17897391;18083107;18767875;18812509;18829961;19413330;20064387;20064388;20519524;21282647;23481700;24715725;25378172;25645385;28657654;29557506;30192525;31530632;31844290;32387766;33592498;33836029;33968037;34113010;34405274;35051231;35388181;36010968;39894887;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "A recurrent SHANK1 mutation implicated in autism spectrum disorder causes autistic-like core behaviors in mice via downregulation of mGluR1-IP3R1-calcium signaling. Erratum:[Mol Psychiatry. 2022 Sep;27(9):3922. doi: 10.1038/s41380-022-01605-8. PMID: 35538194], [RefSeq, PubMed]; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and Homer, respectively, and the actin-based cytoskeleton. Plays a role in the structural and functional organization of the dendritic spine and synaptic junction., [UniProtKB]; This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]., [RefSeq]; Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders., [RefSeq, PubMed]", "predicted_glycosites": 12, "predicted_n_glycosites": 0, "predicted_o_glycosites": 12, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A8MXP5;B7WNY6;Q9NYW9", "ec_number_list": [], "go_molecular_function": "GO:0031877 somatostatin receptor binding;GO:0017124 SH3 domain binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0042048 olfactory behavior;GO:0046959 habituation;GO:0050894 determination of affect;GO:0008306 associative learning;GO:0030534 adult behavior", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9Y566-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y675-1", "uniprot_id": [ { "id": "SNURF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y675", "type": "external" } ], "mass": 8412.0, "length": 71, "protein_name": "SNRPN upstream reading frame protein", "gene_name": "SNURF", "organism": "Human", "refseq_name": "SNURF protein", "refseq_ac": [ { "id": "NP_005669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005669", "type": "external" } ], "gene_names_uniprotkb": "SNURF", "gene_names_refseq": "SNURF", "protein_names_uniprotkb": "SNRPN upstream reading frame protein", "protein_names_refseq": "SNRPN upstream reading frame protein; SNURF protein", "tax_id": 9606, "disease": "Prader-Willi syndrome (Disease Ontology:DOID:11983); Angelman syndrome (Disease Ontology:DOID:1932); tauopathy (Disease Ontology:DOID:680)", "pathway": " (hsa:8926)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10318933;21227640;22679513;27862975;28554868;28904123;29493099;29557506;31844290;32157095;32502341;32938616;33298915;33912179;33936100;34171305;34509645;35318648;35580925;36241641;36284347;37938771", "class_list": "", "function": "A de novo 6.4 kb deletion at 15q11.2, containing exon 1 of the SNURF gene and exon 1 of the shortest isoform of the SNRPN gene was identified in a patient with Prader-Willi-like phenotype. DNA methylation analysis confirmed the paternal origin of the deletion., [RefSeq, PubMed]; Differences between genetic subtypes were also statistically significant in Prader Willi syndrome, [RefSeq, PubMed]; Significant IGF2 hypermethylation (20 +/- 10 vs. 14 +/- 7%; p<0.05) and SNURF hypomethylation (23 +/- 6 vs. 32 6%; p<0.001) was found in Albright's hereditary osteodystrophy patients vs. controls., [RefSeq, PubMed]; This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCW2", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016607 nuclear speck", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9Y675-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW10-1", "uniprot_id": [ { "id": "SFTA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW10", "type": "external" } ], "mass": 8396.0, "length": 78, "protein_name": "Surfactant-associated protein 2", "gene_name": "SFTA2", "organism": "Human", "refseq_name": "surfactant-associated protein 2 precursor", "refseq_ac": [ { "id": "NP_995326", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_995326", "type": "external" } ], "gene_names_uniprotkb": "SFTA2; PRO1098; SFTPG", "gene_names_refseq": "GSGL541; SFTA2; SFTPG; SP-G; UNQ541", "protein_names_uniprotkb": "Surfactant-associated protein 2; SP-G; Surfactant-associated protein G", "protein_names_refseq": "surfactant associated protein G; surfactant-associated protein 2 precursor; surfactant-associated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:389376)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;15340161;19851445;22768197;23094088;30032421;31844290;35580925", "class_list": "", "function": "A novel secretory surfactant protein SFTA2 is expressed in different tissues (lung, eyelid, kidney, and testis)and possesses surface-regulatory properties., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Putative surfactant protein., [UniProtKB]; SFTA2 was characterized as a novel unique secretory peptide highly expressed in the lung., [RefSeq, PubMed]; SP-G is a potential new cerebrospinal fluid (CSF) biomarker, possibly not only reflecting aspects of CNS innate immune responses, but also rheo-dynamically relevant changes of CSF composition., [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": 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": "A2ABK7;A2ACH1;B7ZCJ7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0030133 transport vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6UW10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCI5-1", "uniprot_id": [ { "id": "SIM16_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCI5", "type": "external" } ], "mass": 10419.0, "length": 91, "protein_name": "Putative transmembrane protein encoded by LINC00862", "gene_name": "LINC00862", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00862; C1orf98; SMIM16", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transmembrane protein encoded by LINC00862; Small integral membrane protein 16", "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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NCI5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHP3-1", "uniprot_id": [ { "id": "SPE2B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHP3", "type": "external" } ], "mass": 48290.0, "length": 402, "protein_name": "Speedy protein E2B", "gene_name": "SPDYE2B", "organism": "Human", "refseq_name": "speedy protein E2B", "refseq_ac": [ { "id": "NP_001159811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159811", "type": "external" } ], "gene_names_uniprotkb": "SPDYE2B", "gene_names_refseq": "SPDYE2B; SPDYE2L", "protein_names_uniprotkb": "Speedy protein E2B", "protein_names_refseq": "putative WBSCR19-like protein 3; putative speedy protein E2-like protein; speedy protein E2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:100310812)", "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": "D6RBN0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NHP3-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EX1-1", "uniprot_id": [ { "id": "SIM12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EX1", "type": "external" } ], "mass": 10799.0, "length": 92, "protein_name": "Small integral membrane protein 12", "gene_name": "SMIM12", "organism": "Human", "refseq_name": "small integral membrane protein 12", "refseq_ac": [ { "id": "NP_001158296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158296", "type": "external" } ], "gene_names_uniprotkb": "SMIM12; C1orf212", "gene_names_refseq": "C1orf212; SMIM12", "protein_names_uniprotkb": "Small integral membrane protein 12", "protein_names_refseq": "UPF0767 protein C1orf212; alternative protein C1orf212; small integral membrane protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:113444)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;16303743;27920218;28218747;28510447;28834231;29437277;30315122;31844290;32157095;32350084;33091337;33592498;33912179;33968037;34171305;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "D3DPR5;Q49AP7;Q52LP9;Q8NCB4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96EX1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15270-1", "uniprot_id": [ { "id": "SPTC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15270", "type": "external" } ], "mass": 62924.0, "length": 562, "protein_name": "Serine palmitoyltransferase 2", "gene_name": "SPTLC2", "organism": "Human", "refseq_name": "serine palmitoyltransferase 2", "refseq_ac": [ { "id": "NP_004854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004854", "type": "external" } ], "gene_names_uniprotkb": "SPTLC2; KIAA0526; LCB2", "gene_names_refseq": "HSN1C; LCB2A; LCB2; NSAN1C; SPT2; SPTLC2; hLCB2a", "protein_names_uniprotkb": "Serine palmitoyltransferase 2; 2.3.1.50; LCB 2; LCB2a; Long chain base biosynthesis protein 2a; Long chain base biosynthesis protein 2; SPT 2; Serine-palmitoyl-CoA transferase 2", "protein_names_refseq": "LCB 2; SPT 2; long chain base biosynthesis protein 2a; serine palmitoyltransferase 2; serine palmitoyltransferase, subunit II; serine-palmitoyl-CoA transferase 2", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy type 1C (Disease Ontology:DOID:0070157); hereditary sensory and autonomic neuropathy type 1 (Disease Ontology:DOID:0070162); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:9517); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 162, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11937514;12207934;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17081983;17331073;17355976;17449912;17591919;17982138;18165232;18165233;18184806;18991276;19005213;19233134;19416851;19506037;19648650;20061445;20110355;20182505;20504773;20920666;21620961;21994399;22517924;22544926;22898188;22970244;23180825;23481700;23602659;23658386;23754960;24569996;24714562;24715725;24782409;25418920;25567748;25576301;25645385;25788259;25892735;26154972;26375851;26573920;26681808;26728094;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28446606;28575652;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29563527;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30524438;30700557;30779550;30833945;30866134;30955194;31154438;31222486;31509666;31530632;31844290;31848261;31895563;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33558761;33558762;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34561969;35051231;35154160;35251023;35318648;35409383;35580925;36010968;36902339;36907437;36966328;37107689;37224812;37308477;37390971;37938771;38041679;38041684;38316966;38665916;40914422;4339164;4817756;7506601;8921873;9188692;9312549;9363775", "class_list": "glycogene", "function": "Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases (PubMed:19416851, PubMed:19648650, PubMed:20504773, PubMed:20920666). The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core (PubMed:19416851). The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference (PubMed:19416851). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851, PubMed:19648650). The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (PubMed:19416851, PubMed:19648650). Crucial for adipogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that SPTLC2 mutations are not a common cause for genetic sensory neuropathies., [RefSeq, PubMed]; SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis., [RefSeq, PubMed]; Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 648, "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": "Q16685", "ec_number_list": [ { "id": "2.3.1.50", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.50", "type": "external" } ], "go_molecular_function": "GO:0004758 serine C-palmitoyltransferase activity;GO:0030170 pyridoxal phosphate binding", "go_cellular_component": "GO:0017059 serine palmitoyltransferase complex;GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0006688 glycosphingolipid biosynthetic process;GO:0046513 ceramide biosynthetic process;GO:0060612 adipose tissue development;GO:0030148 sphingolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "O15270-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15477-1", "uniprot_id": [ { "id": "SKI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15477", "type": "external" } ], "mass": 137755.0, "length": 1246, "protein_name": "Superkiller complex protein 2", "gene_name": "SKIC2", "organism": "Human", "refseq_name": "superkiller complex protein 2", "refseq_ac": [ { "id": "NP_008860", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008860", "type": "external" } ], "gene_names_uniprotkb": "SKIC2; DDX13; SKI2W; SKIV2L; SKIV2; W", "gene_names_refseq": "170A; DDX13; HLP; SKI2W; SKI2; SKIC2; SKIV2L1; SKIV2L; SKIV2; THES2", "protein_names_uniprotkb": "Superkiller complex protein 2; 3.6.4.13; HLP; Helicase-like protein; Ski2", "protein_names_refseq": "SKI2 homolog, superkiller viralicidic activity 2-like; SKI2 subunit of superkiller complex protein; Ski2 like RNA helicase; helicase SKI2W; helicase-like protein; superkiller complex protein 2; superkiller viralicidic activity 2-like", "tax_id": 9606, "disease": "trichohepatoenteric syndrome 2 (Disease Ontology:DOID:0111416)", "pathway": " (hsa:6499); (R-HSA-390471); (R-HSA-429958)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "11237011;11283721;12502735;14749774;15068804;15231747;15273322;15345747;15475613;15769464;16024656;16141059;16959974;16964243;17081983;17174896;17245413;17322306;17545563;18088087;18212344;18441014;18452278;18578522;18669648;18691976;18707149;18767875;18775504;19011634;19060886;19225159;19239894;19413330;19415658;19615748;19651622;19664994;19664995;19691289;20058876;20068231;21098288;21406692;21995946;22444670;23186163;23223233;23301498;23481700;23747015;24275569;24366607;24715725;24756126;25342745;25418920;25467444;25576301;25645385;26154972;26728094;26811146;26992070;27397612;27431780;27600516;27846572;27920218;28204585;28218747;28228285;28446606;28510447;28832583;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29527791;29557506;29632711;29786170;30315122;30410026;30429286;31217245;31844290;32006463;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;34357683;34405274;34509645;35051231;35120588;35251023;35318648;35580925;36215666;36241641;36284347;37938771;40441874;7610041;7759100;8812450;9819444", "class_list": "", "function": "DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]., [RefSeq]; Helicase component of the SKI complex, a multiprotein complex that assists the RNA-degrading exosome during the mRNA decay and quality-control pathways (PubMed:16024656, PubMed:32006463, PubMed:35120588). The SKI complex catalyzes mRNA extraction from 80S ribosomal complexes in the 3'-5' direction and channels mRNA to the cytosolic exosome for degradation (PubMed:32006463, PubMed:35120588). SKI-mediated extraction of mRNA from stalled ribosomes allow binding of the Pelota-HBS1L complex and subsequent ribosome disassembly by ABCE1 for ribosome recycling (PubMed:32006463). In the nucleus, the SKI complex associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C) (PubMed:16024656). May play a role in the non-stop mRNA decay pathway (NSD), which specifically targets and degrades mRNAs that lack a proper stop codon (PubMed:40441874)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment. 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": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O15005;Q12902;Q15476;Q5ST66", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0034458 3'-5' RNA helicase activity;GO:0003724 RNA helicase activity", "go_cellular_component": "GO:0055087 Ski complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0070478 nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay;GO:0070481 nuclear-transcribed mRNA catabolic process, non-stop decay;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q15477-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75324-1", "uniprot_id": [ { "id": "SNN_HUMAN", "url": "https://www.uniprot.org/uniprot/O75324", "type": "external" } ], "mass": 9497.0, "length": 88, "protein_name": "Stannin", "gene_name": "SNN", "organism": "Human", "refseq_name": "stannin", "refseq_ac": [ { "id": "NP_003489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003489", "type": "external" } ], "gene_names_uniprotkb": "SNN", "gene_names_refseq": "SNN", "protein_names_uniprotkb": "Stannin; AG8_1", "protein_names_refseq": "AG8_1; hemotin; stannin", "tax_id": 9606, "disease": "", "pathway": " (hsa:8303)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10233894;15269288;15345747;16246365;19664994;27015288;29058661;29242379;32350084;33936100;39894887;9657854", "class_list": "", "function": "Plays a role in the toxic effects of organotins (PubMed:15269288). Plays a role in endosomal maturation (PubMed:27015288)., [UniProtKB, PubMed, PubMed]; The authors show that stannin interacts with human papillomavirus 16 L1 major capsid protein and impairs the interaction of the L2 minor capsid protein with retromer, which is required for virus trafficking to the trans-Golgi network., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DUG4;Q6FGI0", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane", "go_biological_process": "GO:0009636 response to toxic substance", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O75324-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95969-1", "uniprot_id": [ { "id": "SG1D2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95969", "type": "external" } ], "mass": 9925.0, "length": 90, "protein_name": "Secretoglobin family 1D member 2", "gene_name": "SCGB1D2", "organism": "Human", "refseq_name": "secretoglobin family 1D member 2 precursor", "refseq_ac": [ { "id": "NP_006542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006542", "type": "external" } ], "gene_names_uniprotkb": "SCGB1D2; LIPHB; LPNB", "gene_names_refseq": "LIPB; LPHB; LPNB; SCGB1D2", "protein_names_uniprotkb": "Secretoglobin family 1D member 2; Lipophilin-B", "protein_names_refseq": "lipophilin-B; prostatein-like lipophilin B; secretoglobin family 1D member 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10647)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10066439;12576445;15668787;23819652;24603286;26375851;31154438;33692257;35051231;38503741", "class_list": "", "function": "Lipophilin B gene overexpression correlates with a less aggressive tumor phenotype and represents a novel ovarian carcinoma prognostic factor Publication Status: Online-Only, [RefSeq, PubMed]; May bind androgens and other steroids, may also bind estramustine, a chemotherapeutic agent used for prostate cancer. May be under transcriptional regulation of steroid hormones., [UniProtKB]; SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease. Publication Status: Online-Only, [RefSeq, PubMed]; Serum antibodies to this protein are detected in late stage breast cancer patients., [RefSeq, PubMed]; The data indicate that MGB1, MGB2 and LIPB mRNAs are expressed at low levels in human tissues but basal expression is upregulated in ovarian cancer., [RefSeq, PubMed]; The present report demonstrates, for the first time, lipophilin B expression in the pituitary and its apparent down-regulation in pituitary adenomas., [RefSeq, PubMed]; The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]., [RefSeq]; [Measurement of PODXL and SCGB1D2 for detecting intraductal papillary mucinous neoplasm]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q2M3N9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "O95969-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJ93-1", "uniprot_id": [ { "id": "SIM13_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJ93", "type": "external" } ], "mass": 10351.0, "length": 91, "protein_name": "Small integral membrane protein 13", "gene_name": "SMIM13", "organism": "Human", "refseq_name": "small integral membrane protein 13", "refseq_ac": [ { "id": "NP_001129047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129047", "type": "external" } ], "gene_names_uniprotkb": "SMIM13; C6orf228", "gene_names_refseq": "C6orf228; SMIM13", "protein_names_uniprotkb": "Small integral membrane protein 13", "protein_names_refseq": "UPF0766 protein C6orf228; small integral membrane protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:221710)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;31154438", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V581", "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": "P0DJ93-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMW4-1", "uniprot_id": [ { "id": "SIL2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMW4", "type": "external" } ], "mass": 8389.0, "length": 78, "protein_name": "Small integral membrane protein 10-like protein 2A", "gene_name": "SMIM10L2A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SMIM10L2A; LINC00086; NCRNA00086", "gene_names_refseq": "", "protein_names_uniprotkb": "Small integral membrane protein 10-like protein 2A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:399668); (hsa:644596)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "32387766;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": "P0DMW4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11277-1", "uniprot_id": [ { "id": "SPTB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P11277", "type": "external" } ], "mass": 246468.0, "length": 2137, "protein_name": "Spectrin beta chain, erythrocytic", "gene_name": "SPTB", "organism": "Human", "refseq_name": "spectrin beta chain, erythrocytic isoform a", "refseq_ac": [ { "id": "NP_001020029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020029", "type": "external" } ], "gene_names_uniprotkb": "SPTB; SPTB1", "gene_names_refseq": "EL3; HS2; HSPTB1; SPH2; SPTB", "protein_names_uniprotkb": "Spectrin beta chain, erythrocytic; Beta-I spectrin", "protein_names_refseq": "Sp beta; beta-I spectrin; erythrocytic spectrin beta chain; membrane cytoskeletal protein; spectrin beta Tandil; spectrin beta chain, erythrocyte; spectrin beta chain, erythrocytic isoform a; spectrin beta chain, erythrocytic", "tax_id": 9606, "disease": "spinocerebellar ataxia 5 (Disease Ontology:DOID:0050882); hereditary spherocytosis type 2 (Disease Ontology:DOID:0110917); hereditary spherocytosis (Disease Ontology:DOID:12971); elliptocytosis 3 (MONDO:MONDO:0054780)", "pathway": " (hsa:6710); (R-HSA-375165); (R-HSA-445095); (R-HSA-5673001); (R-HSA-6807878)", "pathway_count": 5, "publication_count": 238, "publication_id_list": "10052452;10318838;10445031;10508167;10559959;10679020;10761932;10869344;10903204;10921873;11027663;11035033;11090077;11136978;11172815;11222639;11237011;11285137;11306556;11313946;11461920;11546808;11689559;11702783;11703931;11726511;11748249;12032311;12047556;12070132;12094235;12121613;12388752;12634853;12665801;12700044;14506247;14654841;14707138;14742712;15037235;15062087;15065869;15238148;15356145;1545823;15546878;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16597699;16627759;16633337;16684964;16723730;1680566;16904324;16912714;16926190;16940185;1716764;17223356;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;17998941;18086915;18160138;18182008;18283113;1840591;18452278;18524849;18775330;18809720;18984734;1898771;1898986;19015319;19109418;19164740;19279408;19296914;19538529;1957170;19631211;19651622;1975598;19758564;1976574;19920141;20058876;20357002;20427317;20478380;2056132;20637885;21102635;21219331;21372320;21689688;21779497;21779505;21844168;2195026;21993244;22013193;22094269;22304919;2243099;22569528;22589270;22750304;23103841;23186163;23303910;23443682;23481700;23575685;23839779;24119662;24275569;24715725;24806965;24897931;24937142;25219551;25418920;25436559;25469497;25492864;25576301;25645385;25781681;26085527;26154972;26375851;27600516;27846572;27862975;27869121;27893789;27920218;2809592;28218747;28402104;28411811;28778966;28832583;28904123;29242379;29393594;29459732;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30429286;31135801;31844290;32157095;32357974;32387766;32502341;33141586;33298915;33592498;33633747;3390609;33968037;34087483;34171305;3478706;35051231;35580925;36010968;36284347;36765497;36854399;37217939;6148751;6472478;7691276;7809086;7883966;7935463;7972015;7997267;8001155;8018926;8052307;8102379;8128252;8132710;8221884;8226774;8253837;8394845;8493579;8505331;8620540;8636227;8665852;8710374;8844207;8939933;8991093;9005995;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9604935;9671725;9687510;9751720;9927426;9990005", "class_list": "", "function": "Spectrin is the major constituent of the cytoskeletal network underlying the erythrocyte plasma membrane. It associates with band 4.1 and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane., [UniProtKB]; This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]., [RefSeq]; [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis]., [RefSeq, PubMed]; [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q15510;Q15519", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0051015 actin filament binding;GO:0030506 ankyrin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:0030036 actin cytoskeleton organization;GO:0008360 regulation of cell shape;GO:0051693 actin filament capping", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "P11277-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100100000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49223-1", "uniprot_id": [ { "id": "SPIT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P49223", "type": "external" } ], "mass": 10252.0, "length": 89, "protein_name": "Kunitz-type protease inhibitor 3", "gene_name": "SPINT3", "organism": "Human", "refseq_name": "kunitz-type protease inhibitor 3 precursor", "refseq_ac": [ { "id": "NP_006643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006643", "type": "external" } ], "gene_names_uniprotkb": "SPINT3", "gene_names_refseq": "HKIB9; SPINT3", "protein_names_uniprotkb": "Kunitz-type protease inhibitor 3; HKIB9", "protein_names_refseq": "kunitz-type protease inhibitor 3 precursor; kunitz-type protease inhibitor 3; serine protease inhibitor, Kunitz type, 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10816)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "17589793", "class_list": "", "function": "Identifies genes on chromosome 20q12-13.1, including the gene encoding this kunitz domain-containing serine protease inhibitor. 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": 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": "A6NCQ6;Q6UDR8;Q96KK2", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P49223-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55000-1", "uniprot_id": [ { "id": "SLUR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P55000", "type": "external" } ], "mass": 11186.0, "length": 103, "protein_name": "Secreted Ly-6/uPAR-related protein 1", "gene_name": "SLURP1", "organism": "Human", "refseq_name": "secreted Ly-6/uPAR-related protein 1 precursor", "refseq_ac": [ { "id": "NP_065160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065160", "type": "external" } ], "gene_names_uniprotkb": "SLURP1; ARS", "gene_names_refseq": "ANUP; ARS; ArsB; LY6-MT; LY6LS; MDM; SLURP1", "protein_names_uniprotkb": "Secreted Ly-6/uPAR-related protein 1; ANUP; ARS component B; ARS(component B)-81/S; Anti-neoplastic urinary protein; SLURP-1", "protein_names_refseq": "ARS(component B)-81/S; SLURP-1; anti-neoplastic urinary protein; lymphocyte antigen 6-like secreted; secreted Ly-6/uPAR-related protein 1 precursor; secreted Ly-6/uPAR-related protein 1; secreted Ly6/uPAR related protein 1", "tax_id": 9606, "disease": "mal de Meleda (Disease Ontology:DOID:0060862); palmoplantar keratosis (Disease Ontology:DOID:3390)", "pathway": " (hsa:57152)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10211827;11285253;12483299;12950349;14506129;14721776;14756676;16354194;17008884;17286989;19120323;20621062;21690549;23581991;24604124;25168896;25919322;26905431;33019770;33741389;34721415;37393290;8742060", "class_list": "", "function": "Biochemical Basis of Skin Disease Mal de Meleda: SLURP-1 Mutants Differently Affect Keratinocyte Proliferation and Apoptosis., [RefSeq, PubMed]; Endogenous alpha7 nAChR Agonist SLURP1 Facilitates Escherichia coli K1 Crossing the Blood-Brain Barrier. Publication Status: Online-Only, [RefSeq, PubMed]; Has an antitumor activity (PubMed:8742060). Was found to be a marker of late differentiation of the skin. Implicated in maintaining the physiological and structural integrity of the keratinocyte layers of the skin (PubMed:14721776, PubMed:17008884). In vitro down-regulates keratinocyte proliferation; the function may involve the proposed role as modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro inhibits alpha-7-dependent nAChR currents in an allosteric manner (PubMed:14506129, PubMed:26905431). In T cells may be involved in regulation of intracellular Ca(2+) signaling (PubMed:17286989). Seems to have an immunomodulatory function in the cornea (By similarity). The function may implicate a possible role as a scavenger receptor for PLAU thereby blocking PLAU-dependent functions of PLAUR such as in cell migration and proliferation (PubMed:25168896)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda. Publication Status: Online-Only, [RefSeq, PubMed]; Our findings indicate that the MDM type of transgressive PPK is caused by SLURP-1 mutations in patients from various origins and demonstrate allelic heterogeneity for mutations in SLURP-1., [RefSeq, PubMed]; Structural Diversity and Dynamics of Human Three-Finger Proteins Acting on Nicotinic Acetylcholine Receptors. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53YJ6;Q6PUA6;Q92483", "ec_number_list": [], "go_molecular_function": "GO:0030549 acetylcholine receptor activator activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0038195 urokinase plasminogen activator signaling pathway;GO:0007155 cell adhesion;GO:0008285 negative regulation of cell population proliferation;GO:0030336 negative regulation of cell migration;GO:0001775 cell activation", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P55000-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55822-1", "uniprot_id": [ { "id": "SH3BG_HUMAN", "url": "https://www.uniprot.org/uniprot/P55822", "type": "external" } ], "mass": 26086.0, "length": 239, "protein_name": "SH3 domain-binding glutamic acid-rich protein", "gene_name": "SH3BGR", "organism": "Human", "refseq_name": "SH3 domain-binding glutamic acid-rich protein isoform b", "refseq_ac": [ { "id": "NP_001001713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001713", "type": "external" } ], "gene_names_uniprotkb": "SH3BGR", "gene_names_refseq": "21-GARP; SH3BGR", "protein_names_uniprotkb": "SH3 domain-binding glutamic acid-rich protein; 21-GARP; 21-glutamic acid-rich protein; SH3BGR protein", "protein_names_refseq": "SH3 domain-binding glutamic acid-rich protein isoform b; SH3 domain-binding glutamic acid-rich protein; SH3-binding domain and glutamic acid-rich protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6450)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;20532202;27100087;30429286;32938616;33592498;33981976;35580925;9050928", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; RNA-seq evidence of biallelic expression of SH3BGR and 10 neighboring genes in at least one primary human tissue tested indicates that the expression of SH3BGR is uncoupled from the control of the maternally inherited 5mCpG imprints at the WRB differentially methylated region (DMR) in disomic controls or trisomy (Down syndrome) individuals. 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": "A6ND59;D3DSI2;Q9BRB8", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P55822-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P81133-1", "uniprot_id": [ { "id": "SIM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P81133", "type": "external" } ], "mass": 85515.0, "length": 766, "protein_name": "Single-minded homolog 1", "gene_name": "SIM1", "organism": "Human", "refseq_name": "single-minded homolog 1", "refseq_ac": [ { "id": "NP_005059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005059", "type": "external" } ], "gene_names_uniprotkb": "SIM1; BHLHE14", "gene_names_refseq": "SIM1; bHLHe14", "protein_names_uniprotkb": "Single-minded homolog 1; Class E basic helix-loop-helix protein 14; bHLHe14", "protein_names_refseq": "class E basic helix-loop-helix protein 14; single-minded family bHLH transcription factor 1; single-minded homolog 1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6492)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "14697214;28832583;29063719;29242379;29557506;30297428;30379171;30779550;31154438;32157095;32932609;35051231;38532463;40136647;9199934", "class_list": "", "function": "SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs. SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; SIM1 is part of the leptin-melanocortin system., [RefSeq, PubMed]; SIM1 was highly methylated in the majority of the cervical cancer tissues. Hypermethylation of SIM1 led to a pronounced reduction in SIM1 expression in cervical cancer tissues compared with normal cervix. The degree of SIM1 methylation was significantly associated with the severity of the disease., [RefSeq, PubMed]; STIM1/SOX2 proteins are co-expressed in the tumor and microenvironmental stromal cells of pancreatic ductal adenocarcinoma and ampullary carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult., [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": 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": "Q5TDP7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0001657 ureteric bud development", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P81133-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08AF3-1", "uniprot_id": [ { "id": "SLFN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08AF3", "type": "external" } ], "mass": 101055.0, "length": 891, "protein_name": "Schlafen family member 5", "gene_name": "SLFN5", "organism": "Human", "refseq_name": "schlafen family member 5 isoform 1", "refseq_ac": [ { "id": "NP_659412", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659412", "type": "external" } ], "gene_names_uniprotkb": "SLFN5", "gene_names_refseq": "SLFN5", "protein_names_uniprotkb": "Schlafen family member 5", "protein_names_refseq": "schlafen family member 5 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:162394)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "20956525;24366607;24715725;25576301;26012550;26154972;27032393;27655845;27846572;28671669;28904123;29351928;29493099;29557506;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32488136;32897882;32938616;32983136;33141586;33298915;33432153;33592498;33846574;33912179;33968037;33981976;33985973;34171305;34357683;34405274;34932366;35051231;35318648;35494241;35580925;35687115;36010968;36284347;37938771;40596516", "class_list": "", "function": "Comparative proteomics identifies Schlafen 5 (SLFN5) as a herpes simplex virus restriction factor that suppresses viral transcription., [RefSeq, PubMed]; Human Schlafen 5 regulates reversible epithelial and mesenchymal transitions in breast cancer by suppression of ZEB1 transcription., [RefSeq, PubMed]; In this study population, elevated SLFN5 protein expression in patients with intestinal metaplasia correlated with progression to gastric cancer, [RefSeq, PubMed]; May have a role in hematopoietic cell differentiation., [UniProtKB]; SLFN5 Regulates LAT1-Mediated mTOR Activation in Castration-Resistant Prostate Cancer., [RefSeq, PubMed]; SLFN5 exhibits key roles in controlling motility and invasiveness of renal cell carcinoma cells by negatively controlling expression of MMP-1, MMP-13, and several other genes involved in the control of malignant cell motility., [RefSeq, PubMed]; SLFN5 knockdown also resulted in increased invasion in three-dimensional collagen, suggesting a dual role for SLFN5 in the regulation of invasion and anchorage-independent growth of melanoma cells., [RefSeq, PubMed]; Schlafen 5 as a novel therapeutic target in pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; Schlafen 5 suppresses human immunodeficiency virus type 1 transcription by commandeering cellular epigenetic machinery., [RefSeq, PubMed]; Type-I IFN treatment triggers the interaction of STAT1 with SLFN5, and the resulting complex negatively controls STAT1-mediated gene transcription via interferon stimulated response elements, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 25, "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": "Q08AF2;Q8WU54;Q96A82", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0004540 RNA nuclease activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0030154 cell differentiation;GO:0016075 rRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q08AF3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1XH10-1", "uniprot_id": [ { "id": "SKDA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1XH10", "type": "external" } ], "mass": 98148.0, "length": 908, "protein_name": "SKI/DACH domain-containing protein 1", "gene_name": "SKIDA1", "organism": "Human", "refseq_name": "SKI/DACH domain-containing protein 1", "refseq_ac": [ { "id": "NP_997254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997254", "type": "external" } ], "gene_names_uniprotkb": "SKIDA1; C10orf140; DLN1", "gene_names_refseq": "C10orf140; DLN-1; SKIDA1", "protein_names_uniprotkb": "SKI/DACH domain-containing protein 1; Protein DLN-1", "protein_names_refseq": "SKI/DACH domain-containing protein 1; protein DLN-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:387640)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "19913121;20628086;29242379;29557506;31154438;31844290;32387766;33912179;34171305;34357683;35051231", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B1ANA5;E9PAX1;F5H7M0;Q6ZMX4;Q8N3C3", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q1XH10-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3C7-1", "uniprot_id": [ { "id": "SPKAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3C7", "type": "external" } ], "mass": 186456.0, "length": 1700, "protein_name": "A-kinase anchor protein SPHKAP", "gene_name": "SPHKAP", "organism": "Human", "refseq_name": "A-kinase anchor protein SPHKAP isoform 1", "refseq_ac": [ { "id": "NP_001136116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136116", "type": "external" } ], "gene_names_uniprotkb": "SPHKAP; KIAA1678; SKIP", "gene_names_refseq": "SKIP; SPHKAP", "protein_names_uniprotkb": "A-kinase anchor protein SPHKAP; SPHK1-interactor and AKAP domain-containing protein; Sphingosine kinase type 1-interacting protein", "protein_names_refseq": "A-kinase anchor protein SPHKAP isoform 1; A-kinase anchor protein SPHKAP; SPHK1 (sphingosine kinase type 1) interacting protein; SPHK1-interactor and AKAP domain-containing protein; sphingosine kinase type 1-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80309)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "12080051;15485866;17164439;17325258;18055454;20394097;22084075;22479372;28228285;28411811;29557506;29632711;31717259;31844290;32161116;33797381;35051231;35580925;36215666;37938771", "class_list": "", "function": "Anchoring protein that binds preferentially to the type I regulatory subunit of c-AMP-dependent protein kinase (PKA type I) and targets it to distinct subcellular compartments. May act as a converging factor linking cAMP and sphingosine signaling pathways. Plays a regulatory role in the modulation of SPHK1., [UniProtKB, PubMed, PubMed]; Cloning and characterization; results indicate that SKIP is a novel protein likely to play a regulatory role in the modulation of sphingosine kinase type 1 (SPHK1) activity, [RefSeq, PubMed]; Experiments demonstrate that sphingosine kinase 1/sphingosine-1-phosphate are important components of the transforming growth factor-beta signaling pathway involved in up-regulation of the tissue inhibitor of metalloproteinase-1 (TIMP-1), [RefSeq, PubMed]; HIF-1 and HIF-2 have roles in SK1 upregulation during hypoxia in glioma cells, [RefSeq, PubMed]; Hyperglycemia stimulates SK1 activity via protein kinase C and oxidative stress-dependent pathways, leading to decreased apoptosis in vvascular smooth muscle., [RefSeq, PubMed]; Repression of sphingosine kinase (SK)-interacting protein (SKIP) in acute myeloid leukemia diminishes SK activity and its re-expression restores SK function., [RefSeq, PubMed]; Results showed that DPP6, SPHKAP and ID4 were down regulated in acute myeloid leukemia (AML) patients., [RefSeq, PubMed]; SKIP is an entirely specific type I A-kinase anchoring protein that can sequester two molecules of protein kinase A at mitochondria., [RefSeq, PubMed]; SphK1 Promotes Cancer Progression through Activating JAK/STAT Pathway and Up-Regulating S1PR1 Expression in Colon Cancer Cells., [RefSeq, PubMed]; Uterine expression of SphK1 mediates processes involved in growth and differentiation of uterine tissues during pregnancy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q68DA3;Q68DR8;Q9C0I5", "ec_number_list": [], "go_molecular_function": "GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q2M3C7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MJ09-1", "uniprot_id": [ { "id": "SPXN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MJ09", "type": "external" } ], "mass": 15580.0, "length": 141, "protein_name": "Sperm protein associated with the nucleus on the X chromosome N3", "gene_name": "SPANXN3", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome N3", "refseq_ac": [ { "id": "NP_001009609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009609", "type": "external" } ], "gene_names_uniprotkb": "SPANXN3", "gene_names_refseq": "CT11.8; SPANX-N3; SPANXN3", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome N3; Nuclear-associated protein SPAN-Xn3; SPANX family member N3; SPANX-N3", "protein_names_refseq": "cancer/testis antigen family 11, member 8; nuclear-associated protein SPAN-Xn3; sperm protein associated with the nucleus on the X chromosome N3", "tax_id": 9606, "disease": "", "pathway": " (hsa:139067)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "14973187;16251457;34019948", "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": 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": "Q0ZNK4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5MJ09-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TAH2-1", "uniprot_id": [ { "id": "SL9C2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TAH2", "type": "external" } ], "mass": 129053.0, "length": 1124, "protein_name": "Sodium/hydrogen exchanger 11", "gene_name": "SLC9C2", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 11", "refseq_ac": [ { "id": "NP_848622", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848622", "type": "external" } ], "gene_names_uniprotkb": "SLC9C2; SLC9A11", "gene_names_refseq": "NHE11; SLC9A11; SLC9C2", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 11; NHE-11; Na(+)/H(+) exchanger 11; Solute carrier family 9 member 11; Solute carrier family 9 member C2", "protein_names_refseq": "NHE-11; Na(+)/H(+) exchanger 11; sodium/hydrogen exchanger 11; solute carrier family 9, member 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:284525); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;24715725;2536303;26359375;26562072;28071645;28154142;28790369;29557506;33537174;33981976;34171305;35051231;35494241;35580925;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Involved in pH regulation., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 49, "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": "Q86UF3", "ec_number_list": [], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0051453 regulation of intracellular pH;GO:0071805 potassium ion transmembrane transport;GO:0098719 sodium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q5TAH2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UDR6-1", "uniprot_id": [ { "id": "SPIT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UDR6", "type": "external" } ], "mass": 11421.0, "length": 99, "protein_name": "Kunitz-type protease inhibitor 4", "gene_name": "SPINT4", "organism": "Human", "refseq_name": "kunitz-type protease inhibitor 4 precursor", "refseq_ac": [ { "id": "NP_848550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848550", "type": "external" } ], "gene_names_uniprotkb": "SPINT4; C20orf137", "gene_names_refseq": "C20orf137; SPINT4; dJ601O1.1", "protein_names_uniprotkb": "Kunitz-type protease inhibitor 4", "protein_names_refseq": "epididymis secretory sperm binding protein; kunitz-type protease inhibitor 4 precursor; kunitz-type protease inhibitor 4; serine protease inhibitor, Kunitz type 1; serine protease inhibitor, Kunitz type 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:391253)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "21536719;29351928;29393594", "class_list": "", "function": "We propose that the evolution of WFDC8 and SPINT4 has been shaped by complex selective scenarios due to the interdependence of variant fitness and ecological variables., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQN3", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6UDR6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5L4-1", "uniprot_id": [ { "id": "SPT19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5L4", "type": "external" } ], "mass": 19186.0, "length": 167, "protein_name": "Spermatogenesis-associated protein 19, mitochondrial", "gene_name": "SPATA19", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 19, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001278921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278921", "type": "external" } ], "gene_names_uniprotkb": "SPATA19; SPERGEN1", "gene_names_refseq": "CT132; SPAS1; SPATA19; spergen1", "protein_names_uniprotkb": "Spermatogenesis-associated protein 19, mitochondrial; Spergen-1; Spermatogenic cell-specific gene 1 protein", "protein_names_refseq": "cancer/testis antigen 132; spergen-1; spermatogenesis-associated protein 19, mitochondrial precursor; spermatogenesis-associated protein 19, mitochondrial; spermatogenic cell-specific gene 1 protein; spermatogenic specific-gene1; testis secretory sperm-binding protein Li 243mP", "tax_id": 9606, "disease": "", "pathway": " (hsa:219938)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12688595;15302935;17081983;18491316;19886887;20682177;28972294", "class_list": "", "function": "Essential for sperm motility and male fertility (By similarity). Plays an important role in sperm motility by regulating the organization and function of the mitochondria and is also required for correct sperm midpiece assembly (By similarity)., [UniProtKB, UniProtKB]; Investigated SPATA19 protein expression patterns in a panel of non-malignant samples and primary prostate cancer with or without benign prostatic hyperplasia tissues. SPATA19 was absent in all non-malignant tissues investigated (n=14) except testis and prostate tissues., [RefSeq, PubMed]; Of the prostate cancer samples, 10, 10, 23 and 40% showed ODF1, ODF2, LEMD1 and SPATA19 specific bands, respectively, but none of the BPH samples expressed any of these genes., [RefSeq, PubMed]; The SPATA19 and TEX101 genes may be possible targets for cancer immunotherapy and novel markers for early detection of 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N7A9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0036126 sperm flagellum;GO:0097225 sperm midpiece", "go_biological_process": "GO:0030382 sperm mitochondrion organization;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7Z5L4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWX5-1", "uniprot_id": [ { "id": "SGPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWX5", "type": "external" } ], "mass": 44741.0, "length": 399, "protein_name": "Sphingosine-1-phosphate phosphatase 2", "gene_name": "SGPP2", "organism": "Human", "refseq_name": "sphingosine-1-phosphate phosphatase 2 isoform b", "refseq_ac": [ { "id": "NP_001307762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307762", "type": "external" } ], "gene_names_uniprotkb": "SGPP2", "gene_names_refseq": "SGPP2; SPP2; SPPase2", "protein_names_uniprotkb": "Sphingosine-1-phosphate phosphatase 2; 3.1.3.-; SPPase2; Sphingosine-1-phosphatase 2; Spp2; hSPP2", "protein_names_refseq": "sphingosine 1-phosphate phosphohydrolase 2; sphingosine-1-phosphatase 2; sphingosine-1-phosphate phosphatase 2 isoform b; sphingosine-1-phosphate phosphotase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:130367); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "11018465;11356846;12411432;12815058;16782891;16940153;17113265;17379599;17382292;17713573;18558101;18619555;20068046;20089856;20699116;23721920;24274704;24715725;25286108;25576301;26154972;27059959;27126290;27846572;29229990;29557506;30090628;30315122;30410026;30575723;30635364;30833945;31217245;31530632;31844290;31848261;31916624;32265295;32357974;32387766;32502341;33141586;33298915;33691108;33717175;33912179;33936100;34211107;34561969;34932366;35051231;35580925;36284347;36581221;9705349", "class_list": "glycogene", "function": "Characterization of SPP2, another member of the SPP family that may play a role in attenuating intracellular S1P signaling., [RefSeq, PubMed]; Has specific phosphohydrolase activity towards sphingoid base 1-phosphates. Has high phosphohydrolase activity against dihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P) in vitro (PubMed:12411432). Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway (By similarity). May play a role in attenuating intracellular sphingosine 1-phosphate (S1P) signaling. May play a role in pro-inflammatory signaling (PubMed:17113265). Plays a role in the regulation of pancreatic islet beta-cell endoplasmic reticulum stress and proliferation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed]; SGPP2, a sphingosine-1-phosphate phosphatase, is a novel vitamin D-responsive gene associated with lung function. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane protein that degrades the bioactive signaling molecule sphingosine 1-phosphate. The encoded protein is induced during inflammatory responses and has been shown to be downregulated by the microRNA-31 tumor suppressor. Alternative splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]., [RefSeq]; This study provides detailed insights into the regulation of SPP2 gene expression and suggests that SPP2 might be a novel player in pro-inflammatory signalling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 450, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KPB4;Q8N8Q6", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "3.1.3.106", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.106", "type": "external" }, { "id": "3.6.1.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.75", "type": "external" } ], "go_molecular_function": "GO:0070780 dihydrosphingosine-1-phosphate phosphatase activity;GO:0042392 sphingosine-1-phosphate phosphatase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006670 sphingosine metabolic process;GO:0030149 sphingolipid catabolic process;GO:0061469 regulation of type B pancreatic cell proliferation;GO:0046839 phospholipid dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8IWX5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFV5-1", "uniprot_id": [ { "id": "SPDE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFV5", "type": "external" } ], "mass": 40668.0, "length": 336, "protein_name": "Speedy protein E1", "gene_name": "SPDYE1", "organism": "Human", "refseq_name": "speedy protein E1 isoform 2", "refseq_ac": [ { "id": "NP_778234", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_778234", "type": "external" } ], "gene_names_uniprotkb": "SPDYE1; WBSCR19", "gene_names_refseq": "Ringo1; SPDYB2L2; SPDYE1; SPDYE; WBSCR19", "protein_names_uniprotkb": "Speedy protein E1; Williams-Beuren syndrome chromosomal region 19 protein", "protein_names_refseq": "Speedy E; Williams Beuren syndrome chromosome region 19 protein; putative WBSCR19-like protein 6; speedy homolog E1; speedy protein E1 isoform 2; speedy protein E1; williams-Beuren syndrome chromosomal region 19 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:285955)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;12073013;22763696", "class_list": "", "function": "This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]., [RefSeq]; This paper mentioned accessions 'AF412025-2035' and 'WBSCR16-WBSCR23', but AF412027 and WBSCR19 were not discussed in this paper, and the WBSCR19 information is not available from this paper., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q9NTH5", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NFV5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF72-1", "uniprot_id": [ { "id": "SHRM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF72", "type": "external" } ], "mass": 216857.0, "length": 1996, "protein_name": "Protein Shroom3", "gene_name": "SHROOM3", "organism": "Human", "refseq_name": "protein Shroom3", "refseq_ac": [ { "id": "NP_065910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065910", "type": "external" } ], "gene_names_uniprotkb": "SHROOM3; KIAA1481; MSTP013; SHRML", "gene_names_refseq": "APXL3; MSTP013; SHRM; SHROOM3; ShrmL", "protein_names_uniprotkb": "Protein Shroom3; Shroom-related protein; hShrmL", "protein_names_refseq": "F-actin-binding protein; protein Shroom3; shroom-related protein", "tax_id": 9606, "disease": "chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:57619)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;16615870;17081983;18212344;18220336;18669648;19413330;19430482;19651622;20068231;21406692;22493320;23186163;24275569;25576301;25645385;25892735;26992070;27846572;28514659;28832583;29242379;29331515;29476007;29508533;29557506;29769354;30341149;31154438;31530632;31844290;32157095;32265040;32488085;32621286;32938616;33592498;33968037;33981976;34087483;34932366;35051231;35580925;36010968;36241641;36284347;37217939", "class_list": "", "function": "A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate., [RefSeq, PubMed]; Controls cell shape changes in the neuroepithelium during neural tube closure. Induces apical constriction in epithelial cells by promoting the apical accumulation of F-actin and myosin II, and probably by bundling stress fibers (By similarity). Induces apicobasal cell elongation by redistributing gamma-tubulin and directing the assembly of robust apicobasal microtubule arrays (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The three genes associated with chronic kidney disease (AGT, GLO1, and SHROOM3) showed associations with both the high levels of oxidatively damaged DNA and genomic instability., [RefSeq, PubMed]; This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]., [RefSeq]; We confirmed the interaction of endogenous SHROOM3 with FYN in podocytes via a critical Src homology 3-binding domain, distinct from its ROCK-binding domain. Shroom3-Fyn interaction was required in vitro and in vivo for activation of Fyn kinase and downstream nephrin phosphorylation in podocytes., [RefSeq, PubMed]; We determined that coding variant P1244L attenuates the interaction of SHROOM3 with 14-3-3, suggesting alterations to the Hippo pathway, a known mediator of CKD., [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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "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": "Q5QTQ3;Q6ZRW3;Q96IR9;Q9P247", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005874 microtubule;GO:0005912 adherens junction;GO:0016324 apical plasma membrane;GO:0030864 cortical actin cytoskeleton", "go_biological_process": "GO:0043482 cellular pigment accumulation;GO:0007015 actin filament organization;GO:0000902 cell morphogenesis;GO:0008360 regulation of cell shape;GO:0007389 pattern specification process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8TF72-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWL2-1", "uniprot_id": [ { "id": "SPIR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWL2", "type": "external" } ], "mass": 79671.0, "length": 714, "protein_name": "Protein spire homolog 2", "gene_name": "SPIRE2", "organism": "Human", "refseq_name": "protein spire homolog 2", "refseq_ac": [ { "id": "NP_115827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115827", "type": "external" } ], "gene_names_uniprotkb": "SPIRE2; KIAA1832; SPIR2", "gene_names_refseq": "SPIRE2; Spir-2", "protein_names_uniprotkb": "Protein spire homolog 2; Spir-2", "protein_names_refseq": "protein spire homolog 2; spire actin nucleation factor 2; spire family actin nucleation factor 2; spire homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84501)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;19605360;19651622;20068231;21620703;23186163;25564607;26287480;27627128;28228285;29557506;30315122;31844290;32157095;32938616;32983136;33968037;35051231;37217939;39894887", "class_list": "", "function": "Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:21620703). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (By similarity). Required for asymmetric spindle positioning and asymmetric cell division during meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (PubMed:26287480)., [UniProtKB, PubMed, PubMed, UniProtKB]; Both mammalian Spir proteins, Spir-1 and Spir-2, interact with mammalian Fmn subgroup proteins formin-1 and formin-2, [RefSeq, PubMed]; Influences intracellular replication of Salmonella typhimurium Publication Status: Online-Only, [RefSeq, PubMed]; This DNA damage-induced nuclear actin assembly requires two biologically and physically linked nucleation factors: Formin-2 and Spire-1/Spire-2. Erratum:[Elife. 2015 Oct 05;4. doi: 10.7554/eLife.11935. PMID: 26437453] Publication Status: Online-Only, [RefSeq, PubMed]; We therefore characterized co-expressed Spir-2 and Fmn-2 fluorescent protein fusions . The data corroborate a model according to which Spir-2 exists in two different states, a cytosolic monomeric conformation and a membrane-bound state, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "A4QPB1;Q2TA98;Q6P433;Q8ND47;Q96JJ5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005938 cell cortex;GO:0030659 cytoplasmic vesicle membrane;GO:0032154 cleavage furrow", "go_biological_process": "GO:0015031 protein transport;GO:0030036 actin cytoskeleton organization;GO:0016192 vesicle-mediated transport;GO:0051639 actin filament network formation;GO:0046907 intracellular transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8WWL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92581-2", "uniprot_id": [ { "id": "SL9A6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92581", "type": "external" } ], "mass": 77917.0, "length": 701, "protein_name": "Sodium/hydrogen exchanger 6", "gene_name": "SLC9A6", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 6 isoform a precursor", "refseq_ac": [ { "id": "NP_001036002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036002", "type": "external" } ], "gene_names_uniprotkb": "SLC9A6; KIAA0267; NHE6", "gene_names_refseq": "MRSA; MRXSCH; NDPACX; NHE6; SLC9A6", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 6; NHE-6; Na(+)/H(+) exchanger 6; Solute carrier family 9 member 6", "protein_names_refseq": "Na(+)/H(+) exchanger 6; sodium/hydrogen exchanger 6 isoform a precursor; solute carrier family 9 (sodium/hydrogen exchanger), member 6; solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Christianson syndrome (Disease Ontology:DOID:0060825); neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment (MONDO:MONDO:0976236)", "pathway": " (hsa:10479); (R-HSA-425986); (R-HSA-5619092)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10444453;11279194;11641397;11940519;15522866;17370265;18057008;18342287;18452278;19159218;19619532;20130086;20395263;23481700;24123876;25044251;2536298;25892735;28228285;28635961;29242379;29314611;29393594;29632711;30296617;31676550;32277048;32373127;35198730;37747131;37794328;38945311;39107881;39810750;7631746;9507001;9933641", "class_list": "", "function": "A novel peptide encoded by circ-SLC9A6 promotes lipid dyshomeostasis through the regulation of H4K16ac-mediated CD36 transcription in NAFLD., [RefSeq, PubMed]; Endosomal Na(+), K(+)/H(+) antiporter (PubMed:15522866, PubMed:28635961, PubMed:31676550, PubMed:32277048). Mediates the electroneutral exchange of endosomal luminal H(+) for a cytosolic Na(+) or K(+). By facilitating proton efflux, SLC9A6 counteracts the acidity generated by vacuolar (V)-ATPase, thereby limiting luminal acidification. Responsible for alkalizing and maintaining the endosomal pH, and consequently in, e.g., endosome maturation and trafficking of recycling endosomal cargo (PubMed:15522866, PubMed:28635961, PubMed:31676550, PubMed:32277048). Plays a critical role during neurodevelopment by regulating synaptic development and plasticity (By similarity). Implicated in the maintenance of cell polarity in a manner that is dependent on its ability to modulate intravesicular pH (PubMed:20130086). Regulates intracellular pH in some specialized cells, osteoclasts and stereocilia where this transporter localizes to the plasma membrane (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Genes for endosomal pH regulators NHE6 and NHE9 are dysregulated in the substantia nigra in Parkinson's disease., [RefSeq, PubMed]; NHE6 in the endosomal recycling system is involved in the development of apical bile canalicular surface domains in HepG2 cells, [RefSeq, PubMed]; Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model., [RefSeq, PubMed]; This gene encodes a sodium-hydrogen exchanger that is amember of the solute carrier family 9. The encoded protein localizes to early and recycling endosomes and may be involved in regulating endosomal pH and volume. Defects in this gene are associated with X-linked syndromic cognitive disability, Christianson type. Alternate splicing results in multiple transcript variants.[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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A6NIQ9;A8K160;B4DU30;B7ZAE0;Q3ZCW7;Q5JPP8;Q5JPP9;Q86VS0;Q8WYK8", "ec_number_list": [ { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.104", "type": "external" } ], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0005789 endoplasmic reticulum membrane;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0048812 neuron projection morphogenesis;GO:0035725 sodium ion transmembrane transport;GO:0030010 establishment of cell polarity;GO:0048675 axon extension;GO:0097484 dendrite extension", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q92581-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969W0-1", "uniprot_id": [ { "id": "SPTSA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969W0", "type": "external" } ], "mass": 8466.0, "length": 71, "protein_name": "Serine palmitoyltransferase small subunit A", "gene_name": "SPTSSA", "organism": "Human", "refseq_name": "serine palmitoyltransferase small subunit A", "refseq_ac": [ { "id": "NP_612145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612145", "type": "external" } ], "gene_names_uniprotkb": "SPTSSA; C14orf147; SSSPTA", "gene_names_refseq": "C14orf147; SPG90A; SPG90B; SPTSSA; SSSPTA", "protein_names_uniprotkb": "Serine palmitoyltransferase small subunit A; Small subunit of serine palmitoyltransferase A; ssSPTa", "protein_names_refseq": "serine palmitoyltransferase small subunit A; small subunit of serine palmitoyltransferase A", "tax_id": 9606, "disease": "hereditary spastic paraplegia 90A (Disease Ontology:DOID:0070459); hereditary spastic paraplegia 90B (Disease Ontology:DOID:0070460)", "pathway": " (hsa:171546); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10722674;10751414;10802064;10947957;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17982138;18165232;18165233;18184806;19005213;19233134;19416851;19506037;20061445;20110355;20182505;21620961;22517924;22970244;23180825;23481700;23510452;23602659;23754960;24569996;24782409;25788259;25892735;26154972;26992070;27600516;27920218;28218747;28228285;28575652;29437277;29557506;29563527;29632046;29769354;30315122;30410026;31844290;31895563;32029474;32161166;32357974;32938616;33558761;33558762;33912179;33936100;34087483;34185709;35051231;35409383;35580925;36215666;36241641;36718090;36902339;36907437;37224812;37308477;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "A genome-wide CRISPR/Cas9 screen reveals that the aryl hydrocarbon receptor stimulates sphingolipid levels., [RefSeq, PubMed]; Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases (PubMed:19416851). The SPT complex is composed of SPTLC1, SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer consisting of SPTLC1 and SPTLC2/SPTLC3 forms the catalytic core (PubMed:19416851). Within the SPT complex, SPTSSA stimulates the catalytic activity and plays a role in substrate specificity, which depends upon the overall complex composition (PubMed:19416851, PubMed:33558761). The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA (PubMed:19416851). Independently of its action as a SPT component, may be involved in MBOAT7 localization to mitochondria-associated membranes, a membrane bridge between the endoplasmic reticulum and mitochondria, may hence affect MBOAT7-catalyzed incorporation of arachidonic acid into phosphatidylinositol (PubMed:23510452)., [UniProtKB, PubMed, PubMed, PubMed]; Discovery of 2 proteins, ssSPTa and ssSPTb, which each interacts with both hLCB1 and hLCB2, suggesting[ssSPTa] [ssSPTb] Erratum:[Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9931], [RefSeq, PubMed]; SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia., [RefSeq, PubMed]; Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]., [RefSeq]; SsSPTa is identified as an LPIAT1-interacting 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": 2, "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": "B2RD54;D3DS93;Q8WTZ7", "ec_number_list": [], "go_molecular_function": "GO:0004758 serine C-palmitoyltransferase activity", "go_cellular_component": "GO:0017059 serine palmitoyltransferase complex;GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006686 sphingomyelin biosynthetic process;GO:0006688 glycosphingolipid biosynthetic process;GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0046512 sphingosine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q969W0-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DU3-1", "uniprot_id": [ { "id": "SLAF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DU3", "type": "external" } ], "mass": 37345.0, "length": 332, "protein_name": "SLAM family member 6", "gene_name": "SLAMF6", "organism": "Human", "refseq_name": "SLAM family member 6 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001171643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171643", "type": "external" } ], "gene_names_uniprotkb": "SLAMF6; KALI; PRO20080", "gene_names_refseq": "CD352; KALIb; KALI; Ly108; NTB-A; NTBA; SF2000; SLAMF6", "protein_names_uniprotkb": "SLAM family member 6; Activating NK receptor; NK-T-B-antigen; NTB-A", "protein_names_refseq": "NK-T-B-antigen; NTBA receptor; SLAM family member 6 isoform 1 precursor; activating NK receptor; natural killer-, T- and B-cell antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:114836); (R-HSA-198933)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15340161;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16920955;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18507432;18593354;19149696;19349973;19359216;19592130;19690332;20730098;21241660;21800138;21841309;21877119;22184727;22299025;22396535;22989874;23328677;23481700;23695528;23739916;23929856;24190977;24305946;24714562;25418920;25502872;25548167;25703557;25716998;26284469;26300885;26728094;27846572;28063628;28467828;28514659;28832583;28871256;29242379;29314611;29351928;29493099;29508533;29557506;29632711;31217245;31611695;31844290;32350084;32357974;32938616;32983136;33091337;33633747;33774556;33912179;34357683;34561969;34932366;35016729;35051231;35154160;35251023;35561310;38287061;40914422;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Clinical and immunological relevance of SLAMF6 expression in the tumor microenvironment of breast cancer and melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Expression and function of SLAMF6 in CD8(+) T lymphocytes of patients with severe aplastic anemia., [RefSeq, PubMed]; SLAMF6 is associated with the susceptibility and severity of rheumatoid arthritis in the Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Triggers cytolytic activity only in natural killer cells (NK) expressing high surface densities of natural cytotoxicity receptors (PubMed:11489943, PubMed:16920955). Positive signaling in NK cells implicates phosphorylation of VAV1. NK cell activation seems to depend on SH2D1B and not on SH2D1A (PubMed:16920955). In conjunction with SLAMF1 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage (By similarity). Promotes T-cell differentiation into a helper T-cell Th17 phenotype leading to increased IL-17 secretion; the costimulatory activity requires SH2D1A (PubMed:16920955, PubMed:22184727). Promotes recruitment of RORC to the IL-17 promoter (PubMed:22989874). In conjunction with SLAMF1 and CD84/SLAMF5 may be a negative regulator of the humoral immune response. In the absence of SH2D1A/SAP can transmit negative signals to CD4(+) T-cells and NKT cells. Negatively regulates germinal center formation by inhibiting T-cell:B-cell adhesion; the function probably implicates increased association with PTPN6/SHP-1 via ITSMs in absence of SH2D1A/SAP. However, reported to be involved in maintaining B-cell tolerance in germinal centers and in preventing autoimmunity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A6NMW2;B2R8X8;Q14CF0;Q5TAS4;Q5TAS6;Q5TAT3;Q96DV0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0032740 positive regulation of interleukin-17 production;GO:0006955 immune response;GO:0045087 innate immune response;GO:0042110 T cell activation;GO:0032729 positive regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q96DU3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PI1-1", "uniprot_id": [ { "id": "SPRR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PI1", "type": "external" } ], "mass": 8793.0, "length": 79, "protein_name": "Small proline-rich protein 4", "gene_name": "SPRR4", "organism": "Human", "refseq_name": "small proline-rich protein 4", "refseq_ac": [ { "id": "NP_775103", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775103", "type": "external" } ], "gene_names_uniprotkb": "SPRR4", "gene_names_refseq": "SPRR4", "protein_names_uniprotkb": "Small proline-rich protein 4", "protein_names_refseq": "small proline-rich protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:163778)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11719550;18643845", "class_list": "", "function": "Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families., [RefSeq, PubMed]; Cross-linked envelope protein of keratinocytes. Involved in UV-induced cornification., [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": "Q2M1Y7;Q5T522", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005938 cell cortex", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q96PI1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99720-1", "uniprot_id": [ { "id": "SGMR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99720", "type": "external" } ], "mass": 25128.0, "length": 223, "protein_name": "Sigma non-opioid intracellular receptor 1", "gene_name": "SIGMAR1", "organism": "Human", "refseq_name": "sigma non-opioid intracellular receptor 1 isoform 6", "refseq_ac": [ { "id": "NP_001269134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269134", "type": "external" } ], "gene_names_uniprotkb": "SIGMAR1; AAG8; OPRS1; SRBP", "gene_names_refseq": "ALS16; DSMA2; HMNR2; OPRS1; SIG-1R; SIGMAR1; SR-BP1; SR-BP; SRBP; hSigmaR1; sigma1R", "protein_names_uniprotkb": "Sigma non-opioid intracellular receptor 1; Aging-associated gene 8 protein; SIG-1R; SR-BP; SR31747-binding protein; Sigma 1-type opioid receptor; Sigma1-receptor; Sigma1R; hSigmaR1", "protein_names_refseq": "SR31747 binding protein 1; aging-associated gene 8 protein; sigma 1-type opioid receptor; sigma non-opioid intracellular receptor 1 isoform 6", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); amyotrophic lateral sclerosis type 16 (Disease Ontology:DOID:0060207); autosomal recessive distal hereditary motor neuronopathy 2 (Disease Ontology:DOID:0111065); sciatic neuropathy (Disease Ontology:DOID:11446); post-traumatic stress disorder (Disease Ontology:DOID:2055); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:10280); (R-HSA-9679191)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10087012;10406945;11237011;11476895;11687279;15298647;16115318;16472803;16522641;17662961;20112406;20223979;21842496;21872626;21993680;22292588;22401777;22552008;22814904;23314020;23481700;23641311;24272870;24584101;24714562;24715725;25418920;25505266;25576301;25645385;25647032;25801024;26002965;26078401;26154972;26375851;26728094;26811146;26929215;26992070;27042935;27090790;27600516;27629094;27893789;28063628;28218747;28228285;28425720;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29786170;29945920;30201761;30315122;30410026;30429286;30484775;30524438;30573663;30833945;31048504;31092671;31217245;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33592498;33691108;33717175;33912179;33968037;34171305;34509645;35051231;35580925;36010968;36215666;36241641;36581221;37175473;37199665;37511389;37938771;38621504;39107544;40914422;8954936;9341151;9453537", "class_list": "", "function": "Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Regulates calcium efflux at the endoplasmic reticulum., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; SIGMAR1 Confers Innate Resilience against Neurodegeneration. Review article Publication Status: Online-Only, [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]; Sig1R activates extracellular matrix-induced bladder cancer cell proliferation and angiogenesis by combing beta-integrin., [RefSeq, PubMed]; The Sigma-1 Receptor Is a Novel Target for Improving Cold Preservation in Rodent Kidney Transplants. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]., [RefSeq]; Unraveling the CLCC1 interactome: Impact of the Asp25Glu variant and its interaction with SigmaR1 at the Mitochondrial-Associated ER Membrane (MAM)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "D3DRM7;O00673;O00725;Q0Z9W6;Q153Z1;Q2TSD1;Q53GN2;Q7Z653;Q8N7H3;Q9NYX0", "ec_number_list": [], "go_molecular_function": "GO:0004985 G protein-coupled opioid receptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0097305 response to alcohol;GO:0006869 lipid transport;GO:0007399 nervous system development;GO:0043524 negative regulation of neuron apoptotic process;GO:0070207 protein homotrimerization", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q99720-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBX3-1", "uniprot_id": [ { "id": "SNIT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBX3", "type": "external" } ], "mass": 12922.0, "length": 110, "protein_name": "Uncharacterized protein encoded by SND1-IT1", "gene_name": "SND1-IT1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SND1-IT1; C7orf54; NAG8", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein encoded by SND1-IT1; Brain and nasopharyngeal carcinoma susceptibility protein NSG-x; Nasopharyngeal carcinoma-associated gene 8 protein; SND1 intronic transcript 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": "B3KNA6;O95358", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9HBX3-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPC8-1", "uniprot_id": [ { "id": "SIX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPC8", "type": "external" } ], "mass": 32286.0, "length": 291, "protein_name": "Homeobox protein SIX2", "gene_name": "SIX2", "organism": "Human", "refseq_name": "homeobox protein SIX2", "refseq_ac": [ { "id": "NP_058628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058628", "type": "external" } ], "gene_names_uniprotkb": "SIX2", "gene_names_refseq": "SIX2", "protein_names_uniprotkb": "Homeobox protein SIX2; Sine oculis homeobox homolog 2", "protein_names_refseq": "homeobox protein SIX2; sine oculis homeobox homolog 2", "tax_id": 9606, "disease": "renal Wilms' tumor (Disease Ontology:DOID:5176); cleft palate (Disease Ontology:DOID:674); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:10736); (R-HSA-9830674)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10677303;10773454;18305125;19651622;20515681;22703800;22995329;23481700;25576301;30429286;30779550;31848261;32157095;32460030;32506814;33281191;33334785;33968037;35051231;35913414;37217939", "class_list": "", "function": "Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse., [RefSeq, PubMed]; De novo SIX2 activation in human kidneys treated with neonatal kidney stem/progenitor cells., [RefSeq, PubMed]; Defects in these proteins could affect kidney development at multiple stages, leading to the congenital anomalies observed in patients with renal hypodysplasia, [RefSeq, PubMed]; Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants., [RefSeq, PubMed]; Overexpression of Sine Oculis Homeobox Homolog 2 Predicts Poor Survival and Clinical Parameters of Patients with Colon Adenocarcinoma., [RefSeq, PubMed]; SIX2 Regulates Human beta Cell Differentiation from Stem Cells and Functional Maturation In Vitro., [RefSeq, PubMed]; This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008]., [RefSeq]; Transcription factor that plays an important role in the development of several organs, including kidney, skull and stomach. During kidney development, maintains cap mesenchyme multipotent nephron progenitor cells in an undifferentiated state by opposing the inductive signals emanating from the ureteric bud and cooperates with WNT9B to promote renewing progenitor cells proliferation. Acts through its interaction with TCF7L2 and OSR1 in a canonical Wnt signaling independent manner preventing transcription of differentiation genes in cap mesenchyme such as WNT4. Also acts independently of OSR1 to activate expression of many cap mesenchyme genes, including itself, GDNF and OSR1. During craniofacial development plays a role in growth and elongation of the cranial base through regulation of chondrocyte differentiation. During stomach organogenesis, controls pyloric sphincter formation and mucosal growth through regulation of a gene network including NKX2-5, BMPR1B, BMP4, SOX9 and GREM1. During branchial arch development, acts to mediate HOXA2 control over the insulin-like growth factor pathway. May also be involved in limb tendon and ligament development (By similarity). Plays a role in cell proliferation and migration., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "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": "Q9BXH7", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0044877 protein-containing complex binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0072006 nephron development;GO:0007501 mesodermal cell fate specification;GO:0072028 nephron morphogenesis;GO:0072038 mesenchymal stem cell maintenance involved in nephron morphogenesis;GO:0090189 regulation of branching involved in ureteric bud morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9NPC8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRC6-1", "uniprot_id": [ { "id": "SPTN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRC6", "type": "external" } ], "mass": 416750.0, "length": 3674, "protein_name": "Spectrin beta chain, non-erythrocytic 5", "gene_name": "SPTBN5", "organism": "Human", "refseq_name": "spectrin beta chain, non-erythrocytic 5", "refseq_ac": [ { "id": "NP_057726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057726", "type": "external" } ], "gene_names_uniprotkb": "SPTBN5; BSPECV; HUBSPECV; HUSPECV", "gene_names_refseq": "BSPECV; HUBSPECV; HUSPECV; SPTBN5", "protein_names_uniprotkb": "Spectrin beta chain, non-erythrocytic 5; Beta-V spectrin", "protein_names_refseq": "beta V spectrin; spectrin beta chain, brain 4; spectrin beta chain, non-erythrocytic 5; spectrin, non-erythroid beta chain 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:51332); (R-HSA-375165); (R-HSA-445095); (R-HSA-5673001); (R-HSA-6807878)", "pathway_count": 5, "publication_count": 203, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10318838;10445031;10508167;10559959;10679020;10761932;10764729;10869344;10903204;10921873;11027663;11035033;11090077;11136978;11172815;11222639;11285137;11306556;11313946;11461920;11546808;11689559;11702783;11703931;11726511;11748249;11875071;12032311;12042320;12047556;12070132;12094235;12121613;12388752;12634853;12700044;14506247;14654841;14707138;14742712;15037235;15104674;15356145;1545823;15546878;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16597699;16627759;16633337;16684964;16723730;1680566;16904324;16912714;16926190;16940185;1716764;17223356;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;17998941;18048348;18086915;18182008;18283113;18524849;18775330;18809720;1898771;1898986;19015319;19109418;19164740;19279408;19296914;1957170;19631211;19758564;19851296;19920141;20043139;20198315;20357002;20427317;20478380;20637885;21102635;21219331;21372320;21689688;21779497;21779505;21844168;21993244;22013193;22094269;22304919;22569528;22589270;22750304;23103841;23303910;23443682;23481700;23575685;23704327;23783831;23839779;24119662;24806965;24897931;24937142;25219551;25418920;25436559;25492864;25645385;25781681;26085527;26154972;26811146;26929215;27600516;27846572;27920218;28063628;2809592;28179572;28778966;28860189;28904123;29242379;29393594;29557506;29632046;29786170;30573663;31092671;31135801;31844290;32265295;32387766;32502341;32938616;32983136;33392160;33592498;33912179;34087483;35051231;35580925;37217939;6148751;7691276;7809086;7935463;7972015;7997267;8001155;8052307;8128252;8132710;8221884;8253837;8394845;8493579;8505331;8620540;8636227;8665852;8710374;8939933;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9604935;9671725;9687510;9751720;9927426;9990005", "class_list": "", "function": "Adaptive mutations of spectrin-betaV occurred in the mammalian lineage and were accompanied with substantial changes in the protein distribution within inner ear hair cells., [RefSeq, PubMed]; Interaction of hTRPC4 with alphaII-spectrin and betaV-spectrin was confirmed by glutathione S-transferase pulldown and co-immunoprecipitation experiments, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Study identified spectrin betaV as a myosin VIIa- and rhodopsin-interacting partner in photoreceptor cells; suggest that spectrin betaV homomers couple some USH1 proteins, opsin and other phototransduction proteins to both actin- and microtubule-based motors, thereby contributing to their transport towards the photoreceptor outer disks, [RefSeq, PubMed]; The initial chi-square test revealed that the Cright curved arrow T polymorphism of CLEC16A and the Aright curved arrow G polymorphism of SPTBN5 were significantly ssociated with ischemic stroke among individuals with metabolic 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": 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": 58, "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": [], "go_molecular_function": "GO:0032029 myosin tail binding;GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0030507 spectrin binding", "go_cellular_component": "GO:0045179 apical cortex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0051693 actin filament capping;GO:0007030 Golgi organization;GO:0007041 lysosomal transport", "synthesized_glycan_count": 0, "hit_score": 20.8, "record_id": "Q9NRC6-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBY0-1", "uniprot_id": [ { "id": "SL9A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBY0", "type": "external" } ], "mass": 91520.0, "length": 812, "protein_name": "Sodium/hydrogen exchanger 2", "gene_name": "SLC9A2", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 2 precursor", "refseq_ac": [ { "id": "NP_003039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003039", "type": "external" } ], "gene_names_uniprotkb": "SLC9A2; NHE2", "gene_names_refseq": "NHE2; SLC9A2", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 2; NHE-2; Na(+)/H(+) exchanger 2; Solute carrier family 9 member 2", "protein_names_refseq": "Na(+)/H(+) exchanger 2; sodium/hydrogen exchanger 2 precursor; sodium/hydrogen exchanger 2; solute carrier family 9 (sodium/hydrogen exchanger), member 2; solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2", "tax_id": 9606, "disease": "nephrolithiasis (Disease Ontology:DOID:585)", "pathway": " (hsa:6549); (R-HSA-425986)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10444453;11279194;11940519;15522866;16959974;2536298;25892735;29557506;29789417;30459171;30833945;30977986;31092671;32387766;32938616;34087483;34288721;35051231;36241641;38619631;38809379;7631746;8772498;8843774;9933641", "class_list": "", "function": "Differentiated Caco-2BBe cells display particularly high mRNA expression levels of NHE2, which can be functionally identified in the apical membrane. Although at low intracellular pH, NHE2 transport rate was far lower than that of NHE1. NHE2 activity was nevertheless essential for the maintenance of the steady-state pHi of these cells., [RefSeq, PubMed]; Functional characterization of the sodium/hydrogen exchanger 8 and its role in proliferation of colonic epithelial cells., [RefSeq, PubMed]; Identification and Validation of SLC9A2 as A Potential Tumor Suppressor in Colorectal Cancer: Integrating Bioinformatics Analysis with Experimental Confirmation., [RefSeq, PubMed]; Plasma membrane Na(+)/H(+) antiporter. Mediates the electroneutral exchange of intracellular H(+) ions for extracellular Na(+) (PubMed:10444453). Major apical Na(+)/H(+) exchanger in the base of the colonic crypt. Controls in the colonic crypt intracellular pH (pHi) to direct colonic epithelial cell differentiation into the absorptive enterocyte lineage at the expense of the secretory lineage (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]., [RefSeq]; ZDHHC3-mediated S-palmitoylation of SLC9A2 regulates apoptosis in kidney clear cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RMS2", "ec_number_list": [ { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.104", "type": "external" } ], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0030054 cell junction;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0035725 sodium ion transmembrane transport;GO:0051453 regulation of intracellular pH;GO:0071805 potassium ion transmembrane transport;GO:0098719 sodium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9UBY0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJC5-1", "uniprot_id": [ { "id": "SH3L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJC5", "type": "external" } ], "mass": 12326.0, "length": 107, "protein_name": "SH3 domain-binding glutamic acid-rich-like protein 2", "gene_name": "SH3BGRL2", "organism": "Human", "refseq_name": "SH3 domain-binding glutamic acid-rich-like protein 2", "refseq_ac": [ { "id": "NP_113657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113657", "type": "external" } ], "gene_names_uniprotkb": "SH3BGRL2; FASH3", "gene_names_refseq": "SH3BGRL2", "protein_names_uniprotkb": "SH3 domain-binding glutamic acid-rich-like protein 2; Fovea-associated SH3 domain-binding protein", "protein_names_refseq": "SH3 domain binding glutamic acid-rich protein like 2; SH3 domain-binding glutamic acid-rich-like protein 2; fovea-associated SH3 domain-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83699)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;12095696;20522523;28832583;29557506;30429286;31154438;31848261;32157095;33610914;33981976;34185709;35051231;36284347", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SH3BGRL2 functions as a crucial tumor suppressor in glioblastoma tumorigenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8MQU2;Q2VPC2;Q5VV96;Q6NSK8;Q6P9E8;Q7Z734;Q8IWD3;Q9BPY5", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9UJC5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2E8-1", "uniprot_id": [ { "id": "SL9A8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2E8", "type": "external" } ], "mass": 65422.0, "length": 581, "protein_name": "Sodium/hydrogen exchanger 8", "gene_name": "SLC9A8", "organism": "Human", "refseq_name": "sodium/hydrogen exchanger 8 isoform 1", "refseq_ac": [ { "id": "NP_001247420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247420", "type": "external" } ], "gene_names_uniprotkb": "SLC9A8; KIAA0939; NHE8", "gene_names_refseq": "NHE-8; NHE8; SLC9A8", "protein_names_uniprotkb": "Sodium/hydrogen exchanger 8; NHE-8; Na(+)/H(+) exchanger 8; Solute carrier family 9 member 8", "protein_names_refseq": "Na(+)/H(+) exchanger 8; sodium/hydrogen exchanger 8 isoform 1; solute carrier family 9 (sodium/hydrogen exchanger), member 8; solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:23315); (R-HSA-425986)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10444453;11279194;11940519;15522866;17881426;18209477;20068231;20719963;2536298;25418920;25892735;26154972;26564720;26992070;27862975;28218747;28228285;28467828;28476888;28489076;28832583;28834231;28855257;28904123;29242379;29557506;29632711;29769354;30315122;30429286;30524438;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32502341;32938616;33141586;33392160;33592498;33912179;33936100;33968037;33981976;34171305;34288721;34357683;35051231;35154160;36010968;36215666;36241641;36583805;38253038;39894887;7631746;9933641", "class_list": "", "function": "Downregulation of SLC9A8 Promotes Epithelial-Mesenchymal Transition and Metastasis in Colorectal Cancer Cells via the IL6-JAK1/STAT3 Signaling Pathway., [RefSeq, PubMed]; Functional characterization of the sodium/hydrogen exchanger 8 and its role in proliferation of colonic epithelial cells., [RefSeq, PubMed]; NHE8 is expressed along the gastrointestinal tract and NHE8 is a functional Na(+)/H(+) exchanger with kinetic characteristics that differ from other apically expressed NHE isoforms., [RefSeq, PubMed]; NHE8 is expressed in goblet cells, and the inflammatory cytokine TNF-alpha downregulates NHE8 expression by a transcriptional mechanism., [RefSeq, PubMed]; Na(+)/H(+) antiporter. Mediates the electoneutral exchange of intracellular H(+) ions for extracellular Na(+) in 1:1 stoichiometry (PubMed:15522866). Acts as an Na(+)/H(+) exchanger in the trans-Golgi. Contributes to the regulation of pH regulation of Golgi apparatus, and consequently, in protein trafficking and endosomal morphology (PubMed:15522866, PubMed:20719963). In germ cells, plays a crucial role in acrosome biogenesis and sperm development, probably by playing a role in the fusion of the Golgi-derived vesicles that form the acrosomal cap (By similarity). Can also be active at the cell surface of specialized cells. In the small intestine, at the cell membrane, plays a major physiological role in transepithelial absorption of Na(+) and regulates intracellular pH homeostasis of intestinal epithelial cells (PubMed:34288721). Acts as an important regulator of mucosal integrity in the intestine and in the stomach, could mediate the pH fluctuation necessary for mucin exocytosis or assist membrane trafficking of other proteins (By similarity). Plays a role in photoreceptor survival and in the maintenance of intracellular pH homeostasis in retinal pigment epithelium (RPE cells) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA., [RefSeq, PubMed]; Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]., [RefSeq]; Work has uncovered a crucial role of NHE8 in acrosome biogenesis and suggests that some forms of human globozoospermia might be caused by a loss of function of this Na(+)/H(+) exchanger., [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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DTQ8;Q2M1U9;Q68CZ8;Q9BX15;Q9Y507", "ec_number_list": [ { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.104", "type": "external" } ], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0015386 potassium:proton antiporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0032588 trans-Golgi network membrane;GO:0016324 apical plasma membrane;GO:0001669 acrosomal vesicle;GO:0032585 multivesicular body membrane", "go_biological_process": "GO:0035725 sodium ion transmembrane transport;GO:0001675 acrosome assembly;GO:0051453 regulation of intracellular pH;GO:0071805 potassium ion transmembrane transport;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9Y2E8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6J3-1", "uniprot_id": [ { "id": "SMA5O_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6J3", "type": "external" } ], "mass": 10312.0, "length": 95, "protein_name": "SMAD5 antisense gene protein 1", "gene_name": "SMAD5-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SMAD5-AS1; DAMS; SMAD5OS", "gene_names_refseq": "", "protein_names_uniprotkb": "SMAD5 antisense gene protein 1; 10.3 kDa proline-rich protein DAMS; SMAD5 antisense RNA 1; SMAD5 opposite strand protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10049768", "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": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9Y6J3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D263-1", "uniprot_id": [ { "id": "SMIP7_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D263", "type": "external" } ], "mass": 49672.0, "length": 438, "protein_name": "Protein SPMIP7", "gene_name": "SPMIP7", "organism": "Human", "refseq_name": "protein SPMIP7", "refseq_ac": [ { "id": "NP_001155306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155306", "type": "external" } ], "gene_names_uniprotkb": "SPMIP7; C7orf72; SPATA48", "gene_names_refseq": "C7orf72; SPATA48; SPMIP7", "protein_names_uniprotkb": "Protein SPMIP7; Sperm microtubule inner protein 7; Spermatogenesis-associated protein 48", "protein_names_refseq": "protein SPMIP7; spermatogenesis associated 48; spermatogenesis-associated protein 48; uncharacterized protein C7orf72", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130988)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "28228285;29700843;31844290;32897882", "class_list": "", "function": "Essential for normal spermatogenesis., [UniProtKB, UniProtKB]; In humans and mice with azoospermia, expression of SPATA48 disappeared in the testis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NDX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A4D263-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0P670-1", "uniprot_id": [ { "id": "SPEM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0P670", "type": "external" } ], "mass": 57131.0, "length": 501, "protein_name": "Uncharacterized protein SPEM2", "gene_name": "SPEM2", "organism": "Human", "refseq_name": "uncharacterized protein SPEM2", "refseq_ac": [ { "id": "NP_783861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783861", "type": "external" } ], "gene_names_uniprotkb": "SPEM2; C17orf74", "gene_names_refseq": "C17orf74; SPEM2", "protein_names_uniprotkb": "Uncharacterized protein SPEM2", "protein_names_refseq": "uncharacterized protein C17orf74; uncharacterized protein SPEM2", "tax_id": 9606, "disease": "", "pathway": " (hsa:201243)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": 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_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q0P670-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75897-1", "uniprot_id": [ { "id": "ST1C4_HUMAN", "url": "https://www.uniprot.org/uniprot/O75897", "type": "external" } ], "mass": 35520.0, "length": 302, "protein_name": "Sulfotransferase 1C4", "gene_name": "SULT1C4", "organism": "Human", "refseq_name": "sulfotransferase 1C4 isoform 2", "refseq_ac": [ { "id": "NP_001308699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308699", "type": "external" } ], "gene_names_uniprotkb": "SULT1C4; SULT1C2", "gene_names_refseq": "SULT1C2; SULT1C4; SULT1C", "protein_names_uniprotkb": "Sulfotransferase 1C4; 2.8.2.1; ST1C4; SULT1C#2; Sulfotransferase 1C2", "protein_names_refseq": "ST1C4; SULT1C#2; sulfotransferase 1C2; sulfotransferase 1C4 isoform 2; sulfotransferase 1C4; sulfotransferase family, cytosolic, 1C, member 2; sulfotransferase family, cytosolic, 1C, member 4; sulfotransferase family, cytosolic, 1C, member C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27233); (R-HSA-156584); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "10199779;10224133;10503886;10512730;10741631;10783263;11077054;11154739;11457664;11714888;11739018;12039030;12145317;12372849;12473676;12889478;14622112;14672934;15358107;16696573;17425406;17627974;17924658;18232020;18357469;18606703;18672380;19463;19842618;20112406;20190787;21666065;21712391;22349737;22406294;2268288;23479625;23481380;23682772;2573352;26049587;26067475;26948952;28222028;29557506;30429286;32157095;32303576;32472168;3395122;35249434;36880364;6139755;6770210;6950087;70646;7469630;7678732;7779757;8185618;8697101;8774549;8813074;9024171;9034160;9080;9463486;9501187;9566739;9852044", "class_list": "", "function": "Developmental Expression of SULT1C4 Transcript Variants in Human Liver: Implications for Discordance Between SULT1C4 mRNA and Protein Levels., [RefSeq, PubMed]; Sulfation of hyperoside by the human cytosolic sulfotransferases (SULTs): impact of genetic polymorphisms on hyperoside-sulfating activity of SULT1C4 allozymes., [RefSeq, PubMed]; Sulfotransferase 1C2 promotes hepatocellular carcinoma progression by enhancing glycolysis and fatty acid 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 encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. [provided by RefSeq, Jul 2008]., [RefSeq]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic compounds. Can also sulfonate estrogenic compounds, however, the dietary flavonoids (phytoestrogen) and environmental estrogens, like bisphenol A are better substrates than 17beta-estradiol (E2) (PubMed:17425406, PubMed:26948952, PubMed:28222028, PubMed:9852044). Mediates the sulfation of doxorubicin and its analog epirubicin, two antitumor anthracyclines (PubMed:26948952)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The current study aimed to identify the human cytosolic sulfotransferase(s) that is(are) capable of sulfating doxorubicin and its analog epirubicin, and to verify whether sulfation of doxorubicin and epirubicin may occur under metabolic conditions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q069I8;Q08AS5;Q53S63", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0004062 aryl sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051923 sulfation;GO:0006068 ethanol catabolic process;GO:0006805 xenobiotic metabolic process;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process;GO:0044598 doxorubicin metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O75897-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94956-1", "uniprot_id": [ { "id": "SO2B1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94956", "type": "external" } ], "mass": 76699.0, "length": 709, "protein_name": "Solute carrier organic anion transporter family member 2B1", "gene_name": "SLCO2B1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 2B1 isoform 2", "refseq_ac": [ { "id": "NP_001138683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138683", "type": "external" } ], "gene_names_uniprotkb": "SLCO2B1; KIAA0880; OATP2B1; OATPB; SLC21A9", "gene_names_refseq": "OATP-B; OATP2B1; OATPB; SLC21A9; SLCO2B1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 2B1; OATP-B; OATP-RP2; OATP2B1; OATPRP2; Organic anion transporter B; Organic anion transporter polypeptide-related protein 2; Organic anion transporting polypeptide 2B1; Solute carrier family 21 member 9", "protein_names_refseq": "OATP-RP2; organic anion transporter B; organic anion transporter polypeptide-related protein 2; organic anion transporting polypeptide 2B1; solute carrier family 21 (organic anion transporter), member 9; solute carrier organic anion transporter family member 2B1 isoform 2", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); liver cancer (Disease Ontology:DOID:3571)", "pathway": " (hsa:11309); (R-HSA-879518)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10358072;10601278;10873595;11159893;11237011;11316767;11932330;12130747;12351693;12409283;12724351;14610227;14993604;16754786;16908597;16959974;16971491;18501590;19129463;19797118;20166139;20507927;22201122;23186163;23531488;24275569;25132355;25527620;25892735;26277985;26383540;27576593;28408210;29393594;29769354;29786170;29871943;30343886;31154438;31844290;31848261;32162841;33043033;34628357;35307651;35714613;36253893;37854627;37856781;37938771;38423481;38432624;8787677", "class_list": "", "function": "Genetic Polymorphisms in SLCO2B1 and ABCC1 Conjointly Modulate Atorvastatin Intracellular Accumulation in HEK293 Recombinant Cell Lines., [RefSeq, PubMed]; Genetic polymorphisms: allele frequencies in the Japanese population and functional analysis GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Has estrone 3-sulfate (E1S) transport activity comparable with the full-length isoform 1., [UniProtKB, PubMed]; Mediates the Na(+)-independent transport of steroid sulfate conjugates and other specific organic anions (PubMed:10873595, PubMed:11159893, PubMed:11932330, PubMed:12724351, PubMed:14610227, PubMed:16908597, PubMed:18501590, PubMed:20507927, PubMed:22201122, PubMed:23531488, PubMed:25132355, PubMed:26383540, PubMed:27576593, PubMed:28408210, PubMed:29871943, PubMed:34628357). Responsible for the transport of estrone 3-sulfate (E1S) through the basal membrane of syncytiotrophoblast, highlighting a potential role in the placental absorption of fetal-derived sulfated steroids including the steroid hormone precursor dehydroepiandrosterone sulfate (DHEA-S) (PubMed:11932330, PubMed:12409283). Also facilitates the uptake of sulfated steroids at the basal/sinusoidal membrane of hepatocytes, therefore accounting for the major part of organic anions clearance of liver (PubMed:11159893). Mediates the intestinal uptake of sulfated steroids (PubMed:12724351, PubMed:28408210). Mediates the uptake of the neurosteroids DHEA-S and pregnenolone sulfate (PregS) into the endothelial cells of the blood-brain barrier as the first step to enter the brain (PubMed:16908597, PubMed:25132355). Also plays a role in the reuptake of neuropeptides such as substance P/TAC1 and vasoactive intestinal peptide/VIP released from retinal neurons (PubMed:25132355). May act as a heme transporter that promotes cellular iron availability via heme oxygenase/HMOX2 and independently of TFRC (PubMed:35714613). Also transports heme by-product coproporphyrin III (CPIII), and may be involved in their hepatic disposition (PubMed:26383540). Mediates the uptake of other substrates such as prostaglandins D2 (PGD2), E1 (PGE1) and E2 (PGE2), taurocholate, L-thyroxine, leukotriene C4 and thromboxane B2 (PubMed:10873595, PubMed:14610227, PubMed:19129463, PubMed:29871943, Ref.25). May contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (Probable). Shows a pH-sensitive substrate specificity which may be ascribed to the protonation state of the binding site and leads to a stimulation of substrate transport in an acidic microenvironment (PubMed:14610227, PubMed:19129463, PubMed:22201122). The exact transport mechanism has not been yet deciphered but most likely involves an anion exchange, coupling the cellular uptake of organic substrate with the efflux of an anionic compound (PubMed:19129463, PubMed:20507927, PubMed:26277985). Hydrogencarbonate/HCO3(-) acts as a probable counteranion that exchanges for organic anions (PubMed:19129463). Cytoplasmic glutamate may also act as counteranion in the placenta (PubMed:26277985). An inwardly directed proton gradient has also been proposed as the driving force of E1S uptake with a (H(+):E1S) stoichiometry of (1:1) (PubMed:20507927)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Roles of breast cancer resistance protein and organic anion transporting polypeptide 2B1 in gastrointestinal toxicity induced by SN-38 under inflammatory conditions., [RefSeq, PubMed]; SLCO1B3 and SLCO2B1 genotypes, androgen deprivation therapy, and prostate cancer outcomes: a prospective cohort study and meta-analysis., [RefSeq, PubMed]; The Effects of N-Glycosylation on the Expression and Transport Activity of OATP1A2 and OATP2B1., [RefSeq, PubMed]; This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]., [RefSeq]; Uptake of steroid sulfates by isolated trophoblasts is mediated by OATP-B and OAT-4 suggesting a physiological role of both carrier proteins in placental uptake of fetal-derived steroid sulfates., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 4, "reported_mutagensis": 58, "reported_glycation": 0, "reported_snv": 23, "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": "A0A024R5I4;A8K2G9;B4DGA9;B4DTB0;E7ERN5;E9PPU8;Q9H2Z0;Q9UFU1", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015125 bile acid transmembrane transporter activity;GO:0015291 secondary active transmembrane transporter activity;GO:0015132 prostaglandin transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0009925 basal plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0055085 transmembrane transport;GO:0015721 bile acid and bile salt transport;GO:0006805 xenobiotic metabolic process;GO:0015711 organic anion transport", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "O94956-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95238-1", "uniprot_id": [ { "id": "SPDEF_HUMAN", "url": "https://www.uniprot.org/uniprot/O95238", "type": "external" } ], "mass": 37518.0, "length": 335, "protein_name": "SAM pointed domain-containing Ets transcription factor", "gene_name": "SPDEF", "organism": "Human", "refseq_name": "SAM pointed domain-containing Ets transcription factor isoform 2", "refseq_ac": [ { "id": "NP_001239223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239223", "type": "external" } ], "gene_names_uniprotkb": "SPDEF; PDEF; PSE", "gene_names_refseq": "PDEF; SPDEF; bA375E1.3", "protein_names_uniprotkb": "SAM pointed domain-containing Ets transcription factor; Prostate epithelium-specific Ets transcription factor; Prostate-derived Ets factor; Prostate-specific Ets", "protein_names_refseq": "SAM pointed domain-containing Ets transcription factor isoform 2; SAM pointed domain-containing Ets transcription factor; prostate epithelium-specific Ets transcription factor; prostate-derived Ets factor; prostate-specific Ets", "tax_id": 9606, "disease": "ovarian cancer (Disease Ontology:DOID:2394)", "pathway": " (hsa:25803)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10625666;10675039;11809674;12700667;15882048;20550708;26885618;27862975;31530632;33968037;34087483;34667150;35051231;35318648;35951453;37515878;37633945;37900138", "class_list": "", "function": "Lactobacillus rhamnosus 76 alleviates airway inflammation in ovalbumin-allergic mice and improves mucus secretion by down-regulating STAT6/SPDEF pathway., [RefSeq, PubMed]; May function as an androgen-independent transactivator of the prostate-specific antigen (PSA) promoter. Binds to 5'-GGAT-3' DNA sequences. May play a role in the regulation of the prostate gland and/or prostate cancer development. Acts as a transcriptional activator for SERPINB5 promoter., [UniProtKB, PubMed]; NKX-3.1 interacts with prostate-derived Ets factor and regulates the activity of the PSA promoter., [RefSeq, PubMed]; PDEF upregulates p62 promoter activity at 2 sites. PSI downregulates PDEF-induced p62 promoter activation through one of these sites., [RefSeq, PubMed]; Regulation of SPDEF expression by DNA methylation in advanced prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; SPDEF enhances cancer stem cell-like properties and tumorigenesis through directly promoting GALNT7 transcription in luminal breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; SPDEF suppresses head and neck squamous cell carcinoma progression by transcriptionally activating NR4A1. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; The role of SPDEF in cancer: promoter or suppressor. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4DWH8;F5H778", "ec_number_list": [], "go_molecular_function": "GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O95238-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CW21-1", "uniprot_id": [ { "id": "SPGOS_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CW21", "type": "external" } ], "mass": 6167.0, "length": 52, "protein_name": "Putative uncharacterized protein SPART-AS1", "gene_name": "SPART-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SPART-AS1; C13orf43; SPG20-AS1; SPG20OS", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SPART-AS1; SPART antisense RNA 1; SPG20 antisense RNA 1; SPG20 opposite strand transcript protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0CW21-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMN0-1", "uniprot_id": [ { "id": "ST1A4_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMN0", "type": "external" } ], "mass": 34196.0, "length": 295, "protein_name": "Sulfotransferase 1A4", "gene_name": "SULT1A4", "organism": "Human", "refseq_name": "sulfotransferase 1A4", "refseq_ac": [ { "id": "NP_001017390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017390", "type": "external" } ], "gene_names_uniprotkb": "SULT1A4", "gene_names_refseq": "HAST3; M-PST; ST1A3/ST1A4; ST1A3; ST1A4; STM; SULT1A4; TL-PST", "protein_names_uniprotkb": "Sulfotransferase 1A4; 2.8.2.1; Aryl sulfotransferase 1A3/1A4; ST1A4; Sulfotransferase 1A3/1A4", "protein_names_refseq": "SLX1B-SULT1A4; Sulfotransferase 1A3; aryl sulfotransferase 1A3/1A4; catecholamine-sulfating phenol sulfotransferase; monoamine-sulfating phenol sulfotransferase; placental estrogen sulfotransferase; sulfokinase; sulfotransferase 1A4; sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4; sulfotransferase, monoamine-preferring; thermolabile phenol sulfotransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:445329); (hsa:6818); (R-HSA-156584); (R-HSA-9753281)", "pathway_count": 4, "publication_count": 66, "publication_id_list": "10199779;10224133;10503886;10512730;10741631;11077054;11154739;11457664;11714888;11739018;12039030;12145317;12372849;12473676;12889478;14622112;14672934;15358107;16696573;17627974;17924658;18232020;18357469;18606703;18672380;19463;19842618;20190787;21666065;21712391;22349737;22406294;2268288;23479625;23481380;23682772;2573352;26049587;26067475;29524394;29557506;29705271;30833945;31145702;31154438;31848261;32472168;3395122;37217939;6139755;6770210;6950087;70646;7469630;7678732;7779757;8185618;8697101;8813074;9024171;9034160;9080;9463486;9501187;9566739;9852044", "class_list": "", "function": "Effects of human SULT1A3/SULT1A4 genetic polymorphisms on the sulfation of acetaminophen and opioid drugs by the cytosolic sulfotransferase SULT1A3, [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 encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]., [RefSeq]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, (R)-adrenaline/epinephrine, (R)-noradrenaline/norepinephrine and serotonin) and phenolic and catechol drugs (PubMed:15358107, PubMed:29524394). Catalyzes the sulfation of T4 (L-thyroxine/3,5,3',5'-tetraiodothyronine), T3 (3,5,3'-triiodothyronine), rT3 (3,3',5'-triiodothyronine) and 3,3'-T2 (3,3'-diiodothyronine), with a substrate preference of 3,3'-T2 > rT3 > T3 > T4 (PubMed:10199779)., [UniProtKB, PubMed, PubMed, PubMed]; The results obtained showed clearly the differential enzymatic characteristics of SULT1A3 allozymes in mediating the sulfation of phenylephrine and salbutamol. This information may contribute toward a better understanding of the pharmacokinetics of these two drugs in individuals with distinct SULT1A3 and/or SULT1A4 genotypes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B4DNV0;O95603;P50224;Q1ET66;Q6ZWJ5", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0004062 aryl sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051923 sulfation;GO:0042428 serotonin metabolic process;GO:0042417 dopamine metabolic process;GO:0042415 norepinephrine metabolic process;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P0DMN0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30872-1", "uniprot_id": [ { "id": "SSR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30872", "type": "external" } ], "mass": 42686.0, "length": 391, "protein_name": "Somatostatin receptor type 1", "gene_name": "SSTR1", "organism": "Human", "refseq_name": "somatostatin receptor type 1", "refseq_ac": [ { "id": "NP_001040", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001040", "type": "external" } ], "gene_names_uniprotkb": "SSTR1", "gene_names_refseq": "SRIF-2; SS-1-R; SS1-R; SS1R; SST1; SSTR1", "protein_names_uniprotkb": "Somatostatin receptor type 1; SRIF-2; SS-1-R; SS1-R; SS1R; SST1", "protein_names_refseq": "somatostatin receptor type 1", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:6751); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10581079;10604470;10734105;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;20934997;23446738;23690594;24906252;2534964;2649896;2748346;27496565;2834384;3202875;32161166;33491286;3366244;33675866;35014332;35051231;3525564;3856870;39197921;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Expression Analysis of SSTR 1, 2 and 3 in Small-cell Lung Cancer Patients as Targets for Future Peptide Receptor Radionuclide Therapy., [RefSeq, PubMed]; Predictive and prognostic significance of tumour subtype, SSTR1-5 and e-cadherin expression in a well-defined cohort of patients with acromegaly., [RefSeq, PubMed]; Receptor for somatostatin with higher affinity for somatostatin-14 than -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and Na(+)/H(+) exchanger via pertussis toxin insensitive G proteins., [UniProtKB]; Selectivity Comparison of Tumor-Imaging Probes Designed Based on Various Tumor-Targeting Strategies: A Proof of Concept Study., [RefSeq, PubMed]; Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. The protein encoded by this gene is a member of the superfamily of somatostatin receptors having seven transmembrane segments. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This somatostatin receptor has greater affinity for somatostatin-14 than -28. [provided by RefSeq, Jul 2012]., [RefSeq]; The impact of SST2 trafficking and signaling in the treatment of pancreatic neuroendocrine tumors. Review article, [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": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004994 somatostatin receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0007283 spermatogenesis;GO:0008285 negative regulation of cell population proliferation;GO:0030900 forebrain development;GO:0042594 response to starvation", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P30872-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31391-1", "uniprot_id": [ { "id": "SSR4_HUMAN", "url": "https://www.uniprot.org/uniprot/P31391", "type": "external" } ], "mass": 42003.0, "length": 388, "protein_name": "Somatostatin receptor type 4", "gene_name": "SSTR4", "organism": "Human", "refseq_name": "somatostatin receptor type 4", "refseq_ac": [ { "id": "NP_001043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001043", "type": "external" } ], "gene_names_uniprotkb": "SSTR4", "gene_names_refseq": "SS-4-R; SS4-R; SS4R; SST4; SSTR4", "protein_names_uniprotkb": "Somatostatin receptor type 4; SS-4-R; SS4-R; SS4R; SST4", "protein_names_refseq": "G-protein coupled receptor; somatostatin receptor type 4", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:6754); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23481700;23690594;24397554;24906252;2534964;25892735;25962406;26474434;2649896;2748346;27496565;2834384;3202875;33096776;3366244;33916620;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8100352;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8483934;8503909;8512564;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "An immunohistochemical investigation of the expression of somatostatin receptor subtypes, [RefSeq, PubMed]; Characterization of Neurons Expressing the Novel Analgesic Drug Target Somatostatin Receptor 4 in Mouse and Human Brains. Publication Status: Online-Only, [RefSeq, PubMed]; Data showed that the distribution of somatostatin receptor (SSTR) subtypes among the 199 pancreatic neuroendocrine tumors (PNETs) was: SSTR2 (54.8%), SSTR1 (53.3%), SSTR4 (51.8%), SSTR5 (33.7%), and SSTR3 (28.6%)., [RefSeq, PubMed]; Human Somatostatin SST4 Receptor Transgenic Mice: Construction and Brain Expression Pattern Characterization. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibits adenylyl cyclase. It is functionally coupled not only to inhibition of adenylate cyclase, but also to activation of both arachidonate release and mitogen-activated protein (MAP) kinase cascade. Mediates antiproliferative action of somatostatin in tumor cells., [UniProtKB]; Somatostatin acts at many sites to inhibit the release of many hormones and other secretory proteins. The biologic effects of somatostatin are probably mediated by a family of G protein-coupled receptors that are expressed in a tissue-specific manner. SSTR4 is a member of the superfamily of receptors having seven transmembrane segments and is expressed in highest levels in fetal and adult brain and lung. [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": 36, "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": "Q17RM1;Q17RM3;Q9UIY1", "ec_number_list": [], "go_molecular_function": "GO:0004994 somatostatin receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0071385 cellular response to glucocorticoid stimulus", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P31391-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36952-1", "uniprot_id": [ { "id": "SPB5_HUMAN", "url": "https://www.uniprot.org/uniprot/P36952", "type": "external" } ], "mass": 42100.0, "length": 375, "protein_name": "Serpin B5", "gene_name": "SERPINB5", "organism": "Human", "refseq_name": "serpin B5", "refseq_ac": [ { "id": "NP_002630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002630", "type": "external" } ], "gene_names_uniprotkb": "SERPINB5; PI5", "gene_names_refseq": "PI5; SERPINB5; maspin", "protein_names_uniprotkb": "Serpin B5; Maspin; PI-5; Peptidase inhibitor 5", "protein_names_refseq": "PI-5; peptidase inhibitor 5; protease inhibitor 5 (maspin); serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5; serpin B5; serpin peptidase inhibitor, clade B (ovalbumin), member 5", "tax_id": 9606, "disease": "alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:5268)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;15760906;16049006;20068231;20363977;21365746;23481700;25576301;26375851;29242379;30397120;30779550;31844290;32161166;33465208;33912179;33981976;34624458;37329546;38251657;38460302;38477878;40596516;7797587;8290962", "class_list": "", "function": "Association and functional significance of genetic variants present in regulatory elements of SERPINB5 gene in gallbladder cancer., [RefSeq, PubMed]; DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5., [RefSeq, PubMed]; Effect of Maspin Gene Methylation Induced by Specific shRNA Sequences on the Proliferation of Oral Squamous Cell Carcinoma HN13 Cells. Publication Status: Online-Only, [RefSeq, PubMed]; SERPINB5 promotes colorectal cancer invasion and migration by promoting EMT and angiogenesis via the TNF-alpha/NF-kappaB pathway., [RefSeq, PubMed]; The Role of Galectin3, Tubulinbeta, and Maspin in Promoting Tumor Budding in Colorectal Carcinoma and Their Clinical Implications., [RefSeq, PubMed]; Tumor suppressor. It blocks the growth, invasion, and metastatic properties of mammary tumors. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity., [UniProtKB]", "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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R6Y4;Q6N0B4;Q8WW89", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0009986 cell surface;GO:0045177 apical part of cell;GO:0001533 cornified envelope", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P36952-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36956-1", "uniprot_id": [ { "id": "SRBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P36956", "type": "external" } ], "mass": 121675.0, "length": 1147, "protein_name": "Sterol regulatory element-binding protein 1", "gene_name": "SREBF1", "organism": "Human", "refseq_name": "sterol regulatory element-binding protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001005291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005291", "type": "external" } ], "gene_names_uniprotkb": "SREBF1; BHLHD1; SREBP1", "gene_names_refseq": "HMD; IFAP2; SREBF1; SREBP1; bHLHd1", "protein_names_uniprotkb": "Sterol regulatory element-binding protein 1; Class D basic helix-loop-helix protein 1; SREBP-1; Sterol regulatory element-binding transcription factor 1; Transcription factor SREBF1; bHLHd1", "protein_names_refseq": "class D basic helix-loop-helix protein 1; sterol regulatory element-binding protein 1 isoform 1", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); heart conduction disease (Disease Ontology:DOID:10273); alcoholic hepatitis (Disease Ontology:DOID:12351); alcohol use disorder (Disease Ontology:DOID:1574); coronary artery disease (Disease Ontology:DOID:3393); kidney disease (Disease Ontology:DOID:557); type 2 diabetes mellitus (Disease Ontology:DOID:9352); lipid storage disease (Disease Ontology:DOID:9455); diabetic neuropathy (Disease Ontology:DOID:9743); hereditary mucoepithelial dysplasia (MONDO:MONDO:0008017); IFAP syndrome 2 (MONDO:MONDO:0100221)", "pathway": " (hsa:6720); (R-HSA-6807062); (R-HSA-9615017); (R-HSA-9933387)", "pathway_count": 4, "publication_count": 155, "publication_id_list": "10.1038/emboj.2013.79;10102273;10217147;10358014;10369263;10480625;10913147;10915800;11237011;11477106;11779849;12177166;12202038;12239572;12377782;12829805;14404284;16381800;16783365;16784888;16825193;16840535;16880739;17081983;18267114;18507432;18669648;19126544;19244231;1971514;21285510;21459323;21536589;23050906;23186163;23481700;23584533;24028821;24040102;24366607;24715725;25418920;25576301;25645385;26154972;26311497;26375851;26759235;26853435;26992070;27547294;27579997;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28849786;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30418433;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31375868;31530632;31790666;31844290;31848261;31887541;31937595;31998317;32157095;32161166;32322062;32350084;32357974;32387766;32488085;32497488;32502341;32830957;32897882;32902915;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;35862218;36010968;36215666;36241641;36284347;39169280;39225567;39294274;39390072;7759101;8060328;8156598;8402897;8619637;8622974;8626610;8797093;9062340;9634703", "class_list": "", "function": "CLDN6 inhibits breast cancer growth and metastasis through SREBP1-mediated RAS palmitoylation. Publication Status: Online-Only, [RefSeq, PubMed]; CTBP1 links metabolic syndrome to polycystic ovary syndrome through interruption of aromatase and SREBP1. Publication Status: Online-Only, [RefSeq, PubMed]; FUT2 promotes colorectal cancer metastasis by reprogramming fatty acid metabolism via YAP/TAZ signaling and SREBP-1. Publication Status: Online-Only, [RefSeq, PubMed]; Isoform expressed only in select tissues, which has higher transcriptional activity compared to SREBP-1C (By similarity). Able to stimulate both lipogenic and cholesterogenic gene expression (PubMed:12177166, PubMed:32497488). Has a role in the nutritional regulation of fatty acids and triglycerides in lipogenic organs such as the liver (By similarity). Required for innate immune response in macrophages by regulating lipid metabolism (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis and lipid homeostasis (PubMed:12177166, PubMed:32322062, PubMed:8402897). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3') (PubMed:12177166, PubMed:8402897). Regulates the promoters of genes involved in cholesterol biosynthesis and the LDL receptor (LDLR) pathway of sterol regulation (PubMed:12177166, PubMed:32322062, PubMed:8402897)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Platelet-Derived Growth Factor C Facilitates Malignant Behavior of Pancreatic Ductal Adenocarcinoma by Regulating SREBP1 Mediated Lipid Metabolism., [RefSeq, PubMed]; Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Predominant isoform expressed in most tissues, which has weaker transcriptional activity compared to isoform SREBP-1A (By similarity). Primarily controls expression of lipogenic gene (PubMed:12177166). Strongly activates global lipid synthesis in rapidly growing cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; The absence of Golgi proteolytic processing requirement makes this isoform constitutively active in transactivation of lipogenic gene promoters., [UniProtKB, PubMed]; This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 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": 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": 31, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 2, "disease_count": 14, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B0I4X3;B0I4X4;D3DXC4;Q16062;Q59F52;Q6P4R7;Q6PFW7;Q6PJ36;Q8TAK9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006629 lipid metabolic process;GO:0007584 response to nutrient;GO:0008203 cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "P36956-1", "record_type": "protein", "filter_code": "1000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52788-1", "uniprot_id": [ { "id": "SPSY_HUMAN", "url": "https://www.uniprot.org/uniprot/P52788", "type": "external" } ], "mass": 41268.0, "length": 366, "protein_name": "Spermine synthase", "gene_name": "SMS", "organism": "Human", "refseq_name": "spermine synthase isoform 2", "refseq_ac": [ { "id": "NP_001245352", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245352", "type": "external" } ], "gene_names_uniprotkb": "SMS", "gene_names_refseq": "MRSR; MRXSSR; SMS; SPMSY; SRS; SpS", "protein_names_uniprotkb": "Spermine synthase; 2.5.1.22; SPMSY; Spermidine aminopropyltransferase", "protein_names_refseq": "spermidine aminopropyltransferase; spermine synthase isoform 2", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability Snyder type (Disease Ontology:DOID:0060802); anxiety disorder (Disease Ontology:DOID:2030)", "pathway": " (hsa:6611); (R-HSA-351202)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10623504;11237011;11583147;11782012;12665801;14508504;15592455;17407445;17585781;18367445;18550699;19206178;20068231;2069720;22612257;23186163;23481700;23696453;23897707;24366607;24680889;24715725;25418920;25505266;25576301;25645385;26154972;26811146;26992070;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28411811;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;29786170;29789417;30315122;30379171;30410026;30484775;30524438;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32488085;32502341;32838743;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34725712;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38473716;38665916;38740758;40914422;7546290;9299240", "class_list": "", "function": "A missense mutation, p. V132G, in the X-linked SMS gene causes Snyder-Robinson syndrome., [RefSeq, PubMed]; Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Effects of Spermine Synthase Deficiency in Mesenchymal Stromal Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase. Publication Status: Online-Only, [RefSeq, PubMed]; Reduction of spermine synthase enhances autophagy to suppress Tau accumulation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]., [RefSeq]; Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NHA7;A6NI34;B2R9M0;O00544;Q9UQS1", "ec_number_list": [ { "id": "2.5.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.22", "type": "external" } ], "go_molecular_function": "GO:0016768 spermine synthase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006597 spermine biosynthetic process;GO:0006555 methionine metabolic process;GO:0006595 polyamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "P52788-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06520-1", "uniprot_id": [ { "id": "ST2A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06520", "type": "external" } ], "mass": 33780.0, "length": 285, "protein_name": "Sulfotransferase 2A1", "gene_name": "SULT2A1", "organism": "Human", "refseq_name": "sulfotransferase 2A1", "refseq_ac": [ { "id": "NP_003158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003158", "type": "external" } ], "gene_names_uniprotkb": "SULT2A1; HST; STD", "gene_names_refseq": "DHEA-ST8; DHEA-ST; DHEAS; HST; ST2A1; ST2A3; ST2; STD; SULT2A1; SULT2A3; hSTa", "protein_names_uniprotkb": "Sulfotransferase 2A1; 2.8.2.14; 2.8.2.2; Bile salt sulfotransferase; DHEA-ST8; DHEA-ST; Dehydroepiandrosterone sulfotransferase; HST; Hydroxysteroid Sulfotransferase; ST2A1; ST2; SULT2A3", "protein_names_refseq": "alcohol/hydroxysteroid sulfotransferase; bile-salt sulfotranasferase 2A1; sulfotransferase 2A1; sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:6822); (R-HSA-156584); (R-HSA-1989781); (R-HSA-9753281)", "pathway_count": 4, "publication_count": 103, "publication_id_list": "10199779;10224133;10503886;10512730;10741631;10777541;10854859;11077054;11154739;11267664;11457664;11714888;11739018;11988089;12039030;12118000;12145317;12177166;12372849;12473676;12505311;12582161;12889478;14573603;14622112;14672934;15067378;15130092;1520333;15358107;15635043;1588921;16380219;16696573;16972786;17627974;17924658;18042734;18232020;18357469;18540824;18606703;18672380;18719978;18848529;19088433;19463;19589875;19710929;19842618;19934321;20102295;20110263;20166139;20190787;21187059;21666065;21712391;22349737;22406294;2268288;23479625;23481380;23682772;24196956;24275569;2573352;26049587;26067475;29671343;29743239;32472168;32649998;3395122;35580925;37074911;38411862;6139755;6770210;6950087;70646;7469630;7589785;7598806;7678732;7685352;7710689;7779757;7854148;7892212;8185618;8647822;8697101;8813074;9012850;9024171;9034160;9080;9463486;9501187;9566739;9748239;9852044", "class_list": "", "function": "3-Epi-25-hydroxyvitamin D3 is a poor substrate for SULT2A1: Analysis of its 3-sulfate in cord plasma and recombinant human SULT2A1 incubate., [RefSeq, PubMed]; An integrated investigation of sulfotransferases (SULTs) in hepatocellular carcinoma and identification of the role of SULT2A1 on stemness., [RefSeq, PubMed]; Energy-dependent scoring of docking solutions identified the interaction as specific for the PAPSS2 and SULT2A1 isoforms, [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands (PubMed:14573603, PubMed:18042734, PubMed:19589875, PubMed:20102295, PubMed:21187059, PubMed:2268288, PubMed:29671343, PubMed:7678732, PubMed:7854148). Mediates the sulfation of a wide range of steroids and sterols, including pregnenolone, androsterone, DHEA, bile acids, cholesterol and as well many xenobiotics that contain alcohol and phenol functional groups (PubMed:14573603, PubMed:18042734, PubMed:19589875, PubMed:20102295, PubMed:21187059, PubMed:2268288, PubMed:29671343, PubMed:7678732, PubMed:7854148). Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Plays an important role in maintening steroid and lipid homeostasis (PubMed:14573603, PubMed:19589875, PubMed:21187059). Plays a key role in bile acid metabolism, mediating formation of 3-sulfated bile acids (PubMed:2268288, PubMed:20102295). In addition, catalyzes the metabolic activation of potent carcinogenic polycyclic arylmethanols (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary 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": 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": 5, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.8.2.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.n2", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0004027 alcohol sulfotransferase activity;GO:0047704 bile-salt sulfotransferase activity;GO:0050294 steroid sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051923 sulfation;GO:0008203 cholesterol metabolic process;GO:0016042 lipid catabolic process;GO:0006068 ethanol catabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q06520-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3KNW5-1", "uniprot_id": [ { "id": "SOAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3KNW5", "type": "external" } ], "mass": 41259.0, "length": 377, "protein_name": "Sodium-dependent organic anion transporter", "gene_name": "SLC10A6", "organism": "Human", "refseq_name": "sodium-dependent organic anion transporter", "refseq_ac": [ { "id": "NP_932069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_932069", "type": "external" } ], "gene_names_uniprotkb": "SLC10A6; SOAT", "gene_names_refseq": "SLC10A6; SOAT", "protein_names_uniprotkb": "Sodium-dependent organic anion transporter; SLC10A6; SOAT; Solute carrier family 10 member 6", "protein_names_refseq": "sodium-dependent organic anion transporter; solute carrier family 10 (sodium/bile acid cotransporter family), member 6; solute carrier family 10 (sodium/bile acid cotransporter), member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:345274); (R-HSA-9958517)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "17491011;23667501;24714562;24717977;26992070;28893621;28951225;28951227;29242379;29557506;29786170;31844290;33141586;33392160", "class_list": "", "function": "SOAT genetic variants L44P, Q75R, P107L, G109S, S112F, N113K, S133F, G241D, G263E, G294R, and Y308N showed no transport activity for dehydroepiandrosterone sulfate at all. In the case of P107L, G241D, G263E, and Y308N, this was most likely due to significantly reduced expression in the plasma membrane., [RefSeq, PubMed]; SOAT substrates from the group of sulfated steroids are characterized by a planar and lipophilic steroid backbone in trans-trans-trans conformation of the rings and a negatively charged mono-sulfate group at positions 3' or 17' with flexibility for alpha- or beta- orientation. Furthermore, 5alpha-reduction, 16alpha-hydroxylation, and 17alpha-hydroxylation are acceptable for SOAT substrate recognition, whereas addition ..., [RefSeq, PubMed]; SOAT-L204F polymorphism was found in men with normal spermatogenesis and with hypospermatogenesisSOAT-L204F polymorphism showed impaired membrane expression.The SOAT-L204F polymorphism showed reduced transport activity for dehydroepiandrosterone sulfate., [RefSeq, PubMed]; Transports sulfoconjugated steroid hormones from the extracellular compartment into the cytosol in a sodium-dependent manner without hydrolysis (PubMed:17491011, PubMed:23667501, PubMed:24717977, PubMed:28951227). Steroid sulfate hormones are commonly considered to be biologically inactive metabolites, that may be activated by steroid sulfatases into free steroids (PubMed:23667501, PubMed:24717977). May play an important role by delivering sulfoconjugated steroids to specific target cells in reproductive organs (By similarity). May play a role transporting the estriol precursor 16alpha-hydroxydehydroepiandrosterone 3-sulfate (16a-OH-DHEAS) at the fetal blood vessel endothelium (PubMed:24717977). Can also transport other sulfoconjugated molecules such as taurolithocholic acid-3-sulfate and sulfoconjugated pyrenes (PubMed:17491011)., [UniProtKB, PubMed, PubMed, UniProtKB, 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": 15, "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": "Q70EX7", "ec_number_list": [], "go_molecular_function": "GO:0008508 bile acid:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0043251 sodium-dependent organic anion transport;GO:0015721 bile acid and bile salt transport", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q3KNW5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495Y7-1", "uniprot_id": [ { "id": "SPDE7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495Y7", "type": "external" } ], "mass": 25253.0, "length": 208, "protein_name": "Putative speedy protein E7", "gene_name": "SPDYE7P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SPDYE7P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative speedy protein E7; Speedy protein E7 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:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q495Y7-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MJ70-2", "uniprot_id": [ { "id": "SPDYA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MJ70", "type": "external" } ], "mass": 36463.0, "length": 313, "protein_name": "Speedy protein A", "gene_name": "SPDYA", "organism": "Human", "refseq_name": "speedy protein A isoform 2", "refseq_ac": [ { "id": "NP_001008779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008779", "type": "external" } ], "gene_names_uniprotkb": "SPDYA; SPDY1; SPY1", "gene_names_refseq": "RINGO3; RINGOA; SPDY1; SPDYA; SPY1", "protein_names_uniprotkb": "Speedy protein A; RINGO A; Rapid inducer of G2/M progression in oocytes A; Speedy-1; Spy1; hSpy/Ringo A", "protein_names_refseq": "RINGO A; epididymis secretory sperm binding protein; hSpy/Ringo A; rapid inducer of G2/M progression in oocytes A; speedy homolog A; speedy protein A isoform 2; speedy protein A; speedy-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:245711)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11980914;12839962;12972555;15611625;16951407;28666995;31829284;32602013;32691165;34039995", "class_list": "", "function": "Regulates the G1/S phase transition of the cell cycle by binding and activating CDK1 and CDK2 (PubMed:12972555). Contributes to CDK2 activation without promoting CDK2 phosphorylation, by inducing a conformation change of the CDK2 T-loop that obstructs the substrate-binding cleft prior to kinase activation (PubMed:28666995). Mediates cell survival during the DNA damage process through activation of CDK2 (PubMed:12839962)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Salicylidene acylhydrazides attenuate survival of SH-SY5Y neuroblastoma cells through affecting mitotic regulator Speedy/RINGO and ERK/MAPK-PI3K/AKT signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Speedy/RINGO protein interacts with ERK/MAPK and PI3K/AKT pathways in SH-SY5Y neuroblastoma cells., [RefSeq, PubMed]; The SUN1-SPDYA interaction plays an essential role in meiosis prophase I. Publication Status: Online-Only, [RefSeq, PubMed]; This mouse model demonstrates for the first time that degradation of the cyclin-like protein Spy1 is an essential component of p53-mediated tumour suppression. Targeting cyclin-like protein activity may therefore represent a mechanism of re-sensitizing cells to important cell cycle checkpoints in a therapeutic setting. Publication Status: Online-Only, [RefSeq, PubMed]; This protein mediates protection of mammalian cells against DNA damage., [RefSeq, PubMed]; This study reports that Spy1 expression allows cells to evade checkpoints and apoptosis and suggest that Spy1 regulation of CDK2 is important for the response to DNA damage., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "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": "Q53R05;Q5MJ69", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030295 protein kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0001741 XY body;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0006974 DNA damage response;GO:0000082 G1/S transition of mitotic cell cycle;GO:0007140 male meiotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5MJ70-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IMI6-1", "uniprot_id": [ { "id": "ST1C3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IMI6", "type": "external" } ], "mass": 35889.0, "length": 304, "protein_name": "Sulfotransferase 1C3", "gene_name": "SULT1C3", "organism": "Human", "refseq_name": "sulfotransferase 1C3 isoform 2", "refseq_ac": [ { "id": "NP_001008743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008743", "type": "external" } ], "gene_names_uniprotkb": "SULT1C3", "gene_names_refseq": "ST1C3; SULT1C3", "protein_names_uniprotkb": "Sulfotransferase 1C3; 2.8.2.1; 2.8.2.2; ST1C3", "protein_names_refseq": "sulfotransferase 1C3 isoform 2; sulfotransferase 1C3; sulfotransferase family, cytosolic, 1C, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:442038)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "14676822;17425406;17936463;24335392;24335393;27565680;28992322;32938616;35008409;35051231", "class_list": "", "function": "Exhibits weak sulphating activity and only toward chloro phenols (pentachlorophenol and 3,3',5,5'-tetrachloro-4,4'-biphenyldiol)., [UniProtKB, PubMed]; Our findings are the first to characterize the regulation of human SULT1C2 and SULT1C3 expression by several transcription factor activators., [RefSeq, PubMed]; PPARgamma regulatory network includes SULT1C3 and imply that this enzyme contributes to the control of such PPARgamma-regulated intestinal processes as growth, differentiation, and metabolism., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor. Has sulfotransferase activity towards various substrates, such as bile acids, thyroid hormones and toward xenobiotic compounds such as chloro phenols and hydroxypyrenes. Lithocholic acid appears to be the best substrate among the endogenous compounds tested and 3,3',5,5'-tetrachloro-4,4'-biphenyldiol shows the highest specific activity among the xenobiotic compounds., [UniProtKB, PubMed, PubMed, PubMed]; These data indicate that SULT1C3 is expressed in human intestine. Erratum:[Drug Metab Dispos. 2014 May;42(5):853], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q6IMI5", "ec_number_list": [ { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" } ], "go_molecular_function": "GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0004027 alcohol sulfotransferase activity;GO:0047704 bile-salt sulfotransferase activity;GO:0004062 aryl sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0051923 sulfation;GO:0006629 lipid metabolic process;GO:0008203 cholesterol metabolic process;GO:0006805 xenobiotic metabolic process;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6IMI6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW49-1", "uniprot_id": [ { "id": "SPESP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW49", "type": "external" } ], "mass": 38931.0, "length": 350, "protein_name": "Sperm equatorial segment protein 1", "gene_name": "SPESP1", "organism": "Human", "refseq_name": "sperm equatorial segment protein 1 precursor", "refseq_ac": [ { "id": "NP_663633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_663633", "type": "external" } ], "gene_names_uniprotkb": "SPESP1; PRO1418", "gene_names_refseq": "ESP; SP-ESP; SPESP1", "protein_names_uniprotkb": "Sperm equatorial segment protein 1; ESP; Equatorial segment protein; Glycosylated 38 kDa sperm protein C-7/8; SP-ESP", "protein_names_refseq": "equatorial segment protein; glycosylated 38 kDa sperm protein C-7/8; sperm equatorial segment protein 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:246777)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12773409;12975309;17978344;28832583;31217245;31844290;34009705;35051231;35494241;35580925;36749568", "class_list": "", "function": "A stealth antigen SPESP1, which is epigenetically silenced in tumors, is a suitable target for cancer immunotherapy., [RefSeq, PubMed]; Equatorial segment protein (ESP), a novel 349-amino acid concanavalin-A-binding protein encoded by a two-exon gene (SP-ESP) located on chromosome 15 at q22, has been localized to the equatorial segment of ejaculated human sperm., [RefSeq, PubMed]; Human alloantigen involved in sperm-egg binding and fusion, [RefSeq, PubMed]; Involved in fertilization ability of sperm., [UniProtKB, UniProtKB]; Testosterone enhances taurine synthesis by upregulating androgen receptor and cysteine sulfinic acid decarboxylase expressions in male mouse liver., [RefSeq, PubMed]; The encoded protein is a human alloantigen involved in sperm-egg binding and fusion. [provided by RefSeq, Apr 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NG22;Q8WVH8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0035036 sperm-egg recognition;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0009566 fertilization;GO:0007340 acrosome reaction", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6UW49-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXR4-1", "uniprot_id": [ { "id": "SPA13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXR4", "type": "external" } ], "mass": 34864.0, "length": 307, "protein_name": "Putative serpin A13", "gene_name": "SERPINA13P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SERPINA13P; PRO20043; SERPINA13", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative serpin A13", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12975309;35051231", "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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6UXR4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTT3-1", "uniprot_id": [ { "id": "SSX9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTT3", "type": "external" } ], "mass": 21553.0, "length": 188, "protein_name": "Putative protein SSX9", "gene_name": "SSX9P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SSX9P; SSX9", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein SSX9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "12216073", "class_list": "", "function": "Could act as a modulator of transcription., [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_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": "Q7RTT3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTT6-1", "uniprot_id": [ { "id": "SSX6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTT6", "type": "external" } ], "mass": 21688.0, "length": 188, "protein_name": "Putative protein SSX6", "gene_name": "SSX6P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SSX6P; SSX6", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein SSX6", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12216073;37217939", "class_list": "", "function": "Could act as a modulator of transcription., [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": 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:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q7RTT6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TD4-2", "uniprot_id": [ { "id": "SRCA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TD4", "type": "external" } ], "mass": 54431.0, "length": 473, "protein_name": "Sarcalumenin", "gene_name": "SRL", "organism": "Human", "refseq_name": "sarcalumenin isoform 1 precursor", "refseq_ac": [ { "id": "NP_001092284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092284", "type": "external" } ], "gene_names_uniprotkb": "SRL", "gene_names_refseq": "SAR; SRL", "protein_names_uniprotkb": "Sarcalumenin", "protein_names_refseq": "sarcalumenin isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6345)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "24190977;34087483;35051231;35580925;36899851", "class_list": "", "function": "Sarcoplasmic Reticulum Ca[2+] Buffer Proteins: A Focus on the Yet-To-Be-Explored Role of Sarcalumenin in Skeletal Muscle Health and Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DYT9", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding", "go_cellular_component": "GO:0033017 sarcoplasmic reticulum membrane;GO:0033018 sarcoplasmic reticulum lumen", "go_biological_process": "GO:0002115 store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q86TD4-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86U17-1", "uniprot_id": [ { "id": "SPA11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86U17", "type": "external" } ], "mass": 46989.0, "length": 422, "protein_name": "Serpin A11", "gene_name": "SERPINA11", "organism": "Human", "refseq_name": "serpin A11 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001073920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073920", "type": "external" } ], "gene_names_uniprotkb": "SERPINA11", "gene_names_refseq": "SERPINA11", "protein_names_uniprotkb": "Serpin A11", "protein_names_refseq": "antiproteinase-like 2; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11; serpin A11 isoform 1 precursor; serpin A11; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11", "tax_id": 9606, "disease": "alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:256394)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25880248;29557506;30315122;32265295;32357974;32938616;32983136;33392160;35051231;35580925;38831697", "class_list": "", "function": "SERPINA11 related novel serpinopathy - A perinatal lethal disorder., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RV07", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q86U17-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UG4-1", "uniprot_id": [ { "id": "SO6A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UG4", "type": "external" } ], "mass": 79232.0, "length": 719, "protein_name": "Solute carrier organic anion transporter family member 6A1", "gene_name": "SLCO6A1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 6A1 isoform 1", "refseq_ac": [ { "id": "NP_001275931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275931", "type": "external" } ], "gene_names_uniprotkb": "SLCO6A1; OATP6A1; SLC21A19", "gene_names_refseq": "CT48; GST; OATP-I; OATP6A1; OATPY; SLCO6A1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 6A1; CT48; Cancer/testis antigen 48; GST; Gonad-specific transporter; OATP-I; Organic anion-transporting polypeptide 6A1; Organic anion-transporting polypeptide I; Solute carrier family 21 member 19", "protein_names_refseq": "cancer/testis antigen 48; gonad-specific transporter; organic anion-transporting polypeptide I; solute carrier family 21 member 19; solute carrier organic anion transporter family member 6A1 isoform 1; testicular tissue protein Li 174; testis-specific organic anion transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:133482)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12677006;15546177;19397531;20058876;24715725;25301452;26861727;29557506;32387766;35051231;38740147", "class_list": "", "function": "High OATP6A1 expression is associated with small cell lung cancer., [RefSeq, PubMed]; No association of gene SLCO6A1 rs6878284 with schizophrenia; rs7734060 could be a risk locus for major depressive disorder in the Han Chinese population Erratum:[World J Biol Psychiatry. 2019 Dec;20(10):827. doi: 10.1080/15622975.2017.1344498. PMID: 28699376], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "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": "A6NHC1;Q6ZMY5;Q86UV2;Q8IYU5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016323 basolateral plasma membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0043252 sodium-independent organic anion transport", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q86UG4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZP2-1", "uniprot_id": [ { "id": "ST134_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZP2", "type": "external" } ], "mass": 27407.0, "length": 240, "protein_name": "Putative protein FAM10A4", "gene_name": "ST13P4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ST13P4; FAM10A4", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM10A4; Suppression of tumorigenicity 13 pseudogene 4", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "12079276;15104674;18160138;25469497;27920218;29242379;29493099;31154438;31530632;31848261;31998317;33981976;34357683", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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:0046983 protein dimerization activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8IZP2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5C6-1", "uniprot_id": [ { "id": "SRBD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5C6", "type": "external" } ], "mass": 111776.0, "length": 995, "protein_name": "S1 RNA-binding domain-containing protein 1", "gene_name": "SRBD1", "organism": "Human", "refseq_name": "S1 RNA-binding domain-containing protein 1", "refseq_ac": [ { "id": "NP_060549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060549", "type": "external" } ], "gene_names_uniprotkb": "SRBD1", "gene_names_refseq": "SRBD1", "protein_names_uniprotkb": "S1 RNA-binding domain-containing protein 1", "protein_names_refseq": "S1 RNA-binding domain-containing protein 1; WUGSC:H_NH0576F01.1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55133)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "17081983;18669648;19240061;20068231;20363506;23186163;23481700;23783831;24040232;24366607;24715725;25114211;25218447;25645385;25772364;25892735;26992070;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30379171;30410026;30429286;30484775;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32569157;32897882;32938616;32983136;33298915;33392160;33592498;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36284347;37217939;38169523;38253038;39534244;39955279;40106440;40596516", "class_list": "", "function": "DNA- and histone-binding protein that localizes to the central axes of mitotic chromosomes (PubMed:39955279, PubMed:40106440). Promotes chromosome segregation by facilitating TOP2A recruitment to mitotic chromosomes, thereby preventing anaphase failure (PubMed:39955279). During prophase, safeguards the decatenation process to avoid the formation of difficult-to-resolve DNA structures, preventing chromosome missegregation (PubMed:40106440). Also contributes to the regulation of nucleus pulposus cell senescence (PubMed:38169523)., [UniProtKB, PubMed, PubMed, PubMed]; Dogs and humans share a common susceptibility gene SRBD1 for glaucoma risk. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our genome-wide association study identified SRBD1 and ELOVL5 as new susceptibility genes for (normal tension glaucoma) NTG. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Ophthalmology. 2010 Nov;117(11):2103. Writing Committee fot the Normal Tension Glaucoma Genetic Study of Japan Glaucoma Society [corrected to Writing Committee for the Normal Tension Glaucoma Genetic Study of Japan Glaucoma Society]], [RefSeq, PubMed]; Rs3213787 and rs11884064 not associated with genetic susceptibility to normal-tension glaucoma in a Korean cohort, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q53T56;Q96TA4;Q9NW11", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0006412 translation;GO:0006139 nucleobase-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q8N5C6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDV3-3", "uniprot_id": [ { "id": "SMC1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDV3", "type": "external" } ], "mass": 143789.0, "length": 1235, "protein_name": "Structural maintenance of chromosomes protein 1B", "gene_name": "SMC1B", "organism": "Human", "refseq_name": "structural maintenance of chromosomes protein 1B isoform 2", "refseq_ac": [ { "id": "NP_001278430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278430", "type": "external" } ], "gene_names_uniprotkb": "SMC1B; SMC1L2", "gene_names_refseq": "SMC1BETA; SMC1B; SMC1L2", "protein_names_uniprotkb": "Structural maintenance of chromosomes protein 1B; SMC protein 1B; SMC-1-beta; SMC-1B", "protein_names_refseq": "SMC protein 1B; SMC1 (structural maintenance of chromosomes 1, yeast)-like 1; SMC1 structural maintenance of chromosomes 1-like 2; mitosis-specific chromosome segregation protein like protein beta; structural maintenance of chromosomes protein 1B isoform 2; structural maintenance of chromosomes protein 1B", "tax_id": 9606, "disease": "Cornelia de Lange syndrome 2 (Disease Ontology:DOID:0080506)", "pathway": " (hsa:27127); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11673449;14660695;15125634;15235794;19146767;20634189;23481700;25216700;25892735;26673124;28364521;30379171;8794855;9008167;9285814", "class_list": "", "function": "Data show that structural maintenance of chromosomes protein 1B (SMC1B) is expressed in primary fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; High SMC1B expression is associated with pancreatic cancer., [RefSeq, PubMed]; Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I (By similarity)., [UniProtKB]; SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]., [RefSeq]; Through the translational regulation of novel RNA targets SMC1B and TEX11, DAZL may have a key role in regulating chromosome cohesion and DNA recombination; two processes fundamental in determining oocyte quality and whose establishment in foetal life may support lifelong fertility., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AV46;B0QY23;B0QY24;Q5TIC3;Q6ZUF9;Q9Y3G5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0030893 meiotic cohesin complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000775 chromosome, centromeric region;GO:0000800 lateral element", "go_biological_process": "GO:0051321 meiotic cell cycle;GO:0007062 sister chromatid cohesion;GO:0034089 establishment of meiotic sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8NDV3-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCT7-1", "uniprot_id": [ { "id": "SPP2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCT7", "type": "external" } ], "mass": 64644.0, "length": 592, "protein_name": "Signal peptide peptidase-like 2B", "gene_name": "SPPL2B", "organism": "Human", "refseq_name": "signal peptide peptidase-like 2B isoform 3 precursor", "refseq_ac": [ { "id": "NP_001070706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070706", "type": "external" } ], "gene_names_uniprotkb": "SPPL2B; IMP4; KIAA1532; PSL1", "gene_names_refseq": "IMP-4; IMP4; PSH4; PSL1; SPPL2B", "protein_names_uniprotkb": "Signal peptide peptidase-like 2B; 3.4.23.-; IMP-4; Intramembrane protease 4; PSH4; Presenilin homologous protein 4; Presenilin-like protein 1; SPP-like 2B; SPPL2b", "protein_names_refseq": "SPP-like 2B; intramembrane protease 4; presenilin homologous protein 4; presenilin-like protein 1; signal peptide peptidase-like 2B isoform 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56928); (R-HSA-5357905)", "pathway_count": 2, "publication_count": 128, "publication_id_list": "10.1101/2023.09.13.557529;10521396;10837247;11098060;11181075;11237011;11427719;11577081;12139484;12167698;12709429;14716293;15024054;15258597;15385547;15870263;15998642;16682944;16829951;16829952;16873890;17314102;17702576;17965014;18178551;19114711;19278658;19289468;19416807;19910467;20185725;20219915;20304918;20385093;21235526;21408173;22179575;22194595;22297296;22435550;22848449;23132852;23313255;23384347;23746843;24098568;24190977;24246475;24323043;24715725;24726323;24726327;25505266;25565632;25576301;26344099;26900751;26992070;26997266;27307491;27458237;27545878;27552911;27591049;27846572;27862975;27920218;28506461;28834231;28855257;28904123;28920952;28920954;29242379;29557506;29642005;30146158;30315122;30361438;30420664;30429286;30524438;30819724;30833945;30988283;31154438;31366726;31511692;31611695;31844290;32320653;32350084;32938616;32983136;33141586;33298915;33469115;33592498;33912179;33981976;34087483;34162724;34171305;34211107;34357683;34363755;34433824;34561969;34876703;34932366;35051231;35154160;35251023;35289036;35580925;35941131;36010968;36241641;37074911;37340703;38367747;38665916;39894887;40596516;7531702;7667287;9049422;9065443", "class_list": "", "function": "Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane signal peptides in the hydrophobic plane of the membrane. Functions in ITM2B and TNF processing (PubMed:16829951, PubMed:16829952, PubMed:17965014, PubMed:19114711, PubMed:22194595). Catalyzes the intramembrane cleavage of the anchored fragment of shed TNF (TNF), which promotes the release of the intracellular domain (ICD) for signaling to the nucleus (PubMed:16829951, PubMed:16829952). May play a role in the regulation of innate and adaptive immunity (PubMed:16829952). Catalyzes the intramembrane cleavage of the simian foamy virus processed leader peptide gp18 of the envelope glycoprotein gp130 dependently of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SPP, SPPL2a, -2b, -2c, and -3 probably cleave type II-oriented substrate peptides as shown by consensus analysis, [RefSeq, PubMed]; SPPL2a/b negatively regulates LOX-1 signaling and atherosclerosis., [RefSeq, PubMed]; Signal peptide peptidase-like 2b modulates the amyloidogenic pathway and exhibits an Abeta-dependent expression in Alzheimer's disease., [RefSeq, PubMed]; TfR1 N-terminal fragment is a substrate for intramembrane proteolysis by SPPL2b., [RefSeq, PubMed]; This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "D6W609;O60365;Q567S3;Q8IUH9;Q9BUY6;Q9H3M4;Q9NPN2;Q9P1Z6", "ec_number_list": [ { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0042500 aspartic endopeptidase activity, intramembrane cleaving", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006509 membrane protein ectodomain proteolysis;GO:0050776 regulation of immune response;GO:0031293 membrane protein intracellular domain proteolysis;GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway;GO:0033619 membrane protein proteolysis", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q8TCT7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KF7-1", "uniprot_id": [ { "id": "SMIM8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KF7", "type": "external" } ], "mass": 11059.0, "length": 97, "protein_name": "Small integral membrane protein 8", "gene_name": "SMIM8", "organism": "Human", "refseq_name": "small integral membrane protein 8 isoform 1", "refseq_ac": [ { "id": "NP_001035958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035958", "type": "external" } ], "gene_names_uniprotkb": "SMIM8; C6orf162; DC18", "gene_names_refseq": "C6orf162; SMIM8; dJ102H19.2", "protein_names_uniprotkb": "Small integral membrane protein 8", "protein_names_refseq": "UPF0708 protein C6orf162; small integral membrane protein 8 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57150)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;25576301;27600516;28904123;29557506;30429286;30833945;31154438;31844290;32157095;32488085;33298915;34171305;34932366;35580925;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R4V6;E1P505;Q5TEZ3;Q6NSD2;Q8IZ10", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96KF7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VN1-1", "uniprot_id": [ { "id": "VPS36_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VN1", "type": "external" } ], "mass": 43817.0, "length": 386, "protein_name": "Vacuolar protein-sorting-associated protein 36", "gene_name": "VPS36", "organism": "Human", "refseq_name": "vacuolar protein-sorting-associated protein 36 isoform 3", "refseq_ac": [ { "id": "NP_001269098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269098", "type": "external" } ], "gene_names_uniprotkb": "VPS36; C13orf9; CGI-145; EAP45", "gene_names_refseq": "C13orf9; CGI-145; EAP45; VPS36", "protein_names_uniprotkb": "Vacuolar protein-sorting-associated protein 36; ELL-associated protein of 45 kDa; ESCRT-II complex subunit VPS36", "protein_names_refseq": "ELL-associated protein of 45 kDa; ESCRT-II complex subunit VPS36; vacuolar protein-sorting-associated protein 36 isoform 3; vacuolar protein-sorting-associated protein 36", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:51028); (R-HSA-917729); (R-HSA-9610379)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "11237011;11563910;14505570;14519844;14624836;15075231;15218037;16371348;16973552;17010938;17057716;17714434;18539118;19640981;20682791;21757351;26992070;28832583;28904123;29242379;29493099;29557506;30429286;31022991;31844290;32157095;32350084;32387766;32488085;32897882;32938616;32983136;33141586;33392160;33592498;33912179;33968037;34171305;34357683;34509645;35051231;35251023;35580925;36010968;36241641;37938771", "class_list": "", "function": "As a result of VPS36-ORF3 interaction, Porcine Epidemic Diarrhea Virus replication was substantially suppressed in cells overexpressing VPS36. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. Its ability to bind ubiquitin probably plays a role in endosomal sorting of ubiquitinated cargo proteins by ESCRT complexes. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. Binds phosphoinosides such as PtdIns(3,4,5)P3., [UniProtKB, UniProtKB, UniProtKB]; Mammalian ESCRTII is made up of hVps25p, hVps22p, and hVps36p and may be redundant, cargo-specific, or not required for protein sorting at the multivesicular body, [RefSeq, PubMed]; This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [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": 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": "A8K125;Q3ZCV7;Q5H9S1;Q5VXB6;Q9H8Z5;Q9Y3E3", "ec_number_list": [], "go_molecular_function": "GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0000814 ESCRT II complex;GO:0005634 nucleus;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0006351 DNA-templated transcription;GO:0016236 macroautophagy;GO:0090148 membrane fission", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q86VN1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5V6-1", "uniprot_id": [ { "id": "SAXO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5V6", "type": "external" } ], "mass": 47295.0, "length": 425, "protein_name": "Stabilizer of axonemal microtubules 4", "gene_name": "SAXO4", "organism": "Human", "refseq_name": "stabilizer of axonemal microtubules 4 isoform 2", "refseq_ac": [ { "id": "NP_001164224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164224", "type": "external" } ], "gene_names_uniprotkb": "SAXO4; C11orf66; PPP1R32", "gene_names_refseq": "C11orf66; IIIG9; PPP1R32; SAXO4", "protein_names_uniprotkb": "Stabilizer of axonemal microtubules 4; Protein phosphatase 1 regulatory subunit 32", "protein_names_refseq": "protein phosphatase 1 regulatory subunit 32; stabilizer of axonemal microtubules 4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:220004)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;19389623;33912179;36291193;39894887", "class_list": "", "function": "Is IIIG9 a New Protein with Exclusive Ciliary Function? Analysis of Its Potential Role in Cancer and Other Pathologies. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q4G0P4;Q96M77", "ec_number_list": [], "go_molecular_function": "GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0036126 sperm flagellum;GO:0036064 ciliary basal body;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7Z5V6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5UIP0-1", "uniprot_id": [ { "id": "RIF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5UIP0", "type": "external" } ], "mass": 274466.0, "length": 2472, "protein_name": "Telomere-associated protein RIF1", "gene_name": "RIF1", "organism": "Human", "refseq_name": "telomere-associated protein RIF1 isoform 2", "refseq_ac": [ { "id": "NP_001171134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171134", "type": "external" } ], "gene_names_uniprotkb": "RIF1", "gene_names_refseq": "RIF1", "protein_names_uniprotkb": "Telomere-associated protein RIF1; Rap1-interacting factor 1 homolog", "protein_names_refseq": "RAP1 interacting factor homolog; rap1-interacting factor 1 homolog; telomere-associated protein RIF1 isoform 2; telomere-associated protein RIF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55183); (R-HSA-5693571)", "pathway_count": 2, "publication_count": 184, "publication_id_list": "10.1101/2023.09.13.557529;10572166;10757784;11237011;11493912;11604075;11702069;11955432;12023295;12077346;12186630;12231622;12509254;12897153;12947387;14561766;15177042;15302935;15342490;15451442;15468306;15574327;15583028;15723659;16061182;16093244;16439204;16439205;16600297;16874298;16914548;16959974;16964243;17081983;17290226;17322306;17470781;17525332;17924679;18046455;18077418;18212344;18397950;18452278;18669648;19007248;19413330;19415658;19483192;19505854;19651622;19664995;19690332;19691289;20068230;20068231;20677014;21406692;22179609;22424782;22529269;22898188;23186163;23301498;23306437;23333306;23481700;23505375;23727112;24236237;24366607;24715725;25505266;25512557;25576301;25645385;25802875;25810538;25818648;25841101;25880248;26154972;26375851;26992070;27600516;27846572;27862975;27869121;27893789;27920218;28063628;28218747;28228285;28241136;28510447;28514659;28832583;28834231;28855257;28904123;29203878;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29786170;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31209037;31217245;31222486;31530632;31712441;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34354233;34405274;34509645;34932366;35051231;35318648;35472331;35494241;35513511;35561310;35580925;36010968;36215666;36241641;36284347;36719798;37074911;37437929;37548940;37938771;38244928;38253038;39534244;40596516;40914422;8422676;9259561;9430729;9512523;9826654", "class_list": "", "function": "High RIF1 expression is associated with breast tumors., [RefSeq, PubMed]; Histone chaperone ASF1 acts with RIF1 to promote DNA end joining in BRCA1-deficient cells., [RefSeq, PubMed]; In telophase, hRif1 localized to chromosomes, and in interphase, it was intranuclear. These results define a novel subcellular localization behavior for hRif1 during the cell cycle., [RefSeq, PubMed]; Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs (PubMed:15342490, PubMed:28241136). In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 (PubMed:23333306, PubMed:28241136). Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs (PubMed:28241136). Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs (PubMed:23333306). In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase (PubMed:23333306). Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer., [RefSeq, PubMed]; MiR-30a-5p Enhances Cisplatin Sensitivity by Downregulating RIF1 in Ovarian Cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RIF1 suppresses the formation of single-stranded ultrafine anaphase bridges via protein phosphatase 1., [RefSeq, PubMed]; Rif1 functions in the intra-S-phase checkpoint that serves to slow down DNA synthesis when DNA damage has occurred., [RefSeq, PubMed]; Shedding Light on the Interaction Between Rif1 and Telomeres in Ovarian Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that shares homology with the yeast teleomere binding protein, Rap1 interacting factor 1. This protein localizes to aberrant telomeres may be involved in DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 1, "reported_phosphosites": 75, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A6NC27;C9JBR1;Q5H9R3;Q5UIP2;Q66YK6;Q6PRU2;Q8TE94;Q99772;Q9H830;Q9H9B9;Q9NVP5;Q9Y4R4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031965 nuclear membrane;GO:0051233 spindle midzone;GO:0000793 condensed chromosome", "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:0031509 subtelomeric heterochromatin formation;GO:0043247 telomere maintenance in response to DNA damage;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "Q5UIP0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A49-1", "uniprot_id": [ { "id": "SYAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A49", "type": "external" } ], "mass": 39933.0, "length": 352, "protein_name": "Synapse-associated protein 1", "gene_name": "SYAP1", "organism": "Human", "refseq_name": "synapse-associated protein 1", "refseq_ac": [ { "id": "NP_116185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116185", "type": "external" } ], "gene_names_uniprotkb": "SYAP1; PRO3113", "gene_names_refseq": "BSTA; PRO3113; SAP47; SYAP1", "protein_names_uniprotkb": "Synapse-associated protein 1; BSD domain-containing signal transducer and Akt interactor protein; BSTA", "protein_names_refseq": "BSD domain-containing signal transducer and Akt interactor protein; SAP47 homolog; synapse associated protein 1, SAP47 homolog; synapse-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:94056)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10.1038/emboj.2013.79;11483580;15302935;17081983;17287340;18088087;18452278;18491316;18669648;19007248;19413330;19651622;20068231;21406692;23186163;23300339;23301498;23481700;23584533;24275569;26154972;26768311;26992070;27846572;27920218;28467828;28510447;28832583;28904123;29242379;29393594;29557506;30315122;30429286;30524438;30833945;31020640;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34357683;34509645;34932366;35051231;35154160;35251023;36010968;36215666;36241641", "class_list": "", "function": "Plays a role in adipocyte differentiation by promoting mTORC2-mediated phosphorylation of AKT1 at 'Ser-473' after growth factor stimulation (PubMed:23300339)., [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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q68CP1;Q96C60;Q96JQ6;Q96T20", "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:0048172 regulation of short-term neuronal synaptic plasticity;GO:0030154 cell differentiation;GO:0032869 cellular response to insulin stimulus;GO:0045600 positive regulation of fat cell differentiation;GO:0071902 positive regulation of protein serine/threonine kinase activity", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q96A49-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50225-1", "uniprot_id": [ { "id": "ST1A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50225", "type": "external" } ], "mass": 34165.0, "length": 295, "protein_name": "Sulfotransferase 1A1", "gene_name": "SULT1A1", "organism": "Human", "refseq_name": "sulfotransferase 1A1 isoform a", "refseq_ac": [ { "id": "NP_001046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001046", "type": "external" } ], "gene_names_uniprotkb": "SULT1A1; STP1; STP; SW-cl.88", "gene_names_refseq": "HAST1/HAST2; P-PST 1; P-PST; PST; ST1A1; ST1A3; STP1; STP; SULT1A1; TSPST1; ts-PST", "protein_names_uniprotkb": "Sulfotransferase 1A1; 2.8.2.1; Aryl sulfotransferase 1; HAST1/HAST2; P-PST 1; Phenol sulfotransferase 1; Phenol-sulfating phenol sulfotransferase 1; ST1A1; ST1A3; Thermostable phenol sulfotransferase; Ts-PST", "protein_names_refseq": "aryl sulfotransferase 1; phenol-sulfating phenol sulfotransferase 1; sulfotransferase 1A1 isoform a; sulfotransferase 1A1; sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1; thermostable phenol sulfotransferase1", "tax_id": 9606, "disease": "benign neoplasm (Disease Ontology:DOID:0060072); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); urinary bladder cancer (Disease Ontology:DOID:11054); lung cancer (Disease Ontology:DOID:1324); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung adenocarcinoma (Disease Ontology:DOID:3910)", "pathway": " (hsa:6817); (R-HSA-156584); (R-HSA-9753281)", "pathway_count": 3, "publication_count": 115, "publication_id_list": "10199779;10224133;10503886;10512730;10741631;10762004;11077054;11154739;11237011;11457664;11714888;11739018;12039030;12145317;12165038;12372849;12471039;12473676;12889478;14622112;14642079;14672934;15358107;15377847;16103451;16175316;16221673;16696573;17627974;17924658;18232020;18357469;18368507;18606703;18672380;19126640;19463;19842618;19949855;20190787;20417180;20663177;21666065;21695180;21712391;21723874;22011087;22069470;22349737;22406294;2268288;23479625;23481380;23682772;24763827;25194687;25225888;25469277;2573352;26049587;26067475;26154972;26811146;28589969;28832583;29233949;29557506;29786170;30429286;31217245;32157095;32387766;32472168;33049293;33297275;3395122;34162941;35051231;35165440;35318648;35580925;37217939;38069221;6139755;6770210;6950087;70646;7469630;7581483;7678732;7695643;7779757;7834621;7864863;8033246;8033270;8093002;8185618;8288252;8363592;8423770;8484775;8697101;8813074;8912648;8924211;9024171;9034160;9080;9345314;9463486;9501187;9566739;9852044;9855620", "class_list": "", "function": "Evaluation of a conserved tryptophanyl residue in donor substrate binding and catalysis by a phenol sulfotransferase (SULT1A1)., [RefSeq, PubMed]; Insights into the substrate binding mechanism of SULT1A1 through molecular dynamics with excited normal modes simulations. Publication Status: Online-Only, [RefSeq, PubMed]; Investigating the molecular mechanism of hydroxylated bromdiphenyl ethers to inhibit the thyroid hormone sulfotransferase SULT1A1., [RefSeq, PubMed]; Role of Conformational Dynamics of Sulfotransferases SULT1A1 and SULT1A3 in Substrate Specificity. Publication Status: Online-Only, [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 encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of a wide variety of acceptor molecules bearing a hydroxyl or an amine group. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Displays broad substrate specificity for small phenolic compounds. Plays an important role in the sulfonation of endogenous molecules such as steroid hormones (PubMed:12471039, PubMed:16221673, PubMed:21723874, PubMed:22069470, PubMed:7834621). Mediates the sulfate conjugation of a variety of xenobiotics, including the drugs acetaminophen and minoxidil (By similarity). Mediates also the metabolic activation of carcinogenic N-hydroxyarylamines leading to highly reactive intermediates capable of forming DNA adducts, potentially resulting in mutagenesis (PubMed:7834621). May play a role in gut microbiota-host metabolic interaction. O-sulfonates 4-ethylphenol (4-EP), a dietary tyrosine-derived metabolite produced by gut bacteria. The product 4-EPS crosses the blood-brain barrier and may negatively regulate oligodendrocyte maturation and myelination, affecting the functional connectivity of different brain regions associated with the limbic system (PubMed:35165440). Catalyzes the sulfate conjugation of dopamine (PubMed:8093002). Catalyzes the sulfation of T4 (L-thyroxine/3,5,3',5'-tetraiodothyronine), T3 (3,5,3'-triiodothyronine), rT3 (3,3',5'-triiodothyronine) and 3,3'-T2 (3,3'-diiodothyronine), with a substrate preference of 3,3'-T2 > rT3 > T3 > T4 (PubMed:10199779)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "Q2NL71;Q86U58;Q92818;Q9BVU6;Q9UGG7", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" }, { "id": "2.8.2.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.n2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0050656 3'-phosphoadenosine 5'-phosphosulfate binding;GO:0047894 flavonol 3-sulfotransferase activity;GO:0050294 steroid sulfotransferase activity;GO:0004062 aryl sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0008210 estrogen metabolic process;GO:0051923 sulfation;GO:0006068 ethanol catabolic process;GO:0006805 xenobiotic metabolic process;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P50225-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C035-1", "uniprot_id": [ { "id": "TRIM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C035", "type": "external" } ], "mass": 56338.0, "length": 493, "protein_name": "Tripartite motif-containing protein 5", "gene_name": "TRIM5", "organism": "Human", "refseq_name": "tripartite motif-containing protein 5 isoform alpha", "refseq_ac": [ { "id": "NP_149023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149023", "type": "external" } ], "gene_names_uniprotkb": "TRIM5; RNF88", "gene_names_refseq": "RNF88; TRIM5alpha; TRIM5", "protein_names_uniprotkb": "Tripartite motif-containing protein 5; 2.3.2.27; RING finger protein 88; RING-type E3 ubiquitin transferase TRIM5", "protein_names_refseq": "RING-type E3 ubiquitin transferase TRIM5; ring finger protein 88; tripartite motif protein TRIM5; tripartite motif-containing protein 5 alpha; tripartite motif-containing protein 5 isoform alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:85363); (R-HSA-877300)", "pathway_count": 2, "publication_count": 148, "publication_id_list": "10067896;10986460;11237011;11331580;11972023;12040185;12438563;12446674;12878161;12915721;1396683;14586410;14722222;14985764;1508672;15143187;15249685;15249687;15249690;15322115;15388922;15530433;16237089;16401428;16467876;16474118;16643975;16809279;16956947;17125875;17156811;18312418;18362138;18591661;20049711;20053985;20130243;20304997;20357094;20363976;21035162;21247355;21512569;21512573;21572451;21575904;21632761;21680743;21734049;21866272;22078707;22223895;22291694;22424782;22482711;22544926;22898188;23061660;23186163;23481700;24417533;25127057;25418920;25576301;25892735;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32897882;32938616;32983136;33141586;33239784;33298915;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34561969;34932366;35051231;35154160;35318648;35561310;36010968;36241641;37180175;37558876;37942942;38814780;39066160;39302247;7510216;7514165;7530745;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8483949;8530158;8550631;8631301;9111318;9143706", "class_list": "", "function": "A frequent SNP in TRIM5alpha strongly enhances the innate immune response against LINE-1 elements. Publication Status: Online-Only, [RefSeq, PubMed]; Capsid-specific restriction factor that prevents infection from non-host-adapted retroviruses. Blocks viral replication early in the life cycle, after viral entry but before reverse transcription. In addition to acting as a capsid-specific restriction factor, also acts as a pattern recognition receptor that activates innate immune signaling in response to the retroviral capsid lattice. Binding to the viral capsid triggers its E3 ubiquitin ligase activity, and in concert with the heterodimeric ubiquitin conjugating enzyme complex UBE2V1-UBE2N (also known as UBC13-UEV1A complex) generates 'Lys-63'-linked polyubiquitin chains, which in turn are catalysts in the autophosphorylation of the MAP3K7/TAK1 complex (includes TAK1, TAB2, and TAB3). Activation of the MAP3K7/TAK1 complex by autophosphorylation results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes, thereby leading to an innate immune response in the infected cell. Restricts infection by N-tropic murine leukemia virus (N-MLV), equine infectious anemia virus (EIAV), simian immunodeficiency virus of macaques (SIVmac), feline immunodeficiency virus (FIV), and bovine immunodeficiency virus (BIV) (PubMed:17156811). Plays a role in regulating autophagy through activation of autophagy regulator BECN1 by causing its dissociation from its inhibitors BCL2 and TAB2 (PubMed:25127057). Also plays a role in autophagy by acting as a selective autophagy receptor which recognizes and targets HIV-1 capsid protein p24 for autophagic destruction (PubMed:25127057)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data show that lentivirus susceptibility factor 1 and Ref1 are species-specific variants of tripartite interaction motif 5alpha (TRIM5alpha), a cytoplasmic body component that can block infection by widely divergent retroviruses., [RefSeq, PubMed]; Data show that the human and African green monkey (AGM) TRIM5alpha genes encode Ref1 and Lv1 antiretroviral activities, respectively., [RefSeq, PubMed]; HIV-1 infection is restricted more efficiently by rhesus monkey TRIM5alpha than by human TRIM5alpha GeneRIF: Human TRIM5alpha interacts with HIV-1 p2 capsid protein to partially block HIV infection. Rhesus macaque TRIM5alpha AAS48505.1 provides stronger block to HIV-1., [RefSeq, PubMed]; TBK1 is ubiquitinated by TRIM5alpha to assemble mitophagy machinery., [RefSeq, PubMed]; TRIM5alpha restricts poxviruses and is antagonized by CypA and the viral protein C6., [RefSeq, PubMed]; TRIM5alpha: A Protean Architect of Viral Recognition and Innate Immunity. Review article Publication Status: Online-Only, [RefSeq, PubMed]; TRIM5delta colocalized with BTBD1/2 and appeared to serve as a scaffold for the assembly of endogenous BTBD1/2 proteins, [RefSeq, PubMed]; The effect of TRIM5 variants on the susceptibility to HIV-1 infection and disease progression in the Polish population., [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 forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "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": "A6NGQ1;A8WFA8;D3DQS8;D3DQS9;G3GJY1;Q2MLV4;Q2MLV8;Q2MLV9;Q2MLW1;Q2MLW3;Q2MLW4;Q2MLW6;Q2MLW7;Q2MLX1;Q2MLX2;Q2MLX3;Q2MLX5;Q2MLY3;Q2MLY4;Q2V6Q6;Q6GX26;Q8WU46;Q96SR5;Q9C031;Q9C032;Q9C033;Q9C034", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0046596 regulation of viral entry into host cell;GO:0044790 suppression of viral release by host;GO:0043410 positive regulation of MAPK cascade;GO:0045087 innate immune response;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q9C035-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00322-1", "uniprot_id": [ { "id": "UPK1A_HUMAN", "url": "https://www.uniprot.org/uniprot/O00322", "type": "external" } ], "mass": 28879.0, "length": 258, "protein_name": "Uroplakin-1a", "gene_name": "UPK1A", "organism": "Human", "refseq_name": "uroplakin-1a isoform 2", "refseq_ac": [ { "id": "NP_001268372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268372", "type": "external" } ], "gene_names_uniprotkb": "UPK1A; TSPAN21", "gene_names_refseq": "TSPAN21; UP1A; UPIA; UPK1A; UPKA", "protein_names_uniprotkb": "Uroplakin-1a; Tetraspanin-21; Tspan-21; UP1a; UPIa; UPKa; Uroplakin Ia", "protein_names_refseq": "tetraspanin-21; tspan-21; uroplakin Ia; uroplakin-1a isoform 2; uroplakin-1a", "tax_id": 9606, "disease": "", "pathway": " (hsa:11045); (R-HSA-9638630)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11739641;15913809;23481700;25701463;28218747;33273139;35872365;37468792;9846985", "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 normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity)., [UniProtKB]; Determined the genomic structure of the uroplakin Ia gene and defined the position of a transcriptional start site, [RefSeq, PubMed]; Down-regulation of UPK1A suppresses proliferation and enhances apoptosis of bladder transitional cell carcinoma cells., [RefSeq, PubMed]; Large-scale human tissue analysis identifies Uroplakin 1a as a putative diagnostic marker for urothelial cancer., [RefSeq, PubMed]; Long Noncoding RNA Expression Profiling Reveals Upregulation of Uroplakin 1A and Uroplakin 1A Antisense RNA 1 under Hypoxic Conditions in Lung Cancer Cells., [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 found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3KNU5;Q3KNU6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0120001 apical plasma membrane urothelial plaque;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0030855 epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O00322-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04280-1", "uniprot_id": [ { "id": "PRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04280", "type": "external" } ], "mass": 38562.0, "length": 392, "protein_name": "Basic salivary proline-rich protein 1", "gene_name": "PRB1", "organism": "Human", "refseq_name": "basic salivary proline-rich protein 1 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_005030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005030", "type": "external" } ], "gene_names_uniprotkb": "PRB1", "gene_names_refseq": "PMF; PMS; PM; PRB1L; PRB1M; PRB1", "protein_names_uniprotkb": "Basic salivary proline-rich protein 1; Salivary proline-rich protein", "protein_names_refseq": "BstNI type basic salivary proline-rich protein 1; basic salivary proline-rich protein 1 isoform 1 preproprotein; parotid middle band protein; salivary protein Pe", "tax_id": 9606, "disease": "", "pathway": " (hsa:5542)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;18463091;1849422;20879038;24715725;26375851;27452731;27588265;27726376;27893789;2851479;29242379;29314611;29393594;29557506;29786170;2993301;30429286;30833945;31092671;31154438;31217245;31844290;32157095;32350084;32387766;32938616;32983136;33968037;34087483;34211107;34561969;35051231;3521730;35580925;36581221;6089212;6671974;8317492;8422499", "class_list": "", "function": "MP4 and Prb1 in mouse are closely related with the physiology and pathological processes of the ocular surface, and might ontribute to homeostasis of ocular surface or pathogenesis of diseases like dry eye. 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": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "G5E9X6;Q08805;Q15186;Q15187;Q15214;Q15215;Q16038", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P04280-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54578-1", "uniprot_id": [ { "id": "UBP14_HUMAN", "url": "https://www.uniprot.org/uniprot/P54578", "type": "external" } ], "mass": 56069.0, "length": 494, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 14", "gene_name": "USP14", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 14 isoform b", "refseq_ac": [ { "id": "NP_001032411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032411", "type": "external" } ], "gene_names_uniprotkb": "USP14; TGT", "gene_names_refseq": "TGT; USP14; Ubp6", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 14; 3.4.19.12; Deubiquitinating enzyme 14; Ubiquitin thioesterase 14; Ubiquitin-specific-processing protease 14", "protein_names_refseq": "deubiquitinating enzyme 14; tRNA-guanine transglycosylase, 60-kD subunit; ubiquitin carboxyl-terminal hydrolase 14 isoform b; ubiquitin carboxyl-terminal hydrolase 14; ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase); ubiquitin specific protease 14 (tRNA-guanine transglycosylase); ubiquitin thioesterase 14; ubiquitin thiolesterase 14; ubiquitin-specific processing protease 14", "tax_id": 9606, "disease": "prion disease (Disease Ontology:DOID:649)", "pathway": " (hsa:9097); (R-HSA-5689880); (R-HSA-9758274)", "pathway_count": 3, "publication_count": 171, "publication_id_list": "10444327;10982817;11237011;11566882;11923872;12917689;12917691;14499622;14661020;15053880;15389287;15916963;16211010;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18162577;18172164;18452278;18467330;18632802;18636086;18669648;18767875;19015242;19106094;19135427;19135894;19188362;19363159;19367720;19398555;19424180;19608861;19651622;19664995;19690332;19838211;19874889;19910467;20068231;20096447;20166139;20228808;20368735;20434986;20501646;21239494;21362556;21406692;21571647;21596315;21659512;21703539;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23186163;23395819;23481700;23486064;23824326;23825189;24056413;24260525;24275569;24397554;24493797;24714562;24896179;25197364;25305019;25418920;25576301;25578727;25645385;25810538;25892735;26154972;26240016;26523394;26620909;26728094;26768311;26853435;26992070;27426725;27666593;27846572;27884201;27920218;28228285;28396413;28510447;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30397120;30429286;30524438;30779550;31154438;31373491;31740976;31826938;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33654074;33968037;34019948;34087483;34171305;34211107;34357683;34509645;34725712;34932366;35051231;35145029;35251023;35318648;35494241;35561310;35580925;36215666;36241641;37938771;38631582;38665916;38780644;38891087;38993552;39252535;40596516;40914422;7578059", "class_list": "", "function": "Deubiquitinase USP14 is upregulated in Crohn's disease and inhibits the NOD2 pathway mediated inflammatory response in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes., [UniProtKB, UniProtKB]; Deubiquitination of CIB1 by USP14 promotes lenvatinib resistance via the PAK1-ERK1/2 axis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanistic insights into the role of USP14 in adipose tissue macrophage recruitment and insulin resistance in obesity., [RefSeq, PubMed]; Proteasome-associated deubiquitinase which releases ubiquitin from the proteasome targeted ubiquitinated proteins (PubMed:35145029). Ensures the regeneration of ubiquitin at the proteasome (PubMed:18162577, PubMed:28396413). Is a reversibly associated subunit of the proteasome and a large fraction of proteasome-free protein exists within the cell (PubMed:18162577). Required for the degradation of the chemokine receptor CXCR4 which is critical for CXCL12-induced cell chemotaxis (PubMed:19106094). Also serves as a physiological inhibitor of endoplasmic reticulum-associated degradation (ERAD) under the non-stressed condition by inhibiting the degradation of unfolded endoplasmic reticulum proteins via interaction with ERN1 (PubMed:19135427). Indispensable for synaptic development and function at neuromuscular junctions (NMJs) (By similarity). Plays a role in the innate immune defense against viruses by stabilizing the viral DNA sensor CGAS and thus inhibiting its autophagic degradation (PubMed:27666593). Inhibits OPTN-mediated selective autophagic degradation of KDM4D and thereby negatively regulates H3K9me2 and H3K9me3 (PubMed:35145029)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural Dynamics Analysis of USP14 Activation by AKT-Mediated Phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; The catalytic cleft leading to the active site of USP14 is blocked by two surface loops. Binding by ubiquitin induces a significant conformational change thereby allowing access of the ubiquitin C-terminus to the active site., [RefSeq, PubMed]; This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Usp14 deficiency removes alpha-synuclein by regulating S100A8/A9 in 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": 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": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4N8;J3QRZ5;Q53XY5", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" } ], "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity;GO:0070628 proteasome binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0061578 K63-linked deubiquitinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0050920 regulation of chemotaxis;GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P54578-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5PRF9-1", "uniprot_id": [ { "id": "SMAG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5PRF9", "type": "external" } ], "mass": 75483.0, "length": 694, "protein_name": "Protein Smaug homolog 2", "gene_name": "SAMD4B", "organism": "Human", "refseq_name": "protein Smaug homolog 2 isoform b", "refseq_ac": [ { "id": "NP_001290543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290543", "type": "external" } ], "gene_names_uniprotkb": "SAMD4B; SMAUG2", "gene_names_refseq": "SAMD4B; SMGB; Smaug2", "protein_names_uniprotkb": "Protein Smaug homolog 2; SAM domain-containing protein 4B; Smaug 2; Sterile alpha motif domain-containing protein 4B; hSmaug2", "protein_names_refseq": "SAM domain-containing protein 4B; protein Smaug homolog 2 isoform b; protein Smaug homolog 2; smaug 2; smaug homolog B; sterile alpha motif domain-containing protein 4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55095)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;15302935;16221671;16964243;18452278;18669648;19690332;20068231;20510020;21725060;22424782;22645359;23186163;23301498;23481700;24129315;24275569;24715725;25576301;25645385;25880248;25892735;26154972;26992070;27397612;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30429286;30524438;31844290;32157095;32161166;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33717175;33968037;33981976;34019948;34087483;34109425;34171305;34185709;34357683;34405274;34509645;35051231;35251023;35580925;36010968;36215666;36241641", "class_list": "", "function": "Has transcriptional repressor activity. Overexpression inhibits the transcriptional activities of AP-1, p53/TP53 and CDKN1A., [UniProtKB, PubMed]; MiR451 suppresses the malignant characteristics of colorectal cancer via targeting SAMD4B., [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": 21, "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": "A5Z0M6;Q6P194", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0030371 translation repressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0000932 P-body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening;GO:0043488 regulation of mRNA stability", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q5PRF9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0Z9-1", "uniprot_id": [ { "id": "SOX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0Z9", "type": "external" } ], "mass": 44066.0, "length": 390, "protein_name": "Peroxisomal sarcosine oxidase", "gene_name": "PIPOX", "organism": "Human", "refseq_name": "peroxisomal sarcosine oxidase", "refseq_ac": [ { "id": "NP_057602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057602", "type": "external" } ], "gene_names_uniprotkb": "PIPOX; LPIPOX; PSO", "gene_names_refseq": "LPIPOX; PIPOX", "protein_names_uniprotkb": "Peroxisomal sarcosine oxidase; 1.5.3.1; 1.5.3.7; L-pipecolate oxidase; L-pipecolic acid oxidase; PSO", "protein_names_refseq": "L-pipecolate oxidase; L-pipecolic acid oxidase; PSO; peroxisomal sarcosine oxidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51268); (R-HSA-71064); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10022913;10562279;10642506;10673331;10772957;10775527;10931946;11083877;11101887;11237011;11546814;11781871;11931631;12126930;12456682;12559034;12578380;12717447;12885776;15274622;15545321;15858711;16491085;16854980;17007944;17242435;17726030;18056995;18056996;18359941;18712838;18775954;19197237;19208625;19584060;19632994;19885858;20178365;20634891;21554508;21976670;21980954;22002062;22057399;22241472;22371489;22747494;23963456;24043460;24235149;24865970;25016021;25538232;25854684;25931162;26086376;26138649;26220973;26344566;27597759;28521612;28611990;28765278;28787099;31844290;32265295;32387766;33592498;34509645;35051231;6434529;7719337;7790377;8824437;8858165;8991089;9045710;9090381;9090382;9090383;9539740;9653144;9668159;9837948", "class_list": "", "function": "Metabolizes sarcosine and L-pipecolic acid., [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": 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": "B3KNH0;P79371;Q96H28;Q9C070", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0008115 sarcosine oxidase activity;GO:0050031 L-pipecolate oxidase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006554 lysine catabolic process;GO:0033514 L-lysine catabolic process to acetyl-CoA via L-pipecolate", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9P0Z9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHX4-1", "uniprot_id": [ { "id": "SPTA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHX4", "type": "external" } ], "mass": 20901.0, "length": 192, "protein_name": "Spermatogenesis-associated protein 3", "gene_name": "SPATA3", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 3", "refseq_ac": [ { "id": "NP_620712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620712", "type": "external" } ], "gene_names_uniprotkb": "SPATA3; TSARG1", "gene_names_refseq": "SPATA3; TSARG1", "protein_names_uniprotkb": "Spermatogenesis-associated protein 3; Testis and spermatogenesis cell-related protein 1; Testis spermatocyte apoptosis-related protein 1", "protein_names_refseq": "spermatogenesis-associated protein 3; testis and spermatogenesis cell apoptosis related gene 1; testis and spermatogenesis cell-related protein 1; testis spermatocyte apoptosis-related protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:130560)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;12812072;31429579", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86WX5;Q8N9Y6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NHX4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43173-1", "uniprot_id": [ { "id": "SIA8C_HUMAN", "url": "https://www.uniprot.org/uniprot/O43173", "type": "external" } ], "mass": 43970.0, "length": 380, "protein_name": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "gene_name": "ST8SIA3", "organism": "Human", "refseq_name": "alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3", "refseq_ac": [ { "id": "NP_056963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056963", "type": "external" } ], "gene_names_uniprotkb": "ST8SIA3; SIAT8C", "gene_names_refseq": "SIAT8C; ST8SIA3; ST8SiaIII", "protein_names_uniprotkb": "Alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3; 2.4.3.-; 2.4.3.8; Alpha-2,8-sialyltransferase 8C; Alpha-2,8-sialyltransferase III; Ganglioside GD3 synthase ST8SIA3; SIAT8-C; ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3; ST8SiaIII; Sia-a2,3-Gal-b1,4-Glc-NAc-R:a2,8-sialyltransferase; Sialyltransferase 8C; Sialyltransferase St8Sia III; hST8Sia III", "protein_names_refseq": "SIAT8-C; ST8 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase 3; alpha-2,8-sialyltransferase 8C; alpha-2,8-sialyltransferase III; alpha-N-acetylneuraminate alpha-2,8-sialyltransferase ST8SIA3; ganglioside GD3 synthase ST8SIA3; hST8Sia III; sia-a2,3-Gal-b1,4-Glc-NAc-R:a2,8-sialyltransferase; sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase; sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase); sialyltransferase St8Sia III; sialytransferase St8Sia III", "tax_id": 9606, "disease": "", "pathway": " (hsa:51046); (R-HSA-4085001); (R-HSA-975577)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10191093;10206952;10330343;10334995;10395745;10405317;10431835;10504389;10536037;10570912;10581036;10700233;10742600;10749855;10766765;10861246;10947946;11062056;11237011;11279095;11421344;11425186;11528398;11530204;11588157;11602804;11751519;11901181;11916006;12097641;12177386;12235148;12473780;12603328;12668675;12743242;12765789;14962670;15136692;15213228;15501818;15576474;15939404;16147865;16237198;16434023;16643848;16924681;17006639;17021253;17123352;1714903;17488527;1756715;18632803;18931531;19403558;19797320;20117844;20800603;21081508;22692205;26192331;3136930;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9054414;9199191;9597550;9822625;9826427", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an acceptor, such as N-linked oligosaccharides of glycoproteins and glycolipids through alpha-2,8-linkages (PubMed:10766765, PubMed:26192331, PubMed:9826427). Forms oligosialic and polysialic acid on various sialylated N-acetyllactosamine oligosaccharides of glycoproteins, including FETUB N-glycans, a2-HS-glycoprotein (AHSG) and alpha 2,3-sialylated glycosphingolipids, such as alpha 2,3-sialylparagloboside and ganglioside GM3 and to a lesser extent NCAM1 N-glycans (PubMed:10766765, PubMed:9826427). However, it is much more specific to N-linked oligosaccharides of glycoproteins than glycosphingolipids (By similarity). 2,3-sialylparagloboside serves as the best acceptor substrate among the glycolipids (By similarity). alpha-Neu5Ac-(2->8)-alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-6S-D-GlcNAc and monosialyl and disialyl N-acetyllactosamines are the best acceptor substrates among glycoproteins (PubMed:10766765, PubMed:26192331). May play a critical role in the striatum by mediating the formation of disialylated and trisialylated terminal glycotopes on N- and O-glycans of specific striatal proteins, regulating their distribution in lipid rafts, affecting their interaction with other binding partners, and subsequently modulating striatal functions (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Data indicate that the crystal structure of ST8SiaIII sialyltransferase show a cluster of polysialyltransferase-specific structural motifs that provide an extended electropositive surface groove for binding of oligo-polysialic acid chain products., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These results suggest that the expression of hST8Sia III gene via the PI-3K signaling pathway is enhanced during KCl-induced differentiation of U-87 cells by increasing expression of beta-tubulin III., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 458, "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": "A8K0F2;Q6B085;Q9NS41", "ec_number_list": [ { "id": "2.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.-", "type": "external" }, { "id": "2.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.-", "type": "external" }, { "id": "2.4.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.3.8", "type": "external" } ], "go_molecular_function": "GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity;GO:0042802 identical protein binding;GO:0033691 sialic acid binding;GO:0008373 sialyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0009101 glycoprotein biosynthetic process;GO:0009311 oligosaccharide metabolic process;GO:0009100 glycoprotein metabolic process;GO:0006491 N-glycan processing", "synthesized_glycan_count": 21, "hit_score": 8.4, "record_id": "O43173-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCJ5-1", "uniprot_id": [ { "id": "SPRY3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCJ5", "type": "external" } ], "mass": 49694.0, "length": 442, "protein_name": "SPRY domain-containing protein 3", "gene_name": "SPRYD3", "organism": "Human", "refseq_name": "SPRY domain-containing protein 3", "refseq_ac": [ { "id": "NP_116229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116229", "type": "external" } ], "gene_names_uniprotkb": "SPRYD3", "gene_names_refseq": "SPRYD3", "protein_names_uniprotkb": "SPRY domain-containing protein 3", "protein_names_refseq": "SPRY domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84926)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;20112406;23481700;25418920;25469497;25576301;25645385;25880248;25892735;26154972;26375851;26992070;27600516;27846572;27920218;28063628;28228285;28649982;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30524438;30779550;31154438;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32983136;33141586;33537174;33592498;33717175;33981976;34087483;34185709;34932366;35051231;35580925;36215666;36241641;36284347;36581221;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": 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": "B9EG99;Q96SK5", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q8NCJ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15374-1", "uniprot_id": [ { "id": "UCHL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P15374", "type": "external" } ], "mass": 26183.0, "length": 230, "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L3", "gene_name": "UCHL3", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1", "refseq_ac": [ { "id": "NP_001257881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257881", "type": "external" } ], "gene_names_uniprotkb": "UCHL3", "gene_names_refseq": "UCH-L3; UCHL3", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase isozyme L3; 3.4.19.12; UCH-L3; Ubiquitin thioesterase L3", "protein_names_refseq": "testicular tissue protein Li 221; ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase); ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1; ubiquitin carboxyl-terminal hydrolase isozyme L3; ubiquitin thioesterase L3; ubiquitin thiolesterase", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinson's disease (Disease Ontology:DOID:14330); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:7347); (R-HSA-5689603); (R-HSA-8866652); (R-HSA-8951664)", "pathway_count": 4, "publication_count": 176, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14595809;14690597;14757770;15157086;15282312;15361859;15367669;15531586;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16142244;16171779;16401342;16547496;16647857;16707496;16790436;16906146;16943200;17081101;17132228;17139257;17183367;17220875;17332328;17497243;17525332;17580310;17597759;17785452;18093314;18206966;18353650;18497827;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19047059;19154770;19188440;19250909;19321346;19617556;19748355;19815555;20068231;20166139;20380862;20436459;20805357;21447816;21463634;21762696;21778237;21863050;21940857;22306028;22466964;22537386;22689415;22959436;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24275569;24366543;24636985;24715725;24793695;24793696;2530630;25314029;25349211;25355947;25531226;26235645;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27920218;27941124;28115426;28510447;28514659;28649982;28832583;28834231;28904123;29153394;29242379;29317506;29557506;30559450;30610225;31222486;31844290;32005965;32284348;32897882;32938616;33444648;33592498;33691108;33936100;33968037;34185709;35051231;35318648;35561310;36142702;36241641;36580660;38474064;38664501;38665916;38965582;39226739;40914422;6277905;6305978;7851534;8010951;9233788;9521656;9528852;9790970;9887101;9891082", "class_list": "", "function": "CircMTA2 Drives Gastric Cancer Progression through Suppressing MTA2 Degradation via Interacting with UCHL3. Publication Status: Online-Only, [RefSeq, PubMed]; Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins (PubMed:19154770, PubMed:21762696, PubMed:22689415, PubMed:2530630). Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8 (PubMed:19154770, PubMed:21762696, PubMed:22689415, PubMed:2530630, PubMed:9790970). Has a 10-fold preference for Arg and Lys at position P3'', and exhibits a preference towards 'Lys-48'-linked ubiquitin chains (PubMed:19154770, PubMed:21762696, PubMed:22689415, PubMed:2530630). Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome and is associated with neurodegenerative disorders (By similarity). Involved in DNA repair via homologous recombination (HR) by mediating deubiquitination of RAD51 in response to DNA damage, promoting interaction between RAD51 and BRCA2 (PubMed:27941124). Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling (By similarity). Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis (By similarity). Required for stress-response retinal, skeletal muscle and germ cell maintenance (By similarity). May be involved in working memory (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; GSK3beta and UCHL3 govern RIPK4 homeostasis via deubiquitination to enhance tumor metastasis in ovarian cancer., [RefSeq, PubMed]; Role of UCHL3 in health and disease. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]., [RefSeq]; UCHL3 promotes hepatocellular carcinoma progression by stabilizing EEF1A1 through deubiquitination. 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": 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": "B2R970;Q5TBK8;Q6IBE9", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0019784 deNEDDylase activity;GO:0008233 peptidase activity;GO:0043130 ubiquitin binding;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016579 protein deubiquitination;GO:0043687 post-translational protein modification;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "P15374-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG38-1", "uniprot_id": [ { "id": "POTEI_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG38", "type": "external" } ], "mass": 121282.0, "length": 1075, "protein_name": "POTE ankyrin domain family member I", "gene_name": "POTEI", "organism": "Human", "refseq_name": "POTE ankyrin domain family member I isoform 2", "refseq_ac": [ { "id": "NP_001264335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264335", "type": "external" } ], "gene_names_uniprotkb": "POTEI", "gene_names_refseq": "POTE2beta; POTEI", "protein_names_uniprotkb": "POTE ankyrin domain family member I", "protein_names_refseq": "POTE ankyrin domain family member I isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:653269)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;25645385;25810538;26154972;26375851;30397120;30429286;31844290;32387766;32488085;33912179;35051231;37217939;38665916;39990658", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 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": 28, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0098973 structural constituent of postsynaptic actin cytoskeleton", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0015629 actin cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P0CG38-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35247-1", "uniprot_id": [ { "id": "SFTPD_HUMAN", "url": "https://www.uniprot.org/uniprot/P35247", "type": "external" } ], "mass": 37728.0, "length": 375, "protein_name": "Pulmonary surfactant-associated protein D", "gene_name": "SFTPD", "organism": "Human", "refseq_name": "pulmonary surfactant-associated protein D precursor", "refseq_ac": [ { "id": "NP_003010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003010", "type": "external" } ], "gene_names_uniprotkb": "SFTPD; COLEC7; PSPD; SFTP4", "gene_names_refseq": "COLEC7; PSP-D; SFTP4; SFTPD; SP-D", "protein_names_uniprotkb": "Pulmonary surfactant-associated protein D; Collectin-7; Lung surfactant protein D; PSP-D; SP-D", "protein_names_refseq": "collectin-7; lung surfactant protein D; pulmonary surfactant apoprotein; pulmonary surfactant-associated protein D precursor; pulmonary surfactant-associated protein D; surfactant-associated protein, pulmonary 4", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); pre-malignant neoplasm (Disease Ontology:DOID:0060071); Coronavirus infectious disease (Disease Ontology:DOID:0080599); sarcoidosis (Disease Ontology:DOID:11335); adult respiratory distress syndrome (Disease Ontology:DOID:11394); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystic fibrosis (Disease Ontology:DOID:1485); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung non-small cell carcinoma (Disease Ontology:DOID:3908); rhinitis (Disease Ontology:DOID:4483); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:6441); (R-HSA-166016); (R-HSA-168179); (R-HSA-198933); (R-HSA-391160); (R-HSA-5683826); (R-HSA-5686938); (R-HSA-5688849); (R-HSA-5688890); (R-HSA-9692916); (R-HSA-9705671)", "pathway_count": 11, "publication_count": 309, "publication_id_list": "10201950;10368295;10426996;10469599;10485905;10496952;10499918;10572074;10580105;10625644;10746781;11237011;11265639;11274165;11278984;11489943;11509636;11513152;11556966;11563989;11724772;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12019269;12023008;12110890;12185598;12213321;12214235;12471095;12483297;12588680;12692549;12759408;12817025;12882447;12888356;1325798;1339284;1400434;1415726;14531999;14556004;14719373;14970179;15034010;15136729;15155468;15164054;15187158;15208624;15241424;15276183;15294972;15304001;15383453;15489334;15534202;15541655;15580655;15596121;15607800;1568474;15714590;15778510;15781451;15800062;15851719;15864273;15926889;16006481;16014749;16091383;16129954;16199866;16213021;16303959;16339513;1636732;16380601;16423266;16455995;16467847;16551255;16630564;16636058;16737824;16751103;16754682;16754721;16757566;16834340;16855214;16878026;16880211;16893496;16904340;16928187;17035307;17045824;17057721;17070842;17237375;17270291;17337780;17369261;17412287;17417879;17496061;17596301;17761676;17767165;18020944;18031695;18037897;18055229;18092821;18209062;18222170;18233961;18234675;18297073;18354232;18559343;18593354;18657508;18692472;18955570;1898081;18990700;19100526;19112167;19144824;19149696;1928448;1932100;19359216;19380580;19398035;19592130;19628875;19799916;19824815;20037584;20054143;20147294;20338813;20418254;20473308;20730098;21075760;21205713;21241660;21800138;21841309;21871094;21877119;22046132;22078883;22158869;22253733;22312431;22344226;22396535;22489132;22941947;23069847;23446148;23478426;23483519;23590306;23684610;23695528;23922714;23929856;24224757;24305946;24509444;24622840;2462607;24743970;2477488;24833748;24854014;25135833;2515193;25424900;25703557;25716998;25764917;25825441;2587265;25880347;25907116;2610270;26284469;26300885;26320399;26378163;26953329;27164085;27203180;27452731;27742543;28148787;29294448;29557506;29912941;2995821;30185776;3037072;31034780;31231549;31608988;31850239;32353859;32428392;32589897;32726803;32728199;32953130;32979938;33024073;33060197;33097660;33110251;33349665;33360543;33372174;33372854;33396605;33440148;33479219;33495715;33514628;33567255;3366248;33679736;33718825;33723219;33723527;33727702;33784482;33801464;33807682;33849972;33895773;33963333;33989516;33990585;34021074;34054808;34084167;34110168;34166398;34239064;34290717;34341353;34344306;34375313;34400613;34439781;34452305;34471099;34502139;34597346;34631;34638783;35051231;35102342;3537192;35643212;37051252;37239479;37489844;3755136;3801783;38184074;38245585;38375572;39562538;39992139;40295773;7531291;7542404;7597036;7685021;8006040;8178173;8314870;8424457;8428971;8522976;8527267;8636114;8995416;9062191;9285412;9314561;9665271;9700512;9730896;9813380;9989503", "class_list": "glycogene", "function": "Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population. Publication Status: Online-Only, [RefSeq, PubMed]; Contributes to the lung's defense against inhaled microorganisms, organic antigens and toxins. Interacts with compounds such as bacterial lipopolysaccharides, oligosaccharides and fatty acids and modulates leukocyte action in immune response. May participate in the extracellular reorganization or turnover of pulmonary surfactant. Binds strongly maltose residues and to a lesser extent other alpha-glucosyl moieties., [UniProtKB, PubMed]; Early life surfactant protein-D levels in bronchoalveolar lavage fluids of extremely preterm neonates., [RefSeq, PubMed]; HIV infection impairs the host response to Mycobacterium tuberculosis infection by altering surfactant protein D function in the human lung alveolar mucosa., [RefSeq, PubMed]; Multivalent, calcium-independent binding of surfactant protein A and D to sulfated glycosaminoglycans of the alveolar epithelial glycocalyx., [RefSeq, PubMed]; Surfactant protein D prevents mucin overproduction in airway goblet cells via SIRPalpha. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 487, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T0M3;Q6FH08;Q86YK9;Q8TCD8;Q9UCJ2;Q9UCJ3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005764 lysosome;GO:0005789 endoplasmic reticulum membrane;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0032703 negative regulation of interleukin-2 production;GO:0043129 surfactant homeostasis;GO:0045087 innate immune response;GO:0048286 lung alveolus development;GO:0007585 respiratory gaseous exchange by respiratory system", "synthesized_glycan_count": 0, "hit_score": 31.0, "record_id": "P35247-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75817-1", "uniprot_id": [ { "id": "POP7_HUMAN", "url": "https://www.uniprot.org/uniprot/O75817", "type": "external" } ], "mass": 15651.0, "length": 140, "protein_name": "Ribonuclease P protein subunit p20", "gene_name": "POP7", "organism": "Human", "refseq_name": "ribonuclease P protein subunit p20", "refseq_ac": [ { "id": "NP_005828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005828", "type": "external" } ], "gene_names_uniprotkb": "POP7; RPP20", "gene_names_refseq": "0610037N12Rik; POP7; RPP20; RPP2", "protein_names_uniprotkb": "Ribonuclease P protein subunit p20; RNaseP protein p20; Ribonucleases P/MRP protein subunit POP7 homolog; hPOP7", "protein_names_refseq": "POP7 (processing of precursor, S. cerevisiae) homolog; POP7 homolog, ribonuclease P/MRP subunit; RNaseP protein p20; hPOP7; processing of precursor 7, ribonuclease P subunit; processing of precursor 7, ribonuclease P/MRP subunit; ribonuclease P protein subunit p20; ribonucleases P/MRP protein subunit POP7 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:10248); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;14715275;15096576;15109492;15317868;16361254;16710424;16723659;17204286;17224653;18226598;18809514;18984158;20215441;21311021;21450806;21559454;21593607;22944664;24366607;2470644;24715725;24870230;25418920;25576301;25640237;25849199;26154972;26992070;27846572;27920218;28115465;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29557506;29625199;29786170;29930882;30192525;30429286;30454648;30779550;31217245;31530632;31844290;32157095;32161166;32265295;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33717175;33936100;33968037;33981976;34171305;34357683;34561969;34932366;35579257;35580925;36284347;6930639;7759547;7828588;9512417;9630247;9660920", "class_list": "", "function": "Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:30454648, PubMed:9630247). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; RNA binding protein POP7 regulates ILF3 mRNA stability and expression to promote breast cancer 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": 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": "A4D2E0;Q9BV74", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0033204 ribonuclease P RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005655 nucleolar ribonuclease P complex;GO:0030681 multimeric ribonuclease P complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006396 RNA processing;GO:0008033 tRNA processing;GO:0006364 rRNA processing;GO:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O75817-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43704-1", "uniprot_id": [ { "id": "ST1B1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43704", "type": "external" } ], "mass": 34899.0, "length": 296, "protein_name": "Sulfotransferase 1B1", "gene_name": "SULT1B1", "organism": "Human", "refseq_name": "sulfotransferase 1B1", "refseq_ac": [ { "id": "NP_055280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055280", "type": "external" } ], "gene_names_uniprotkb": "SULT1B1; ST1B2; SULT1B2", "gene_names_refseq": "ST1B1; ST1B2; SULT1B1; SULT1B2", "protein_names_uniprotkb": "Sulfotransferase 1B1; 2.8.2.1; ST1B1; Sulfotransferase 1B2; Sulfotransferase family cytosolic 1B member 1; Thyroid hormone sulfotransferase", "protein_names_refseq": "sulfotransferase 1B1; sulfotransferase 1B2; sulfotransferase family, cytosolic, 1B, member 1; thyroid hormone sulfotransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:27284); (R-HSA-156584)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10199779;10224133;10503886;10512730;11077054;11154739;11237011;11457664;11739018;12039030;12145317;12372849;12889478;14622112;14672934;15358107;16804942;18606703;18672380;2268288;23479625;23481380;25892735;27338799;28084139;28832583;29351928;29557506;32983136;33392160;35165440;36284347;6139755;6770210;7678732;7779757;8185618;8697101;9034160;9443824;9463486;9501187;9566739;9852044", "class_list": "", "function": "(L145V) selectively expressed in African descendants exhibits altered kinetic properties, [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. However, the total genomic length of this gene is greater than that of other SULT1 genes. [provided by RefSeq, Jul 2008]., [RefSeq]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3'-diiodothyronine, triidothyronine (T3) and reverse triiodothyronine (rT3) (PubMed:28084139, PubMed:9443824, PubMed:9463486). May play a role in gut microbiota-host metabolic interaction. O-sulfonates 4-ethylphenol (4-EP), a dietary tyrosine-derived metabolite produced by gut bacteria. The product 4-EPS crosses the blood-brain barrier and may negatively regulate oligodendrocyte maturation and myelination, affecting the functional connectivity of different brain regions associated with the limbic system (PubMed:35165440)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The intersubunit interactions of SULT1B1 as it relates to enzyme 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": 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": "O15497;Q96FI1;Q9UK34", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "type": "external" }, { "id": "2.8.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.14", "type": "external" }, { "id": "2.8.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.2", "type": "external" }, { "id": "2.8.2.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.n2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0004062 aryl sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051923 sulfation;GO:0030855 epithelial cell differentiation;GO:0006068 ethanol catabolic process;GO:0006805 xenobiotic metabolic process;GO:0050427 3'-phosphoadenosine 5'-phosphosulfate metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O43704-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43761-1", "uniprot_id": [ { "id": "SNG3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43761", "type": "external" } ], "mass": 24555.0, "length": 229, "protein_name": "Synaptogyrin-3", "gene_name": "SYNGR3", "organism": "Human", "refseq_name": "synaptogyrin-3", "refseq_ac": [ { "id": "NP_004200", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004200", "type": "external" } ], "gene_names_uniprotkb": "SYNGR3", "gene_names_refseq": "SYNGR3", "protein_names_uniprotkb": "Synaptogyrin-3", "protein_names_refseq": "synaptogyrin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9143)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;14755516;19357284;22223895;25502872;29557506;31154438;31848261;35409005;36148399;36624932;9760194", "class_list": "", "function": "In vivo overexpression of synaptogyrin-3 promotes striatal synaptic dopamine uptake in LRRK2[R1441G] mutant mouse model of Parkinson's disease., [RefSeq, PubMed]; May play a role in regulated exocytosis. May indirectly regulate the activity of the plasma membrane dopamine transporter SLC6A3 and thereby regulate dopamine transport back from the synaptic cleft into the presynaptic terminal., [UniProtKB, UniProtKB]; This gene encodes an integral membrane protein. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it is a synaptic vesicle protein that also interacts with the dopamine transporter. The gene product belongs to the synaptogyrin gene family. [provided by RefSeq, Dec 2010]., [RefSeq]; This study demonstrates the interaction of the mouse homolog, synaptogyrin 3, with the dopamine transporter (DAT)., [RefSeq, PubMed]; This study identifies the mouse homolog, synaptogyrin 3, as a synaptic vesicle protein., [RefSeq, PubMed]; Transcriptional Regulation of the Synaptic Vesicle Protein Synaptogyrin-3 (SYNGR3) Gene: The Effects of NURR1 on Its Expression. Publication Status: Online-Only, [RefSeq, PubMed]; Tumor Cell Extrinsic Synaptogyrin 3 Expression as a Diagnostic and Prognostic Biomarker in Head and Neck Cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2R9S0", "ec_number_list": [], "go_molecular_function": "GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0016020 membrane;GO:0031594 neuromuscular junction;GO:0030672 synaptic vesicle membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0045055 regulated exocytosis;GO:0021762 substantia nigra development;GO:0051580 regulation of neurotransmitter uptake;GO:0010807 regulation of synaptic vesicle priming;GO:0032411 positive regulation of transporter activity", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O43761-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A096LP01-1", "uniprot_id": [ { "id": "SIM26_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A096LP01", "type": "external" } ], "mass": 10908.0, "length": 95, "protein_name": "Small integral membrane protein 26", "gene_name": "SMIM26", "organism": "Human", "refseq_name": "small integral membrane protein 26 isoform 1", "refseq_ac": [ { "id": "NP_001335886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335886", "type": "external" } ], "gene_names_uniprotkb": "SMIM26; LINC00493", "gene_names_refseq": "LINC00493; SMIM26", "protein_names_uniprotkb": "Small integral membrane protein 26", "protein_names_refseq": "long intergenic non-protein coding RNA 493; small integral membrane protein 26 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:388789)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;26811146;28228285;30315122;31844290;32265295;32488085;32502341;33386847;33537174;34445188;37009826", "class_list": "", "function": "Identification and analysis of short open reading frames (sORFs) in the initially annotated noncoding RNA LINC00493 from human cells., [RefSeq, PubMed]; Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level. Publication Status: Online-Only, [RefSeq, PubMed]; LINC00493-encoded microprotein SMIM26 exerts anti-metastatic activity in renal cell carcinoma., [RefSeq, PubMed]; May play a role in cell viability., [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": "A0A096LPB2", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "A0A096LP01-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08170-1", "uniprot_id": [ { "id": "SRSF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08170", "type": "external" } ], "mass": 56678.0, "length": 494, "protein_name": "Serine/arginine-rich splicing factor 4", "gene_name": "SRSF4", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 4", "refseq_ac": [ { "id": "NP_005617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005617", "type": "external" } ], "gene_names_uniprotkb": "SRSF4; SFRS4; SRP75", "gene_names_refseq": "SFRS4; SRP75; SRSF4", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 4; Pre-mRNA-splicing factor SRP75; SRP001LB; Splicing factor, arginine/serine-rich 4", "protein_names_refseq": "SR splicing factor 4; SRP001LB; pre-mRNA-splicing factor SRP75; serine/arginine-rich splicing factor 4; splicing factor, arginine/serine-rich 4", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250); colon adenocarcinoma (Disease Ontology:DOID:234); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:6429); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 212, "publication_id_list": "10228171;10323864;10489353;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12871933;14519844;14578391;14625303;14713954;14749727;14762106;15009664;15037765;15084397;15565158;1577277;15998806;16314397;16314458;16809785;17000901;17081983;17095540;17128255;17190602;17287340;17332742;17606899;17984224;18288197;18322460;18364396;18411249;18423201;18452278;18593880;18669648;18767875;18957205;19103666;19165350;19217410;19415658;19536130;19651622;19664994;19836239;20068231;20129943;20423332;20573985;20695905;20844015;20980672;21295486;21406692;21536652;2176635;21911577;21947206;22110043;22207203;22365833;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23345524;23826332;23874216;24029068;24076191;24149845;24196718;24244187;24275569;24304693;24316715;24407421;24448447;24714562;24715725;24737827;24914973;24981863;25301780;25301781;25555158;2558966;25645385;25662211;25836925;26092250;26154972;26385511;26420826;26969736;27108190;27377154;27459055;27683217;27846572;27920218;28062851;28076346;28096519;28228285;28502770;28781166;28911096;29186539;29274231;29301961;29360106;29361316;29393594;29493099;29557506;2963332;29902443;30139799;30257008;30315277;30379171;30429286;30444036;30599162;30705154;30728453;30765414;30975767;31154438;31409651;31844290;31848261;31998317;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32816001;33091337;33177556;33243851;33298915;33446560;33717175;33912179;34019948;34229054;34301950;34822310;35051231;35177536;35215846;35251023;35385551;36284347;37014544;37217939;3757028;37938771;38396760;40596516;8321209;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9531537;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in alternative splice site selection during pre-mRNA splicing. Represses the splicing of MAPT/Tau exon 10., [UniProtKB, PubMed]; SRSF4 Confers Temozolomide Resistance of Glioma via Accelerating Double Strand Break Repair., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "Q5VXP1;Q9BUA4;Q9UEB5", "ec_number_list": [], "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0032868 response to insulin;GO:0048025 negative regulation of mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q08170-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXR3-1", "uniprot_id": [ { "id": "POK6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXR3", "type": "external" } ], "mass": 107688.0, "length": 956, "protein_name": "Endogenous retrovirus group K member 6 Pol protein", "gene_name": "ERVK-6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVK-6; ERVK6", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 6 Pol protein; HERV-K(C7) Pol protein; HERV-K(HML-2.HOM) Pol protein; HERV-K108 Pol protein; HERV-K_7p22.1 provirus ancestral Pol protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 26, "publication_id_list": "10080172;10469592;10516026;10516058;10557333;10683442;10936083;10980608;11000203;11105755;11287007;11401426;11401447;11581404;12083821;12629516;12970426;14557543;15063128;17040911;29557506;35080970;7983704;7983737;9060628;9971820", "class_list": "", "function": "Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties., [UniProtKB, PubMed]; Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]; The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution., [UniProtKB]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 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": "Q6KH04;Q9BXR4;Q9UKH5;Q9UP31;Q9WIK9;Q9WJR4", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005198 structural molecule activity;GO:0003676 nucleic acid binding;GO:0003723 RNA binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0075523 viral translational frameshifting;GO:0006406 mRNA export from nucleus;GO:0010628 positive regulation of gene expression;GO:0051260 protein homooligomerization;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9BXR3-1", "record_type": "protein", "filter_code": "0000000.0100100.010000.000000000001000000.0000100010000.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T8A7-1", "uniprot_id": [ { "id": "PPR26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T8A7", "type": "external" } ], "mass": 127351.0, "length": 1209, "protein_name": "Protein phosphatase 1 regulatory subunit 26", "gene_name": "PPP1R26", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 26", "refseq_ac": [ { "id": "NP_055626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055626", "type": "external" } ], "gene_names_uniprotkb": "PPP1R26; KIAA0649", "gene_names_refseq": "KIAA0649; NRBE3; PPP1R26", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 26", "protein_names_refseq": "1A6/DRIM (down-regulated in metastasis) interacting protein; DRIM/UTP20 interacting protein; protein phosphatase 1 regulatory subunit 26", "tax_id": 9606, "disease": "", "pathway": " (hsa:9858)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "16053918;19389623;19651622;23186163;26442585;26992070;30262434;30379171;32157095;32488085;32502341;32938616;34087483;35051231;35580925", "class_list": "", "function": "Identified NRBE3 as a novel ubiquitin E3 ligase for RB that might play a role as a potential oncoprotein in human cancers, [RefSeq, PubMed]; Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes. May positively regulate cell proliferation., [UniProtKB, PubMed, PubMed]; Results show that up-regulation of NRBE3 is correlated with lymphatic metastasis in human breast cancer (BC) tissues. Ectopic expression of NRBE3 promotes migration and invasion in BC cells. Accordingly, its knockdown inhibits migration and invasion in BC cells and lung metastasis in vivo., [RefSeq, PubMed]; We showed that KIAA0649 mRNA is widely expressed in human multiple tissues and cell lines. We have also demonstrated that KIAA0649 has oncogenic characteristics: it enhances colony formation, allows anchorage-independent growth., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "Q86WU0;Q8WVV0;Q9Y4D3", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5T8A7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHP9-1", "uniprot_id": [ { "id": "SMPX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHP9", "type": "external" } ], "mass": 9559.0, "length": 88, "protein_name": "Small muscular protein", "gene_name": "SMPX", "organism": "Human", "refseq_name": "small muscular protein", "refseq_ac": [ { "id": "NP_055147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055147", "type": "external" } ], "gene_names_uniprotkb": "SMPX; SRMX", "gene_names_refseq": "Chisel; Csl; DFN6; DFNX4; MPD7; SMPX", "protein_names_uniprotkb": "Small muscular protein; Stretch-responsive skeletal muscle protein", "protein_names_refseq": "deafness, X-linked 6, sensorineural; small muscular protein; stretch-responsive skeletal muscle protein", "tax_id": 9606, "disease": "X-linked deafness 4 (Disease Ontology:DOID:0111735); myopathy, distal, 7, adult-onset, X-linked (MONDO:MONDO:0024771)", "pathway": " (hsa:23676)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10598820;11401441;21549336;21549342;21893181;22911656;30379171;31478598;31583691;33974137", "class_list": "", "function": "A donor splice-site variant in SMPX causes rare X-linked congenital deafness., [RefSeq, PubMed]; Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations., [RefSeq, PubMed]; In silico analysis of nonsynonymous single-nucleotide polymorphisms (nsSNPs) of the SMPX gene., [RefSeq, PubMed]; Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions., [RefSeq, PubMed]; Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function., [RefSeq, PubMed]; Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair., [UniProtKB]; This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AWX2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0031430 M band;GO:0043034 costamere;GO:0005927 muscle tendon junction", "go_biological_process": "GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9UHP9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35326-1", "uniprot_id": [ { "id": "SPR2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P35326", "type": "external" } ], "mass": 7965.0, "length": 72, "protein_name": "Small proline-rich protein 2A", "gene_name": "SPRR2A", "organism": "Human", "refseq_name": "small proline-rich protein 2A", "refseq_ac": [ { "id": "NP_005979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005979", "type": "external" } ], "gene_names_uniprotkb": "SPRR2A", "gene_names_refseq": "SPRR2A", "protein_names_uniprotkb": "Small proline-rich protein 2A; 2-1; SPR-2A", "protein_names_refseq": "2-1; SPR-2A; small proline-rich protein 2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:6700); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12067728;12624109;12902340;15033990;15140226;15234001;15337775;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16639001;17330888;17515931;17562024;17596512;18843291;19190773;19194479;19924134;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23283814;23629652;2388825;24123265;24794495;25926655;26340985;26390218;28859701;30108165;30905808;31399284;32908616;34735226;7543090;8325635;8824274;8999895;9395522;9565599", "class_list": "", "function": "Assessment of SPRR2A protein expression in a clinical cohort of patients with head and neck squamous cell carcinoma (HNSCC) confirmed common SPRR2A downregulation in primary tumors and lymph node metastases, but not in normal tissue. High expression of SPRR2A in lymph node metastases was, along with nonoropharyngeal location of the primary tumor, an independent prognostic factor for regional disease recurrence., [RefSeq, PubMed]; Expression of SPRR1 and of SPRR2A is increased in mucosal samples from patients with chronic rhinosinusitis and appeared as a downstream result of TNF alpha modulation, which possibly resulted in epithelial barrier dysfunction., [RefSeq, PubMed]; Gut bactericidal protein that selectively kills Gram-positive bacteria by binding to negatively charged lipids on bacterial membranes, leading to bacterial membrane permeabilization and disruption (PubMed:34735226). Specifically binds lipids bearing negatively charged headgroups, such as phosphatidic acid, phosphatidylserine (PS), cardiolipin (CL), and phosphatidylinositol phosphates, but not to zwitterionic or neutral lipids (PubMed:34735226). Induced by type-2 cytokines in response to helminth infection and is required to protect against helminth-induced bacterial invasion of intestinal tissue (By similarity). May also be involved in the development of the cornified envelope of squamous epithelia; however, additional evidences are required to confirm this result in vivo (PubMed:8325635)., [UniProtKB, PubMed, UniProtKB, PubMed]; SPRR2a modulates ZEB-1 signaling by way of miR-200c/141-associated epithelial mesenchyme transition through SH3-domain networks and contributes to benign and malignant wound-healing responses., [RefSeq, PubMed]; Serum Small Proline-Rich Protein 2A (SPRR2A) Is a Noninvasive Biomarker in Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R4T3;D3DV35;Q5T529", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030141 secretory granule;GO:0030133 transport vesicle", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0050830 defense response to Gram-positive bacterium;GO:0048874 host-mediated modulation of intestinal microbiota composition", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P35326-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUL9-1", "uniprot_id": [ { "id": "RPP25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUL9", "type": "external" } ], "mass": 20632.0, "length": 199, "protein_name": "Ribonuclease P protein subunit p25", "gene_name": "RPP25", "organism": "Human", "refseq_name": "ribonuclease P protein subunit p25", "refseq_ac": [ { "id": "NP_060263", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060263", "type": "external" } ], "gene_names_uniprotkb": "RPP25", "gene_names_refseq": "RPP25", "protein_names_uniprotkb": "Ribonuclease P protein subunit p25; RNase P protein subunit p25", "protein_names_refseq": "RNase P protein subunit p25; ribonuclease P 25kDa subunit; ribonuclease P and MRP subunit p25; ribonuclease P protein subunit p25; ribonuclease P/MRP 25kDa subunit", "tax_id": 9606, "disease": "autistic disorder (Disease Ontology:DOID:12849)", "pathway": " (hsa:54913); (R-HSA-6784531); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10444065;11455963;11727826;11871657;11922599;12003489;12068309;12138183;12150911;12526808;12711671;12729736;15096576;15109492;15317868;16037817;16043514;16361254;16710424;16723659;16738141;17189298;17204286;17224653;17287340;17353269;17412707;18065403;18226598;18438418;18669648;18809514;18984158;19106111;19332556;19564402;19801658;20038530;20056613;20068231;20215441;20531386;20632321;20798176;20805244;20819938;21036871;21063389;21097556;21311021;21450806;21559454;21593607;22072790;22190735;22195017;22916032;22944664;23439679;23482395;2388630;24424021;24550520;2470644;24870230;25525153;25640237;25849199;25969445;26237581;26992070;28115465;29625199;30192525;30454648;30833945;31844290;31942724;32161166;33571640;34171305;36240223;40596516;6930639;7759547;7828588;9482744;9512417;9660920", "class_list": "", "function": "Analyses of interactions with deletion mutant proteins indicate that the Alba-type core domain of both Rpp20 and Rpp25 contains most of the determinants for mutual association and P3 RNA recognition., [RefSeq, PubMed]; Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:12003489, PubMed:16723659, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Crystal structure of human RPP20-RPP25 proteins in complex with the P3 domain of lncRNA RMRP., [RefSeq, PubMed]; LINC00319 promotes migration, invasion and epithelial-mesenchymal transition process in cervical cancer by regulating miR-3127-5p/RPP25 axis., [RefSeq, PubMed]; Taken together, these findings suggest a potential role for the RPP25 gene transcript in the neurobiology of developmental brain disorders., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DW70;Q9NX88", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0033204 ribonuclease P RNA binding", "go_cellular_component": "GO:0030681 multimeric ribonuclease P complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000172 ribonuclease MRP complex", "go_biological_process": "GO:0006396 RNA processing;GO:0006364 rRNA processing;GO:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9BUL9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14C87-1", "uniprot_id": [ { "id": "T132D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14C87", "type": "external" } ], "mass": 122309.0, "length": 1099, "protein_name": "Transmembrane protein 132D", "gene_name": "TMEM132D", "organism": "Human", "refseq_name": "transmembrane protein 132D precursor", "refseq_ac": [ { "id": "NP_597705", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_597705", "type": "external" } ], "gene_names_uniprotkb": "TMEM132D; HBE120; KIAA1944; MOLT", "gene_names_refseq": "MOLT; PPP1R153; TMEM132D", "protein_names_uniprotkb": "Transmembrane protein 132D; Mature OL transmembrane protein; Mature oligodendrocytes transmembrane protein", "protein_names_refseq": "mature OL transmembrane protein; mature oligodendrocytes transmembrane protein; protein phosphatase 1, regulatory subunit 153; transmembrane protein 132D precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:121256)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "12966072;20368705;21784300;22911938;23481700;28228285;28904123;29557506;30779550;33141586;33726789;35051231;35494241;37695605", "class_list": "", "function": "Data suggest that not only common but also putatively functional and/or rare variants within TMEM132D might contribute to the risk to develop anxiety disorders, [RefSeq, PubMed]; Regulate neuronals morphology via inhibition of the WAVE regulatory complex (WCR), a complex that controls F-actin cytoskeletal dynamics., [UniProtKB, PubMed]; TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis., [RefSeq, PubMed]; TMEM132D may be an important new candidate gene for PD as well as more generally for anxiety-related behavior., [RefSeq, PubMed]; We found no genome-wide statistically significant associations but identified several plausible candidate genes among findings at p < 5E-05: TMEM132D, LRRC7, SEMA3A, ALK, and STIP1., [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": 97, "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": "Q14C96;Q76M59;Q8N1W9;Q8N3Q5;Q8TF57", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q14C87-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4KMQ1-1", "uniprot_id": [ { "id": "TPRN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4KMQ1", "type": "external" } ], "mass": 75556.0, "length": 711, "protein_name": "Taperin", "gene_name": "TPRN", "organism": "Human", "refseq_name": "taperin", "refseq_ac": [ { "id": "NP_001121700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121700", "type": "external" } ], "gene_names_uniprotkb": "TPRN; C9orf75", "gene_names_refseq": "C9orf75; DFNB79; TPRN", "protein_names_uniprotkb": "Taperin", "protein_names_refseq": "taperin", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 79 (Disease Ontology:DOID:0110526)", "pathway": " (hsa:286262); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10025409;10821263;11163272;11237011;17081983;20068231;20170898;20170899;23186163;23213405;23481700;24285636;24366607;26154972;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28657654;28832583;28904123;29242379;29393594;29557506;29632046;30315122;30429286;30833945;31092671;31154438;31217245;31530632;31844290;32157095;32161166;32265295;32387766;32488085;32502341;32938616;32983136;33298915;33717175;33912179;33936100;33968037;33981976;34561969;34932366;35051231;35132862;35254053;35561310;35580925;36010968;36241641;37952086;39531497;40596516", "class_list": "", "function": "Critical role of TPRN rings in the stereocilia for hearing. Erratum:[Mol Ther. 2025 Jan 8;33(1):419-420. doi: 10.1016/j.ymthe.2024.12.004. PMID: 39672160], [RefSeq, PubMed]; Essential for hearing (By similarity). Required for maintenance of stereocilia on both inner and outer hair cells (By similarity). Necessary for the integrity of the stereociliary rootlet (By similarity). May act as an actin cytoskeleton regulator involved in the regulation of actin dynamics at the pointed end in hair cells (By similarity). Forms rings at the base of stereocilia and binds actin filaments in the stereocilia which may stabilize the stereocilia (By similarity). Acts as a strong inhibitor of PPP1CA phosphatase activity (PubMed:23213405). Recruited to sites of DNA damage and may play a role in DNA damage repair (PubMed:23213405)., [UniProtKB, UniProtKB, PubMed]; Genome-wide homozygosity mapping in a Moroccan family; mapped autosomal-recessive nonsyndromic hearing loss to DFNB79 locus on chromosome 9q34; identified a causative homozygous 11 bp deletion, c.42_52del, in TPRN gene in affected individuals, [RefSeq, PubMed]; Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79, [RefSeq, PubMed]; This locus encodes a sensory epithelial protein. It was defined by linkage analysis in three Pakistani families to lie between D9S1818 (centromeric) and D9SH6 (telomeric). Mutations at this locus have been associated with autosomal recessive deafness. [provided by RefSeq, Oct 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "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": "B7ZKU5;Q5VSG5;Q5VSG6;Q6IPP2;Q8NCH2", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity;GO:0003779 actin binding;GO:0008157 protein phosphatase 1 binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005902 microvillus;GO:0032420 stereocilium;GO:0120044 stereocilium base", "go_biological_process": "GO:0007605 sensory perception of sound;GO:0060088 auditory receptor cell stereocilium organization;GO:0120045 stereocilium maintenance", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q4KMQ1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46939-1", "uniprot_id": [ { "id": "UTRN_HUMAN", "url": "https://www.uniprot.org/uniprot/P46939", "type": "external" } ], "mass": 394466.0, "length": 3433, "protein_name": "Utrophin", "gene_name": "UTRN", "organism": "Human", "refseq_name": "utrophin isoform 1", "refseq_ac": [ { "id": "NP_009055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009055", "type": "external" } ], "gene_names_uniprotkb": "UTRN; DMDL; DRP1", "gene_names_refseq": "DMDL; DRP1; DRP; UTRN", "protein_names_uniprotkb": "Utrophin; DRP-1; Dystrophin-related protein 1", "protein_names_refseq": "dystrophin-related protein 1; utrophin isoform 1", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723); ovarian cancer (Disease Ontology:DOID:2394); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:7402); (R-HSA-9619665); (R-HSA-9913351)", "pathway_count": 3, "publication_count": 256, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10203854;10220111;10369873;10400691;10441321;10545507;10570192;10647184;10715214;10727776;10757804;10767429;10769203;10856243;10893187;10932245;10942431;11115854;11133365;11157804;11237011;11352924;11356866;11394999;11430795;11430802;11495720;11734543;11782409;12056842;12145339;12189167;12198163;12782656;12799134;1319059;14512514;14522948;1461283;14664827;15150276;15175026;15189448;15356632;15610069;15695336;15836632;15907797;16136673;16311519;16319321;16373334;16524571;16777071;16923174;1704008;17081983;17325040;17699610;17905726;17959798;18220336;18634568;18669648;18764929;18803322;19143832;19156870;19321787;19346169;19745155;1975954;19922439;19945424;19946898;20044576;20068231;20149798;20213556;20625412;20832498;21044070;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22159078;22180461;22223806;22333914;22424782;22492709;22764250;22814607;23481700;23695165;23747866;23783831;23874858;24191038;24227709;24275569;24397554;24628267;24646194;24675079;24714562;24715725;25418920;25505266;25576301;25645385;25974668;26154972;26375851;26423937;26441514;26728094;26768311;26811146;26853435;26992070;27220739;27288457;27397612;27543614;27600516;27846572;27859941;27862975;27920218;28218747;28228285;28411811;28649982;28832583;28834231;28852375;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29748249;29786170;29789417;30192525;30315122;30379171;30410026;30429286;30444036;30484775;30524438;31154438;31492838;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;3282674;32897882;32938616;32938750;32983136;33091337;33123756;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35154160;35254053;35289036;35318648;35513511;35580925;36010968;36215666;36241641;36284347;36882837;37149986;37563583;37897547;37938771;37975230;38253038;38665916;39531497;39534244;40307207;7527495;7547961;7592992;7844150;7925941;7935840;8043271;8138712;8268918;8349731;8576247;8607994;8619637;8627307;8647822;8662541;8798547;8842374;8845841;9214383;9405466;9412493;9418958;9482253;9652404;9705348;9748295;9858769;9864373;9887274", "class_list": "", "function": "Exercise activates Sirt1-mediated Drp1 acetylation and inhibits hepatocyte apoptosis to improve nonalcoholic fatty liver disease. Publication Status: Online-Only, [RefSeq, PubMed]; Exercise-induced circular RNA circUtrn is required for cardiac physiological hypertrophy and prevents myocardial ischaemia-reperfusion injury., [RefSeq, PubMed]; Ischemia/reperfusion-induced MiD51 upregulation recruits Drp1 to mitochondria and contributes to myocardial injury., [RefSeq, PubMed]; May play a role in anchoring the cytoskeleton to the plasma membrane., [UniProtKB]; Mitochondrial dynamics-related genes DRP1 and OPA1 contributes to early diagnosis of cognitive impairment in diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of Drp1 and enhancement of mitochondrial fission by the deubiquitinating enzyme PSMD14 facilitates the proliferation of bladder cancer cells., [RefSeq, PubMed]; This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet 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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q5SYY1;Q5SZ57;Q9UJ40", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005178 integrin binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0017166 vinculin binding", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0006936 muscle contraction;GO:0007517 muscle organ development;GO:1902305 regulation of sodium ion transmembrane transport;GO:0001954 positive regulation of cell-matrix adhesion;GO:0099536 synaptic signaling", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "P46939-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04118-1", "uniprot_id": [ { "id": "PRB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04118", "type": "external" } ], "mass": 35123.0, "length": 351, "protein_name": "Basic salivary proline-rich protein 3", "gene_name": "PRB3", "organism": "Human", "refseq_name": "basic salivary proline-rich protein 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001381791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001381791", "type": "external" } ], "gene_names_uniprotkb": "PRB3", "gene_names_refseq": "G1; PRB3; PRG", "protein_names_uniprotkb": "Basic salivary proline-rich protein 3; Parotid salivary glycoprotein G1; Proline-rich protein G1", "protein_names_refseq": "BstNI type basic salivary proline-rich protein 3; G1 parotid salivary glycoprotein; basic salivary proline-rich protein 3 isoform 2 precursor; parotid salivary glycoprotein G1; proline-rich protein G1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5544)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "18463091;1894623;20879038;2171329;24135847;26991339;2851479;31154438;33043033", "class_list": "", "function": "Acts as a receptor for the Gram-negative bacterium F.nucleatum., [UniProtKB, PubMed]; The results of this study suggested that low levels of PRB3 mRNA may have a role in dopamine-agonist resistance and tumor recurrence of prolactinomas., [RefSeq, PubMed]; This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the 'Long' allele. The protein isoforms encoded by this gene are recognized as the 'first line of oral defense' against the detrimental effects of polyphenols in the diet and pathogen infections. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "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": 2, "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": 2, "total_reported_o_glycosites": 1, "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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "F5H7C1;Q15188;Q4VAY3;Q4VAY4;Q7M4M9;Q9UCT9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050829 defense response to Gram-negative bacterium", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q04118-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100010010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13487-1", "uniprot_id": [ { "id": "SNPC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13487", "type": "external" } ], "mass": 35556.0, "length": 334, "protein_name": "snRNA-activating protein complex subunit 2", "gene_name": "SNAPC2", "organism": "Human", "refseq_name": "snRNA-activating protein complex subunit 2", "refseq_ac": [ { "id": "NP_003074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003074", "type": "external" } ], "gene_names_uniprotkb": "SNAPC2; SNAP45", "gene_names_refseq": "PTFDELTA; SNAP45; SNAPC2", "protein_names_uniprotkb": "snRNA-activating protein complex subunit 2; PSE-binding factor subunit delta; PTF subunit delta; Proximal sequence element-binding transcription factor subunit delta; SNAPc 45 kDa subunit; SNAPc subunit 2; Small nuclear RNA-activating complex polypeptide 2; snRNA-activating protein complex 45 kDa subunit", "protein_names_refseq": "PSE-binding factor subunit delta; PTF subunit delta; SNAPC 45 kDa subunit; SNAPc subunit 2; proximal sequence element-binding transcription factor subunit delta; small nuclear RNA activating complex, polypeptide 2, 45kDa; small nuclear RNA activating complex, polypeptide 2, 45kD; snRNA-activating protein complex 45 kDa subunit; snRNA-activating protein complex subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6618); (R-HSA-6807505); (R-HSA-749476); (R-HSA-76071)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10022900;10421633;11056176;11237011;11463379;11856838;12414730;12574128;12621023;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;18356157;19667075;20457598;2125285;21444690;22137580;22231121;22252320;22441827;23166507;23932780;24097444;24270878;24997600;25576301;25675981;28228285;28514659;28832583;28904123;29242379;29393594;2944599;29557506;29786170;30484775;30833945;31092671;31530632;31844290;32387766;32488085;32502341;32938616;32983136;33141586;33592498;33691108;33968037;33981976;34171305;35051231;35580925;36241641;37938771;7715707;7891697;8253082;8339931;8524284;8628262;8633057;8668525;9003788;9009278;9153304;9188510;9234698;9407024;9418884;9705341;9832505", "class_list": "", "function": "Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box., [UniProtKB]; SNAP45 plays two roles in the cell, one as a subunit of the transcription factor SNAP(c) and another as a factor required for proper mitotic progression, [RefSeq, PubMed]; The findings invoke a model wherein incomplete DNA synthesis during S phase leads to a DNA damage response and formation of 53BP1-OPT domains in the subsequent G1., [RefSeq, PubMed]; This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RBZ6;D6W663;Q13486", "ec_number_list": [], "go_molecular_function": "GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0009301 snRNA transcription;GO:0006366 transcription by RNA polymerase II;GO:0006383 transcription by RNA polymerase III;GO:0042795 snRNA transcription by RNA polymerase II;GO:0042796 snRNA transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q13487-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DKX4-1", "uniprot_id": [ { "id": "SIM18_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DKX4", "type": "external" } ], "mass": 11088.0, "length": 95, "protein_name": "Small integral membrane protein 18", "gene_name": "SMIM18", "organism": "Human", "refseq_name": "small integral membrane protein 18", "refseq_ac": [ { "id": "NP_001193776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193776", "type": "external" } ], "gene_names_uniprotkb": "SMIM18", "gene_names_refseq": "SMIM18", "protein_names_uniprotkb": "Small integral membrane protein 18", "protein_names_refseq": "small integral membrane protein 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507341)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "15885500", "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": 0.2, "record_id": "P0DKX4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR45-1", "uniprot_id": [ { "id": "SIAS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR45", "type": "external" } ], "mass": 40308.0, "length": 359, "protein_name": "N-acetylneuraminate-9-phosphate synthase", "gene_name": "NANS", "organism": "Human", "refseq_name": "N-acetylneuraminate-9-phosphate synthase", "refseq_ac": [ { "id": "NP_061819", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061819", "type": "external" } ], "gene_names_uniprotkb": "NANS; SAS", "gene_names_refseq": "HEL-S-100; NANS; SAS; SEMDCG; SEMDG", "protein_names_uniprotkb": "N-acetylneuraminate-9-phosphate synthase; 2.5.1.132; 2.5.1.57; 3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase; N-acetylneuraminic acid phosphate synthase; NANS; Sialic acid phosphate synthase; Sialic acid synthase", "protein_names_refseq": "3-deoxy-D-glycero-D-galacto-nononate 9-phosphate synthase; N-acetylneuraminate-9-phosphate synthase; N-acetylneuraminic acid phosphate synthase; N-acetylneuraminic acid synthase; epididymis secretory protein Li 100; sialic acid phosphate synthase; sialic acid synthase", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia, Genevieve-type (Disease Ontology:DOID:0080576)", "pathway": " (hsa:54187); (R-HSA-4085001)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11237011;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14962670;15136692;15213228;15501818;15576474;15726110;16147865;16237198;16274664;16597820;17123352;1756715;18632803;19608861;19797320;20068231;20800603;21081508;22692205;25418920;27213289;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29557506;29632046;29769354;30410026;30429286;30484775;30833945;31154438;31217245;3136930;31530632;31844290;31848261;31998317;32157095;32357974;32488085;32938616;33214551;33592498;33912179;33936100;33968037;34019948;34185709;34229054;34357683;35051231;35580925;36010968;36241641;36284347;37938771;38000033;38665916;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene", "function": "Catalyzes the condensation of phosphoenolpyruvate (PEP) and N-acetylmannosamine 6-phosphate (ManNAc-6-P) to synthesize N-acetylneuraminate-9-phosphate (Neu5Ac-9-P) (PubMed:10749855). Also catalyzes the condensation of PEP and D-mannose 6-phosphate (Man-6-P) to produce 3-deoxy-D-glycero-beta-D-galacto-non-2-ulopyranosonate 9-phosphate (KDN-9-P) (PubMed:10749855). Neu5Ac-9-P and KDN-9-P are the phosphorylated forms of sialic acids N-acetylneuraminic acid (Neu5Ac) and deaminoneuraminic acid (KDN), respectively (PubMed:10749855). Required for brain and skeletal development (PubMed:27213289)., [UniProtKB, PubMed, PubMed]; NANS deficiency is associated with defect in brain and skeletal development. Erratum:[Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. PMID: 28546570], [RefSeq, PubMed]; Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Sialic acid synthases kinetics and preliminary mutagenesis experiments reveal the importance of C-terminal antifreeze protein domain, [RefSeq, PubMed]; The structure of the C-terminal antifreeze-like domain of human sialic acid synthase was determined. The structure comprises one alpha- and two single-turn 3(10)-helices and two beta-strands, and is similar to those of the type III antifreeze proteins., [RefSeq, PubMed]; This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [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": 431, "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": "B2RE98;Q8WUV9;Q9BWS6;Q9NVD4", "ec_number_list": [ { "id": "2.5.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.57", "type": "external" }, { "id": "2.5.1.132", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.132", "type": "external" } ], "go_molecular_function": "GO:0047444 N-acylneuraminate-9-phosphate synthase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0006055 CMP-N-acetylneuraminate biosynthetic process;GO:0046380 N-acetylneuraminate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9NR45-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PL1-1", "uniprot_id": [ { "id": "SG3A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PL1", "type": "external" } ], "mass": 10161.0, "length": 93, "protein_name": "Secretoglobin family 3A member 2", "gene_name": "SCGB3A2", "organism": "Human", "refseq_name": "secretoglobin family 3A member 2 precursor", "refseq_ac": [ { "id": "NP_473364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_473364", "type": "external" } ], "gene_names_uniprotkb": "SCGB3A2; PNSP1; PRO1128; UGRP1", "gene_names_refseq": "LU103; PNSP1; SCGB3A2; UGRP1; pnSP-1", "protein_names_uniprotkb": "Secretoglobin family 3A member 2; PnSP-1; Pneumo secretory protein 1; Uteroglobin-related protein 1", "protein_names_refseq": "pneumo secretory protein 1; secretoglobin family 3A member 2 precursor; uteroglobin-related protein 1", "tax_id": 9606, "disease": "sinusitis (Disease Ontology:DOID:0050127); asthma (Disease Ontology:DOID:2841); lung non-small cell carcinoma (Disease Ontology:DOID:3908); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:117156); (R-HSA-3000480)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10224290;10651831;10686426;10722588;11237011;11564734;11682631;11813133;11820786;12175512;12406855;12488451;12761161;12763022;12847263;12975309;1339697;14609958;16237101;16525990;16882874;16926412;16959974;16984918;17179669;17332894;17709607;1852209;19073604;19227971;19911804;20360967;20810988;20849212;20888598;20956340;21782039;2251254;22570530;2318890;23197261;23934357;24213919;28422086;29557506;31154438;31255731;3467373;35016921;6088540;6255257;7607209;8127896;8429030;8751442;8784195;9225214;9465098;9468508;9511720;9548586", "class_list": "", "function": "Emerging role of an immunomodulatory protein secretoglobin 3A2 in human diseases. Review article, [RefSeq, PubMed]; Polymorphism in the human UGRP1 gene promoter that regulates transcription is associated with an increased risk of asthma, [RefSeq, PubMed]; Rs151333009 SNP showed a monomorphic genotype. Two promoter SNPs (rs6882292, -659 G/A and rs1368408, -112 G/A) showed significant association with asthma. These results suggest that the promoter SNPs (rs6882292 and rs1368408) of SCGB3A2 gene may contribute to susceptibility to asthma in a Korean population. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted cytokine-like protein (PubMed:12847263). Binds to the scavenger receptor MARCO (PubMed:12847263). Can also bind to pathogens including the Gram-positive bacterium L.monocytogenes, the Gram-negative bacterium P.aeruginosa, and yeast (PubMed:12847263). Strongly inhibits phospholipase A2 (PLA2G1B) activity (PubMed:24213919). Seems to have anti-inflammatory effects in respiratory epithelium (By similarity). Also has anti-fibrotic activity in lung (PubMed:24213919). May play a role in fetal lung development and maturation (PubMed:24213919). Promotes branching morphogenesis during early stages of lung development (PubMed:24213919). In the pituitary, may inhibit production of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a secreted lung surfactant protein and a downstream target of thyroid transcription factor. A single nucleotide polymorphism in the promoter of this gene results in susceptibility to asthma.[provided by RefSeq, Mar 2010]., [RefSeq]; This meta-analysis suggests that SCGB3A2 polymorphism at positions -112G>A was associated with Graves' disease both in Chinese and Caucasian population., [RefSeq, PubMed]; UGRP1 may be a novel marker in thyrocytes to predict Grave's disease patients who develop hypothyroidism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0071682 endocytic vesicle lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q96PL1-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXF0-1", "uniprot_id": [ { "id": "SRS12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXF0", "type": "external" } ], "mass": 30512.0, "length": 261, "protein_name": "Serine/arginine-rich splicing factor 12", "gene_name": "SRSF12", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 12 isoform a", "refseq_ac": [ { "id": "NP_542781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542781", "type": "external" } ], "gene_names_uniprotkb": "SRSF12; SFRS13B; SFRS19; SRRP35", "gene_names_refseq": "SFRS13B; SFRS19; SRSF12; SRrp35", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 12; 35 kDa SR repressor protein; SRrp35; Splicing factor, arginine/serine-rich 13B; Splicing factor, arginine/serine-rich 19", "protein_names_refseq": "35 kDa SR repressor protein; SR splicing factor 12; serine-arginine repressor protein (35 kDa); serine/arginine-rich splicing factor 12 isoform a; serine/arginine-rich splicing factor 12; splicing factor, arginine/serine-rich 13B; splicing factor, arginine/serine-rich 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:135295); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562)", "pathway_count": 4, "publication_count": 117, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11237011;11684676;11991638;12176931;12411573;12414731;12477934;14625303;14713954;14749727;15037765;15565158;16314458;16809785;17095540;17128255;17287340;17332742;17606899;18288197;18322460;18593880;19103666;19165350;19217410;19536130;20423332;20695905;20980672;21295486;21536652;2176635;22110043;22365833;22813749;22959432;22961380;23222130;23236153;23301498;23345524;23874216;24076191;24149845;24196718;24304693;24316715;24407421;24448447;24737827;24914973;24981863;25301780;25301781;25555158;2558966;26385511;26420826;26969736;26992070;27377154;27459055;27683217;28062851;28076346;28096519;28502770;28781166;28911096;29186539;29274231;29301961;29360106;29361316;2963332;30139799;30257008;30315277;30705154;30728453;30765414;30975767;31154438;31409651;31492838;32179686;32329775;32494006;32502341;32816001;33141586;33243851;33446560;34301950;34822310;35177536;35385551;3757028;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Splicing factor that seems to antagonize SR proteins in pre-mRNA splicing regulation., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RA22;Q5T7K0;Q8WW25", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0051082 unfolded protein binding;GO:0050733 RS domain binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0000381 regulation of alternative mRNA splicing, via spliceosome;GO:0000395 mRNA 5'-splice site recognition", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q8WXF0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBF4-1", "uniprot_id": [ { "id": "ZFYV1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBF4", "type": "external" } ], "mass": 87176.0, "length": 777, "protein_name": "Zinc finger FYVE domain-containing protein 1", "gene_name": "ZFYVE1", "organism": "Human", "refseq_name": "zinc finger FYVE domain-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001268663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268663", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE1; DFCP1; KIAA1589; PP10436; TAFF1; ZNFN2A1", "gene_names_refseq": "DFCP1; PPP1R172; SR3; TAFF1; ZFYVE1; ZNFN2A1", "protein_names_uniprotkb": "Zinc finger FYVE domain-containing protein 1; Double FYVE-containing protein 1; SR3; Tandem FYVE fingers-1", "protein_names_refseq": "double FYVE-containing protein 1; phosphoinositide-binding protein SR3; protein phosphatase 1, regulatory subunit 172; tandem FYVE fingers-1 protein; zinc finger FYVE domain-containing protein 1 isoform 3; zinc finger FYVE domain-containing protein 1; zinc finger protein, subfamily 2A, member 1; zinc finger, FYVE domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:53349)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11024279;11237011;11256955;11739631;15498874;22178386;25505266;25876663;25892735;26992070;28832583;30429286;30970241;31092671;31293035;31530632;31844290;32157095;32350084;32387766;32938616;32938750;32983136;33499712;33592498;33912179;33968037;34171305;34932366;35051231;35154160;35254053;35551511;35580925;36010968;36241641", "class_list": "", "function": "(Microbial infection) Upon SARS coronavirus-2/SARS-CoV-2 infection, mediates through binding with non-structural protein 6 (nsp6) the replication organelle-lipid droplet association required to sustain viral replication., [UniProtKB, PubMed]; Plays a role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:30970241). Regulates the morphology, size and distribution of LDs (PubMed:30970241, PubMed:31293035). Mediates the formation of endoplasmic reticulum-lipid droplets (ER-LD) contacts by forming a complex with RAB18 and ZW10 (PubMed:30970241). Binds to phosphatidylinositol 3-phosphate (PtdIns3P) through FYVE-type zinc finger (PubMed:11256955, PubMed:11739631)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Study reveals that fusion of DFCP1-labeled nascent structures contributes to initial LD growth and that the DFCP1-Rab18 complex is involved in tethering the ER-LD contact for LD expansion., [RefSeq, PubMed]; The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. 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": 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": 11, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "J3KNL9;Q8WYX7;Q96K57;Q9BXP9;Q9HCI3", "ec_number_list": [], "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0008270 zinc ion binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0005545 1-phosphatidylinositol binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005811 lipid droplet;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0044829 host-mediated activation of viral genome replication;GO:0016236 macroautophagy;GO:0009267 cellular response to starvation;GO:0140042 lipid droplet formation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9HBF4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WC6-1", "uniprot_id": [ { "id": "PPR27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WC6", "type": "external" } ], "mass": 17438.0, "length": 154, "protein_name": "Protein phosphatase 1 regulatory subunit 27", "gene_name": "PPP1R27", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 27", "refseq_ac": [ { "id": "NP_001007534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007534", "type": "external" } ], "gene_names_uniprotkb": "PPP1R27; DYSFIP1", "gene_names_refseq": "DYSFIP1; PPP1R27", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 27; Dysferlin-interacting protein 1; Toonin", "protein_names_refseq": "dysferlin interacting protein 1; dysferlin-interacting protein 1 (toonin); protein phosphatase 1 regulatory subunit 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:116729)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;19389623;23481700;26992070;32387766;32897882;33091337;33141586;33392160", "class_list": "", "function": "Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity;GO:0019902 phosphatase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q86WC6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13103-1", "uniprot_id": [ { "id": "SPP24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13103", "type": "external" } ], "mass": 24338.0, "length": 211, "protein_name": "Secreted phosphoprotein 24", "gene_name": "SPP2", "organism": "Human", "refseq_name": "secreted phosphoprotein 24 isoform 1 precursor", "refseq_ac": [ { "id": "NP_008875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008875", "type": "external" } ], "gene_names_uniprotkb": "SPP2; SPP24", "gene_names_refseq": "SPP-24; SPP24; SPP2", "protein_names_uniprotkb": "Secreted phosphoprotein 24; Secreted phosphoprotein 2; Spp-24", "protein_names_refseq": "secreted phosphoprotein 2, 24kDa; secreted phosphoprotein 2, 24kD; secreted phosphoprotein 24 isoform 1 precursor; secreted phosphoprotein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:6694); (R-HSA-114608); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;1435334;14630798;15062857;15126567;15297306;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;19375587;19824718;20166139;23640497;24275569;2476804;2479552;26091039;27793899;28855257;31849319;33481052;34087483;36883270;38448371;6457647;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8467233;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Could coordinate an aspect of bone turnover., [UniProtKB, UniProtKB, UniProtKB]; Results describe the localization of the human secreted phosphoprotein 24 gene, its structure and the start of transcription in liver., [RefSeq, PubMed]; SPP2 expression was decreased in colorectal cancer, leukemia, liver cancer and pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; SPP2 plays a role in the tumorigenesis of hepatocellular carcinoma: A bioinformatic based analysis., [RefSeq, PubMed]; Secreted Phosphoprotein 24 is a Biomarker of Mineral Metabolism., [RefSeq, PubMed]; Secreted phosphoprotein 24 kD (Spp24) inhibits the growth of human osteosarcoma through the BMP-2/Smad signaling pathway., [RefSeq, PubMed]; Spp24 can inhibit the growth of prostate cancer and its bone metastasis induced by BMP2; spp24 may have great potential to be a therapeutic agent in clinical situations, [RefSeq, PubMed]; Spp24 contains at least 2 single nucleotide polymorphisms. Given its mechanism of action and sequence variability, SPP24 may be an interesting candidate for future studies of the genetic regulation of bone mass. Review article, [RefSeq, PubMed]; This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A4QMV3;Q3B892;Q546M5", "ec_number_list": [], "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0031089 platelet dense granule lumen;GO:0032991 protein-containing complex", "go_biological_process": "GO:0001501 skeletal system development;GO:0046849 bone remodeling;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q13103-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43290-1", "uniprot_id": [ { "id": "SNUT1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43290", "type": "external" } ], "mass": 90255.0, "length": 800, "protein_name": "U4/U6.U5 tri-snRNP-associated protein 1", "gene_name": "SART1", "organism": "Human", "refseq_name": "U4/U6.U5 tri-snRNP-associated protein 1", "refseq_ac": [ { "id": "NP_005137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005137", "type": "external" } ], "gene_names_uniprotkb": "SART1", "gene_names_refseq": "Ara1; HAF; HOMS1; SART1259; SART1; SNRNP110; Snu66", "protein_names_uniprotkb": "U4/U6.U5 tri-snRNP-associated protein 1; SART-1; SNU66 homolog; Squamous cell carcinoma antigen recognized by T-cells 1; U4/U6.U5 tri-snRNP-associated 110 kDa protein; hSART-1; hSnu66", "protein_names_refseq": "IgE autoantigen; SART-1; SART1(259) protein; SART1(800) protein; SART1, U4/U6.U5 tri-snRNP-associated protein 1; SNU66 homolog; U4/U6.U5 tri-snRNP-associated 110 kDa protein; U4/U6.U5 tri-snRNP-associated protein 1; hSART-1; hSnu66; hypoxia associated factor; small nuclear ribonucleoprotein 110kDa (U4/U6.U5); squamous cell carcinoma antigen recognised by T cells; squamous cell carcinoma antigen recognized by T-cells 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9092); (R-HSA-72163)", "pathway_count": 2, "publication_count": 206, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11350945;11410364;11991638;12176931;12411573;12414731;12477934;12886526;14625303;14713954;15302935;15378520;16314458;16723661;16809785;17081983;17095540;17332742;17440952;17525332;17606899;18212344;18220336;18322460;18452278;18491316;18593880;18669648;18707149;19103666;19165350;19413330;19536130;19651622;19664995;19690332;20068231;20112406;20166139;20423332;20980672;21406692;21536652;2176635;22110043;22365833;22424782;22544926;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23783831;24196718;24275569;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25092792;25114211;25218447;25555158;25576301;2558966;25645385;25755297;25772364;25810538;25880248;26154972;26375851;26385511;26420826;26728094;26969736;26992070;27377154;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28218747;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;29790264;30315122;30315277;30410026;30429286;30524438;30538201;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31222486;31373491;31409651;31530632;31844290;31848261;31998317;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32522876;32897882;32938616;32983136;33091337;33141586;33243851;33298915;33446560;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34301950;34405274;34509645;34561969;34822310;34932366;35051231;35385551;35580925;36010968;36241641;36284347;37217939;3757028;37938771;38253038;38665916;39990658;40596516;40914422;8566756;8608946;9016565;9242493;9449708;9512519;9524131;9539711;9671485;9701291;9731529;9856836", "class_list": "", "function": "Plays a role in mRNA splicing as a component of the U4/U6-U5 tri-snRNP, one of the building blocks of the spliceosome. May also bind to DNA., [UniProtKB, PubMed, PubMed]; This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "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": "A6NDN1;Q53GB5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0000481 maturation of 5S rRNA;GO:0045585 positive regulation of cytotoxic T cell differentiation", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "O43290-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6Q759-1", "uniprot_id": [ { "id": "SPG17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6Q759", "type": "external" } ], "mass": 251742.0, "length": 2223, "protein_name": "Sperm-associated antigen 17", "gene_name": "SPAG17", "organism": "Human", "refseq_name": "sperm-associated antigen 17", "refseq_ac": [ { "id": "NP_996879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996879", "type": "external" } ], "gene_names_uniprotkb": "SPAG17", "gene_names_refseq": "CT143; PF6; SPAG17; SPGF55", "protein_names_uniprotkb": "Sperm-associated antigen 17; Projection protein PF6 homolog", "protein_names_refseq": "projection protein PF6 homolog; sperm-associated antigen 17", "tax_id": 9606, "disease": "spermatogenic failure 55 (Disease Ontology:DOID:0112337)", "pathway": " (hsa:200162)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15827353;16959974;17081983;19893584;20058876;20546612;26992070;28548327;29174089;29557506;30379171;31217245;31844290;32983136;33141586;35051231;35762854;36116512;39894887", "class_list": "", "function": "Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis., [RefSeq, PubMed]; Component of the central pair apparatus of ciliary axonemes. Plays a critical role in the function and structure of motile cilia. May play a role in endochondral bone formation, most likely because of a function in primary cilia of chondrocytes and osteoblasts (By similarity). Essential for normal spermatogenesis and male fertility (By similarity). Required for normal manchette structure, transport of proteins along the manchette microtubules and formation of the sperm head and flagellum (By similarity). Essential for sperm flagellum development and proper assembly of the respiratory motile cilia central pair apparatus, but not the brain ependymal cilia (By similarity)., [UniProtKB, UniProtKB]; Homozygous missense mutation in SPAG17 gene is associated with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy., [RefSeq, PubMed]; In silico analysis revealed that R1448Q is a potential pathogenic mutation. Immunostaining and western blot assays showed that the R1448Q mutation may exert a negative effect on the steady-state of the SPAG17 protein. Therefore, SPAG17 may be a new pathogenic gene causing Asthenozoospermia (AZS) ., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Reduced SPAG17 Expression in Systemic Sclerosis Triggers Myofibroblast Transition and Drives Fibrosis., [RefSeq, PubMed]; This gene encodes a central pair protein present in the axonemes of cells with a '9 + 2' organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8NAZ1;Q9NT21", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:1990716 axonemal central apparatus;GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0005874 microtubule;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:1904158 axonemal central apparatus assembly;GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0007283 spermatogenesis;GO:0044458 motile cilium assembly;GO:1905198 manchette assembly", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q6Q759-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5A3E0-1", "uniprot_id": [ { "id": "POTEF_HUMAN", "url": "https://www.uniprot.org/uniprot/A5A3E0", "type": "external" } ], "mass": 121445.0, "length": 1075, "protein_name": "POTE ankyrin domain family member F", "gene_name": "POTEF", "organism": "Human", "refseq_name": "POTE ankyrin domain family member F", "refseq_ac": [ { "id": "NP_001093241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093241", "type": "external" } ], "gene_names_uniprotkb": "POTEF; A26C1B", "gene_names_refseq": "A26C1B; POTE2alpha; POTEACTIN; POTEF", "protein_names_uniprotkb": "POTE ankyrin domain family member F; ANKRD26-like family C member 1B; Chimeric POTE-actin protein", "protein_names_refseq": "ANKRD26-like family C member 1B; POTE ankyrin domain family member F; POTE-2 alpha-actin; beta actin; chimeric POTE-actin protein; prostate, ovary, testis expressed protein on chromosome 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:728378)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;17101985;19669888;21081667;22299025;23646949;23783831;24397554;24714562;25810538;26154972;26811146;27452731;27543614;27600516;27726376;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28855257;29242379;29314611;29393594;29508533;29557506;29632046;29632711;29769354;29774024;29786170;29789417;30192525;30315122;30397120;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34093574;34171305;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36581221;37217939;37581408;38253038;38315012", "class_list": "", "function": "Beta-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination., [RefSeq, PubMed]; POTE gene family encodes a new family of proapoptotic proteins., [RefSeq, PubMed]; The Role of Trp79 in beta-Actin on Histidine Methyltransferase SETD3 Catalysis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "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": "A6NC34", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0098973 structural constituent of postsynaptic actin cytoskeleton", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0005938 cell cortex;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007409 axonogenesis;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "A5A3E0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBC9-1", "uniprot_id": [ { "id": "SPRR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBC9", "type": "external" } ], "mass": 18154.0, "length": 169, "protein_name": "Small proline-rich protein 3", "gene_name": "SPRR3", "organism": "Human", "refseq_name": "small proline-rich protein 3", "refseq_ac": [ { "id": "NP_001091058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091058", "type": "external" } ], "gene_names_uniprotkb": "SPRR3; SPRC", "gene_names_refseq": "SPRR3", "protein_names_uniprotkb": "Small proline-rich protein 3; 22 kDa pancornulin; Cornifin beta; Esophagin", "protein_names_refseq": "22 kDa pancornulin; cornifin beta; esophagin; small proline-rich protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:6707); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11230159;11237011;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20599699;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;29557506;30850686;32983136;35126350;36685674;39134193;7543090;7829876;8018055;8325635;8809402;8824274;8999895;9395522;9565599", "class_list": "", "function": "Cross-linked envelope protein of keratinocytes., [UniProtKB]; Fine particulate matter (PM2.5) inhibits ciliogenesis by increasing SPRR3 expression via c-Jun activation in RPE cells and skin keratinocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Predictive role and molecular biological function of proline-rich small repeat protein SPRR3 in the diagnosis of lung adenocarcinoma., [RefSeq, PubMed]; SPRR3 Contributes to Aggressiveness of Pancreatic Cancer Cells via NF-kappaB Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Small Proline-Rich Protein 3 Regulates IL-33/ILC2 Axis to Promote Allergic Airway Inflammation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A5YKK8;B2R4G8;D3DV32;O75597;Q4ZGI7;Q5T525;Q8NET7;Q9UDG3", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation;GO:0042060 wound healing", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9UBC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L03-1", "uniprot_id": [ { "id": "SPT17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L03", "type": "external" } ], "mass": 43499.0, "length": 361, "protein_name": "Spermatogenesis-associated protein 17", "gene_name": "SPATA17", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 17", "refseq_ac": [ { "id": "NP_620151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620151", "type": "external" } ], "gene_names_uniprotkb": "SPATA17", "gene_names_refseq": "CFAP305; FAP305; IQCH; MOT17; MSRG-11; MSRG11; SPATA17", "protein_names_uniprotkb": "Spermatogenesis-associated protein 17", "protein_names_refseq": "IQ motif containing H; spermatogenesis-associated protein 17; spermatogenesis-related protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:128153)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17081983;19483714;19680270;23079716;35051231", "class_list": "", "function": "Elevated production of the SPATA17 protein disturbs the normal development of male germ cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The frequency of the SNP3 allele was significantly elevated in the meiotic arrest group (P < 0.05). This study suggests that SPATA17 may play a critical role in human spermatogenesis, especially in meiosis. 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A5D6N2", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96L03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KR1-1", "uniprot_id": [ { "id": "ZFR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KR1", "type": "external" } ], "mass": 117012.0, "length": 1074, "protein_name": "Zinc finger RNA-binding protein", "gene_name": "ZFR", "organism": "Human", "refseq_name": "zinc finger RNA-binding protein", "refseq_ac": [ { "id": "NP_057191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057191", "type": "external" } ], "gene_names_uniprotkb": "ZFR", "gene_names_refseq": "SPG71; ZFR1; ZFR", "protein_names_uniprotkb": "Zinc finger RNA-binding protein; M-phase phosphoprotein homolog; hZFR", "protein_names_refseq": "M-phase phosphoprotein homolog; zinc finger RNA-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:51663)", "pathway_count": 1, "publication_count": 163, "publication_id_list": "10931946;11237011;11574164;17074750;17081983;17287340;17697703;18452278;18669648;18691976;18707149;18767875;18991276;19413330;19608861;19664995;19690332;20068230;20068231;20166139;20305658;20676906;22121020;22661428;22898188;23186163;23301498;23481700;23719902;23783831;24366607;24482476;24714562;24715725;25418920;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26929215;26992070;27114449;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28446606;28514659;28604694;28657654;28832583;28834231;28904123;29237092;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30410026;30429286;30484775;30524438;30620550;30779550;30833945;30914198;31010678;31092671;31154438;31217245;31492838;31530632;31637018;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32574038;32870666;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33433801;33516252;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34561969;34725712;34846842;34932366;35051231;35132862;35251023;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;36581221;37217939;37340703;37516591;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422;41350704", "class_list": "", "function": "Circular RNA circZFR Promotes Hepatocellular Carcinoma Progression by Regulating miR-375/HMGA2 Axis., [RefSeq, PubMed]; Circulating RNA ZFR promotes hepatocellular carcinoma cell proliferation and epithelial-mesenchymal transition process through miR-624-3p/WEE1 axis., [RefSeq, PubMed]; Hyperglycaemia elevates ZFR in vivo and in vitro. ZFR can promote the proliferation and migration of human retinal microvascular endothelial cells cultured in high glucose condition., [RefSeq, PubMed]; Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity)., [UniProtKB]; Overexpression of ZFR in CRC and liver cancer cells led to accelerated tumor development. Consistently, knockdown of ZFR resulted in significantly decelerated tumor development., [RefSeq, PubMed]; The circular RNA circZFR phosphorylates Rb promoting cervical cancer progression by regulating the SSBP1/CDK2/cyclin E1 complex. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 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": 86, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 86, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 86, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 91, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 87, "binding_glycan_count": 0, "secondary_ac_list": "B2RNR5;Q05C08;Q3B7X5;Q6P5A3;Q86UA0;Q9H6V4;Q9NTI1;Q9Y687", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "Q96KR1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JR98-1", "uniprot_id": [ { "id": "DYLT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JR98", "type": "external" } ], "mass": 23353.0, "length": 221, "protein_name": "Dynein light chain Tctex-type 4", "gene_name": "DYNLT4", "organism": "Human", "refseq_name": "dynein light chain Tctex-type 4", "refseq_ac": [ { "id": "NP_001013654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013654", "type": "external" } ], "gene_names_uniprotkb": "DYNLT4; TCTEX1D4", "gene_names_refseq": "DYNLT4; TCTEX1D4", "protein_names_uniprotkb": "Dynein light chain Tctex-type 4; Protein N22.1; Tctex-2-beta; Tctex1 domain-containing protein 4", "protein_names_refseq": "Tctex1 domain containing 4; Tctex2 beta; dynein light chain Tctex-type 4; novel Tctex-1 family domain-containing protein; protein N22.1; tctex-2-beta; tctex1 domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:343521)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "16982625;23789093;24606217;34750991;39894887", "class_list": "", "function": "40 novel TCTEX1D4 interactors in human spermatozoa have been identified., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008157 protein phosphatase 1 binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle;GO:0005815 microtubule organizing center;GO:0036126 sperm flagellum", "go_biological_process": "GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5JR98-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEL6-1", "uniprot_id": [ { "id": "TP4AP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEL6", "type": "external" } ], "mass": 90852.0, "length": 797, "protein_name": "Short transient receptor potential channel 4-associated protein", "gene_name": "TRPC4AP", "organism": "Human", "refseq_name": "short transient receptor potential channel 4-associated protein isoform a", "refseq_ac": [ { "id": "NP_056453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056453", "type": "external" } ], "gene_names_uniprotkb": "TRPC4AP; C20orf188; TRRP4AP", "gene_names_refseq": "C20orf188; PPP1R158; TRPC4AP; TRRP4AP; TRUSS", "protein_names_uniprotkb": "Short transient receptor potential channel 4-associated protein; Protein TAP1; Protein TRUSS; TNF-receptor ubiquitous scaffolding/signaling protein; Trp4-associated protein; Trpc4-associated protein", "protein_names_refseq": "TNF-receptor ubiquitous scaffolding/signaling protein; TRP4-associated protein; protein phosphatase 1, regulatory subunit 158; short transient receptor potential channel 4-associated protein isoform a; short transient receptor potential channel 4-associated protein; trpc4-associated protein; tumor necrosis factor receptor-associated ubiquitous scaffolding and signaling protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26133); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "11050376;11226139;11243859;11301059;12015988;1422598;14634208;19966799;20025796;20551172;20716668;22424782;22706990;22869377;23481700;24397554;24714562;24715725;25389312;25418920;25576301;25645385;25765567;25802875;25855297;25880248;26038816;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28860189;28904123;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29704259;29779948;29786170;29789417;30315122;30410026;30429286;30484775;30524438;31217245;31844290;32157095;32265295;32357974;32387766;32428920;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37938771", "class_list": "", "function": "Hepatocyte TRUSS promotes pathological stimuli-induced non alcoholic fatty liver disease and metabolic disorders, through activation of NF-kappaB by promoting ubiquitination and degradation of IkappaBalpha, [RefSeq, PubMed]; Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism., [RefSeq, PubMed]; Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex required for cell cycle control (PubMed:20551172, PubMed:29779948). The DCX(TRPC4AP) complex specifically mediates the polyubiquitination and subsequent degradation of MYC as part of the DesCEND (destruction via C-end degrons) pathway (PubMed:20551172, PubMed:29779948). The DesCEND (destruction via C-end degrons) pathway recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation (PubMed:29779948). The DCX(TRPC4AP) complex specifically recognizes proteins with an arginine at the minus 3 position (R-3 motif) at the C-terminus, such as MYC, leading to their ubiquitination and degradation (PubMed:29779948). Also participates in the activation of NFKB1 in response to ligation of TNFRSF1A, possibly by linking TNFRSF1A to the IKK signalosome (By similarity). Involved in JNK activation via its interaction with TRAF2 (By similarity). Also involved in elevation of endoplasmic reticulum Ca(2+) storage reduction in response to CHRM1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; TRUSS is a novel substrate of E3 ligase Skp2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "E1P5Q0;E1P5Q1;Q96H82;Q9BVB8;Q9H429;Q9UFS6", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0070588 calcium ion transmembrane transport;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0140627 ubiquitin-dependent protein catabolic process via the C-end degron rule pathway", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q8TEL6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEY4-1", "uniprot_id": [ { "id": "VATC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEY4", "type": "external" } ], "mass": 48759.0, "length": 427, "protein_name": "V-type proton ATPase subunit C 2", "gene_name": "ATP6V1C2", "organism": "Human", "refseq_name": "V-type proton ATPase subunit C 2 isoform a", "refseq_ac": [ { "id": "NP_001034451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034451", "type": "external" } ], "gene_names_uniprotkb": "ATP6V1C2", "gene_names_refseq": "ATP6C2; ATP6V1C2; VMA5", "protein_names_uniprotkb": "V-type proton ATPase subunit C 2; V-ATPase subunit C 2; Vacuolar proton pump subunit C 2", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2; V-ATPase C2 subunit; V-type proton ATPase subunit C 2 isoform a; V-type proton ATPase subunit C 2; vacuolar proton pump subunit C 2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:245973); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)", "pathway_count": 6, "publication_count": 91, "publication_id_list": "10029572;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12384298;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;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;27543614;27648300;28066558;28199306;28199315;2825632;2848506;29053970;29056322;29123071;29236692;29596046;2986535;30061680;30181260;30337524;3061785;30651352;31901859;31959358;32157095;32938616;33298915;33936100;33968037;34087483;34509645;35051231;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "Multi-cancer V-ATPase molecular signatures: A distinctive balance of subunit C isoforms in esophageal carcinoma., [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 (By similarity). 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 (By similarity). Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; 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 C subunit isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q96EL8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0000221 vacuolar proton-transporting V-type ATPase, V1 domain;GO:0033180 proton-transporting V-type ATPase, V1 domain", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q8NEY4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TIE3-1", "uniprot_id": [ { "id": "VW5B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TIE3", "type": "external" } ], "mass": 133802.0, "length": 1220, "protein_name": "von Willebrand factor A domain-containing protein 5B1", "gene_name": "VWA5B1", "organism": "Human", "refseq_name": "von Willebrand factor A domain-containing protein 5B1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001034589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034589", "type": "external" } ], "gene_names_uniprotkb": "VWA5B1", "gene_names_refseq": "VWA5B1", "protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 5B1", "protein_names_refseq": "von Willebrand factor A domain-containing protein 5B1 isoform 1 precursor; von Willebrand factor A domain-containing protein 5B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:127731)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;18669648;20379614;25418920;25880248;28904123;29557506;32357974;33298915;33912179;35051231", "class_list": "", "function": "Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729], [RefSeq, PubMed]", "predicted_glycosites": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "A4IF35;A4IF36;Q3ZCM4;Q6ZUB4;Q96M71", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5TIE3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBM0-1", "uniprot_id": [ { "id": "VEZA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBM0", "type": "external" } ], "mass": 88665.0, "length": 779, "protein_name": "Vezatin", "gene_name": "VEZT", "organism": "Human", "refseq_name": "vezatin isoform b", "refseq_ac": [ { "id": "NP_060069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060069", "type": "external" } ], "gene_names_uniprotkb": "VEZT", "gene_names_refseq": "VEZATIN; VEZT", "protein_names_uniprotkb": "Vezatin", "protein_names_refseq": "vezatin isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:55591)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11080149;11237011;15090598;16199027;21156161;25576301;25678572;25792470;25880248;25892735;26375851;26992070;27600516;27846572;27856244;28832583;28901453;28904123;29242379;29493099;29508533;29557506;29605689;29632046;29632711;29769354;30315122;31844290;32157095;32357974;32502341;32897882;32938616;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34171305;34357683;34561969;34642320;34932366;35051231;36010968;36241641", "class_list": "", "function": "(Microbial infection) In case of Listeria infection, promotes bacterial internalization by participating in myosin VIIa recruitment to the entry site., [UniProtKB, PubMed]; Function of mouse vezatin in mouse blastocyst morphogenesis, [RefSeq, PubMed]; MiR-43c directly targets adherens junctions' transmembrane protein (VEZT) and suppresses VEZT protein expression., [RefSeq, PubMed]; Plays a pivotal role in the establishment of adherens junctions and their maintenance in adult life. Required for morphogenesis of the preimplantation embryo, and for the implantation process., [UniProtKB, UniProtKB]; This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3' UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]., [RefSeq]; This study identified the most effective small activating RNA via real-time PCR and Western blot. The selected small activating RNA inhibited the growth, invasion and migration of gastric cancer cells by specially reactivating VEZT., [RefSeq, PubMed]; VEZT expression levels can be considered as a biomarker for gastric cancer progression, lymphatic metastasis and as a novel independent prognostic factor., [RefSeq, PubMed]; Vezatin and nearby SNP rs10859871 may have a role in endometriosis [meta-analysis], [RefSeq, PubMed]; Vezatin regulates seizures by controlling AMPAR-mediated synaptic activity. Publication Status: Online-Only, [RefSeq, PubMed]; We found a genetic association between rs11031006 (FSHB) SNP and endometriosis. WNT4 and VEZT genes constitute the most consistently associated genes with endometriosis. In the present study, an association of rs7521902 (WNT4) and rs10859871 (VEZT) was confirmed in women with endometriosis at the genotypic but not the allelic level., [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": 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": "Q6P1Q3;Q9H2F4;Q9H2U5;Q9NT70;Q9NVW0;Q9UF91", "ec_number_list": [], "go_molecular_function": "GO:0017022 myosin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0001669 acrosomal vesicle;GO:0002142 stereocilia ankle link complex", "go_biological_process": "GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9HBM0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUJ3-1", "uniprot_id": [ { "id": "T11L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUJ3", "type": "external" } ], "mass": 57035.0, "length": 509, "protein_name": "T-complex protein 11-like protein 1", "gene_name": "TCP11L1", "organism": "Human", "refseq_name": "T-complex protein 11-like protein 1", "refseq_ac": [ { "id": "NP_001139013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139013", "type": "external" } ], "gene_names_uniprotkb": "TCP11L1", "gene_names_refseq": "TCP11L1; dJ85M6.3", "protein_names_uniprotkb": "T-complex protein 11-like protein 1", "protein_names_refseq": "T-complex protein 11-like protein 1; t-complex 11, testis-specific-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55346)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;18669648;20205591;23186163;25880248;26154972;26992070;27600516;28514659;28832583;28834231;28904123;29242379;29393594;29557506;29789417;30833945;31154438;31217245;31844290;32157095;32161166;32357974;32488085;32897882;32938616;33592498;33717175;33968037;33981976;34171305;34405274;34932366;35051231;35561310;35580925", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[J Infect Dis. 2010 Aug 15;202(3):501], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "D3DR01;Q8IVX4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005874 microtubule", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NUJ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969T9-1", "uniprot_id": [ { "id": "WBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969T9", "type": "external" } ], "mass": 28087.0, "length": 261, "protein_name": "WW domain-binding protein 2", "gene_name": "WBP2", "organism": "Human", "refseq_name": "WW domain-binding protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001317428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317428", "type": "external" } ], "gene_names_uniprotkb": "WBP2", "gene_names_refseq": "DFNB107; GRAMD6; WBP-2; WBP2", "protein_names_uniprotkb": "WW domain-binding protein 2; WBP-2", "protein_names_refseq": "WW domain-binding protein 2 isoform 2", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 107 (Disease Ontology:DOID:0080262)", "pathway": " (hsa:23558)", "pathway_count": 1, "publication_count": 91, "publication_id_list": "11237011;16094384;16772533;20068231;21642474;23481700;24397554;24714562;25418920;25502872;25576301;25645385;25892735;26154972;26375851;26881968;26992070;27543614;27600516;27846572;27862975;27920218;28218747;28228285;28467828;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30626607;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33658485;33691108;33837178;33912179;33968037;33981976;34117091;34171305;34185709;34197030;34357683;34433824;34509645;35051231;35154160;35251023;35318648;35494241;35561310;35580925;36010968;37938771;38665916;39531497;39534244;9169421;9202023", "class_list": "", "function": "Acts as a transcriptional coactivator of estrogen and progesterone receptors (ESR1 and PGR) upon hormone activation (PubMed:16772533). In presence of estrogen, binds to ESR1-responsive promoters (PubMed:16772533). Synergizes with YAP1 to enhance PGR activity (PubMed:16772533). Modulates expression of post-synaptic scaffolding proteins via regulation of ESR1, ESR2 and PGR (By similarity)., [UniProtKB, PubMed, 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 that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]., [RefSeq]; WBP2 inhibits microRNA biogenesis via interaction with the microprocessor complex. Publication Status: Online-Only, [RefSeq, PubMed]; WBP2 negatively regulates the Hippo pathway by competitively binding to WWC3 with LATS1 to promote non-small cell lung cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; WBP2 promotes BTRC mRNA stability to drive migration and invasion in triple-negative breast cancer via NF-kappaB activation., [RefSeq, PubMed]; WW domain-binding protein 2 overexpression prevents diet-induced liver steatosis and insulin resistance through AMPKbeta1. 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": 13, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DFG2;O95638", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0031490 chromatin DNA binding;GO:0030331 nuclear estrogen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032570 response to progesterone;GO:0045893 positive regulation of DNA-templated transcription;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0043627 response to estrogen", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q969T9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T011-1", "uniprot_id": [ { "id": "SZT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T011", "type": "external" } ], "mass": 378029.0, "length": 3432, "protein_name": "KICSTOR complex protein SZT2", "gene_name": "SZT2", "organism": "Human", "refseq_name": "KICSTOR complex protein SZT2 isoform 2", "refseq_ac": [ { "id": "NP_056099", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056099", "type": "external" } ], "gene_names_uniprotkb": "SZT2; C1orf84; KIAA0467", "gene_names_refseq": "C1orf84; DEE18; EIEE18; KIAA0467; KICS1; SZT2A; SZT2B; SZT2", "protein_names_uniprotkb": "KICSTOR complex protein SZT2; Seizure threshold 2 protein homolog", "protein_names_refseq": "KICSTOR complex protein SZT2 isoform 2; KICSTOR complex protein SZT2; SZT2 subunit KICSTOR complex; SZT2, KICSTOR complex subunit; seizure threshold 2 protein homolog", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 18 (Disease Ontology:DOID:0080413)", "pathway": " (hsa:23334); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10737800;11237011;15028280;15854902;15878852;16098514;17470430;18497260;18604198;20045724;20381137;22053050;22575674;22980980;23186163;23481700;23723238;23932106;24081491;24095279;24275569;24324832;24715725;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25645385;25819761;25892735;26154972;26375851;26449471;26586190;26929215;26972053;26992070;27308486;27487210;27600516;27648300;27846572;27862975;27920218;28063628;28066558;28199306;28199315;28218747;28228285;28411811;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29731959;29769354;29786170;29789417;30061680;30181260;30315122;30429286;30651352;31154438;31530632;31844290;31848261;31937595;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33681650;33717175;33912179;33936100;33968037;34087483;34211107;34405274;34509645;34685691;35051231;35318648;35352205;35580925;36241641;36284347;36361881;37217939;37938771;38134649;7499430", "class_list": "", "function": "A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant. Publication Status: Online-Only, [RefSeq, PubMed]; As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose (PubMed:28199306, PubMed:28199315). May play a role in the cellular response to oxidative stress (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review. Review article, [RefSeq, PubMed]; Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review. Review article, [RefSeq, PubMed]; Identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells, [RefSeq, PubMed]; Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in SZT2 cause a severe type of autosomal-recessive infantile encephalopathy., [RefSeq, PubMed]; The SZT2 Interactome Unravels New Functions of the KICSTOR Complex. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]., [RefSeq]; We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate intellectual disability without seizures. 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0PJK5;A7E2X4;O75055;Q5JUY7;Q5T012;Q5XKC7;Q6ZNI8;Q6ZT24;Q7Z636;Q8NAY9;Q9H5H7;Q9UFQ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0140007 KICSTOR complex;GO:0005777 peroxisome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:1901668 regulation of superoxide dismutase activity;GO:0007417 central nervous system development;GO:0009791 post-embryonic development;GO:0042149 cellular response to glucose starvation;GO:0034198 cellular response to amino acid starvation", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q5T011-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43314-1", "uniprot_id": [ { "id": "VIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43314", "type": "external" } ], "mass": 140407.0, "length": 1243, "protein_name": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2", "gene_name": "PPIP5K2", "organism": "Human", "refseq_name": "inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_001263206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263206", "type": "external" } ], "gene_names_uniprotkb": "PPIP5K2; HISPPD1; KIAA0433; VIP2", "gene_names_refseq": "CFAP160; DFNB100; HISPPD1; IP7K2; PPIP5K2; VIP2", "protein_names_uniprotkb": "Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2; 2.7.4.24; Diphosphoinositol pentakisphosphate kinase 2; Histidine acid phosphatase domain-containing protein 1; InsP6 and PP-IP5 kinase 2; VIP1 homolog 2; hsVIP2", "protein_names_refseq": "VIP1 homolog 2; deafness, autosomal recessive 100; histidine acid phosphatase domain-containing protein 1; inositol heptaphosphate kinase 2; inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1; inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2; insP6 and PP-IP5 kinase 2", "tax_id": 9606, "disease": "nonsyndromic deafness (Disease Ontology:DOID:0050563); autosomal recessive nonsyndromic deafness 100 (Disease Ontology:DOID:0111638); keratoconus (Disease Ontology:DOID:10126)", "pathway": " (hsa:23262); (R-HSA-1855167)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11237011;11502751;11909533;12084730;12105228;12121577;17412958;17690096;17702752;17705785;18355727;18669648;18981179;19690332;21222653;22119861;23186163;23240582;23481700;24275569;24714562;25880248;26728094;26811146;26992070;27600516;27846572;28904123;29437277;29557506;29590114;30779550;30956131;31492838;31844290;31852976;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;34087483;34357683;34509645;34561969;34645979;34932366;35051231;35580925;36010968;36284347;37217939;37938771;41350704;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 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). 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 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). Phosphorylates inositol hexakisphosphate (InsP6) at position 1 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Alternatively, phosphorylates PP-InsP5 at position 1, produced by IP6Ks from InsP6, to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Required for normal hearing (PubMed:29590114)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; 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]; Data suggest that the enzyme-substrate forces are predictive of the various diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2) catalytic activities., [RefSeq, PubMed]; Describe the PPIP5K2's conformational dynamics, its unprecedented topological presentation of nucleotide and inositol phosphate, and the charge balance that facilitates partly associative in-line phosphoryl transfer Publication Status: Online-Only, [RefSeq, PubMed]; PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. Publication Status: Online-Only, [RefSeq, PubMed]; PPIP5K2 promotes colorectal carcinoma pathogenesis through facilitating DNA homologous recombination repair., [RefSeq, PubMed]; The specificity constants for PPIP5K2 revise upwards by one-to-two orders of magnitude the inherent catalytic activities of this enzyme, and we show its equilibrium point favours 80-90% depletion of InsP/-InsP. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 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": 11, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 26, "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": "A1NI53;A6NGS8;Q8TB50", "ec_number_list": [ { "id": "2.7.4.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.24", "type": "external" } ], "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_biological_process": "GO:0006020 inositol metabolic process;GO:0007605 sensory perception of sound;GO:0043647 inositol phosphate metabolic process;GO:0032958 inositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O43314-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5ST30-1", "uniprot_id": [ { "id": "SYVM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5ST30", "type": "external" } ], "mass": 118490.0, "length": 1063, "protein_name": "Valine--tRNA ligase, mitochondrial", "gene_name": "VARS2", "organism": "Human", "refseq_name": "valine--tRNA ligase, mitochondrial isoform 3", "refseq_ac": [ { "id": "NP_001161205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161205", "type": "external" } ], "gene_names_uniprotkb": "VARS2; KIAA1885; VARS2L; VARSL", "gene_names_refseq": "COXPD20; VALRS; VARS2L; VARS2; VARSL", "protein_names_uniprotkb": "Valine--tRNA ligase, mitochondrial; 6.1.1.9; ValRS; Valyl-tRNA synthetase-like; Valyl-tRNA synthetase", "protein_names_refseq": "valine tRNA ligase 2, mitochondrial (putative); valine--tRNA ligase, mitochondrial isoform 3; valyl-tRNA synthetase like", "tax_id": 9606, "disease": "myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); combined oxidative phosphorylation deficiency 20 (Disease Ontology:DOID:0111478); mitochondrial metabolism disease (Disease Ontology:DOID:700); mitochondrial encephalomyopathy (Disease Ontology:DOID:890)", "pathway": " (hsa:57176); (R-HSA-379726)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;18400783;20503108;23481700;24827421;25058219;26992070;28218747;28832583;28855257;28904123;29242379;29769354;30315122;31064326;31529142;31844290;32157095;32350084;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33968037;33981976;34087483;34171305;34211107;34357683;34509645;35051231;36010968;36215666;7755634;8078941;9278442;9466989", "class_list": "", "function": "Catalyzes the attachment of valine to tRNA(Val) in a two-step reaction: valine is first activated by ATP to form Val-AMP and then transferred to the acceptor end of tRNA(Val)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; Data indicate that variations in the levels of VARS2L between tissue types and patients could underlie the difference in clinical presentation between individuals homoplasmic for the 1624C>T MTTV (equivalent to mt-tRNAVal C25U) mutation., [RefSeq, PubMed]; Report two additional cases of two non-related young girls from Sardinia, born from non-consanguineous and healthy parents, carrying the aforesaid homozygous VARS2 variant. At onset both the patients presented with worsening psychomotor delay, muscle hypotonia and brisk tendon reflexes Publication Status: Online-Only, [RefSeq, PubMed]; Study shows A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension, [RefSeq, PubMed]; This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]., [RefSeq]; VARS2 V552V may be considered as a prognostic factor for survival in patients with early breast cancer. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2ABL7;B4DET4;B4E3P5;F5GXJ0;F5H323;Q2M2A0;Q59FI1;Q5SQ96;Q5SS98;Q6DKJ5;Q6ZV24;Q96GN2;Q96H77;Q96Q02;Q9H6R2;Q9UFH7", "ec_number_list": [ { "id": "6.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.9", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0004832 valine-tRNA ligase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006438 valyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q5ST30-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92750-1", "uniprot_id": [ { "id": "TAF4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92750", "type": "external" } ], "mass": 91091.0, "length": 862, "protein_name": "Transcription initiation factor TFIID subunit 4B", "gene_name": "TAF4B", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 4B isoform 1", "refseq_ac": [ { "id": "NP_001280654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280654", "type": "external" } ], "gene_names_uniprotkb": "TAF4B; TAF2C2; TAFII105", "gene_names_refseq": "SPGF13; TAF2C2; TAF4B; TAFII105", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 4B; TAF(II)105; TAFII-105; TAFII105; Transcription initiation factor TFIID 105 kDa subunit", "protein_names_refseq": "TAF(II)105; TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa; TATA box binding protein (TBP)-associated factor 4B; TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD; transcription initiation factor TFIID 105 kDa subunit; transcription initiation factor TFIID subunit 4B isoform 1; transcription initiation factor TFIID subunit 4B", "tax_id": 9606, "disease": "spermatogenic failure 13 (Disease Ontology:DOID:0070182)", "pathway": " (hsa:6875); (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": 118, "publication_id_list": "10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10828057;10849440;10884347;11237011;11239457;11433015;11447225;11466336;11486021;11511362;11546806;11551930;11567023;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12393879;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15601843;15866171;16088961;16322561;17108107;17349958;17591690;18490454;19121998;1939271;19413330;19664995;19965871;20068230;20068231;20959462;21317932;23000554;23186163;23481700;23485397;23676219;24145406;24431330;2449431;24874608;25576301;25645385;27341508;27846572;28657654;29351928;29557506;30059200;30336530;30620550;31377750;31844290;32157095;32357974;32387766;32502024;32897882;32983136;33141586;33214551;33298915;33691108;33912179;33936100;33968037;34019948;34171305;34561969;35051231;35254053;35289036;35580925;37541260;39531497;40596516;7151173;7601352;7660122;7660129;7660130;8156590;8330735;8370526;8465201;8490964;8858156;8946909;9256425;9353262;9405375;9450929;9489704;9925639", "class_list": "", "function": "Cell type-specific subunit of the general transcription factor TFIID that may function as a gene-selective coactivator in certain cells. TFIID is a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. TAF4B is a transcriptional coactivator of the p65/RELA NF-kappa-B subunit. Involved in the activation of a subset of antiapoptotic genes including TNFAIP3. May be involved in regulating folliculogenesis. Through interaction with OCBA/POU2AF1, acts as a coactivator of B-cell-specific transcription. Plays a role in spermiogenesis and oogenesis., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Nonobstructive Azoospermia variants included MTRR c.537T>C (rs161870), odds ratios (OR), 3.686, 95% confidence interval (CI), 1.228-11.066; MTRR, c.1049A>G (rs162036), OR, 3.686, 95% CI, 1.228-11.066; PIWIL1, c.1580G>A (rs1106042), OR, 4.737, 95% CI, 1.314-17.072; TAF4B, c.1815T>C (rs1677016), OR, 3.599, 95% CI, 1.255-10.327; and SOX10 c.927T>C (rs139884), OR, 3.192, 95% CI, 1.220-8.353. Publication Status: Online-Only, [RefSeq, PubMed]; TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]., [RefSeq]; The c.11G>T mutation of the TAF4B gene may be associated with NOA in a Chinese population., [RefSeq, PubMed]; The existence of a highly conserved TAF4b-dependent gene regulatory network. Publication Status: Online-Only, [RefSeq, PubMed]; The methionine synthase reductase (MTRR), TAF4B protein, PIWI protein (PIWIL1) four single nucleotide polymorphisms (SNPs) are not shown to be significantly related with non-obstructive azoospermia (NOA)., [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": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q29YA4;Q29YA5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0051059 NF-kappaB binding;GO:0016251 RNA polymerase II general transcription initiation factor activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0001650 fibrillar center;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0007283 spermatogenesis;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0042789 mRNA transcription by RNA polymerase II;GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q92750-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P2D8-1", "uniprot_id": [ { "id": "XRRA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P2D8", "type": "external" } ], "mass": 89864.0, "length": 792, "protein_name": "X-ray radiation resistance-associated protein 1", "gene_name": "XRRA1", "organism": "Human", "refseq_name": "X-ray radiation resistance-associated protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001257309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257309", "type": "external" } ], "gene_names_uniprotkb": "XRRA1", "gene_names_refseq": "XRRA1", "protein_names_uniprotkb": "X-ray radiation resistance-associated protein 1", "protein_names_refseq": "X-ray radiation resistance-associated protein 1 isoform 2; X-ray radiation resistance-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:143570)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12908878;18452278;23481700;28228285;29082250;29557506;30315122;30379171;30524438;31844290;32357974;32387766;32938616;33537174;33912179;33981976;35580925;36089080", "class_list": "", "function": "Genetic architecture of asthma in African American patients., [RefSeq, PubMed]; May be involved in the response of cells to X-ray radiation., [UniProtKB, PubMed]; Molecular cloning and gene expression patterns of XRRA1. Publication Status: Online-Only, [RefSeq, PubMed]; Our results identify a novel link between XRRA1 and the ATM/CHK1/2 pathway and suggest that XRRA1 is involved in a DNA damage response that drives radio- and chemoresistance by regulating the ATM/CHK1/2 pathway. Erratum:[Biomed Res Int. 2021 Feb 19;2021:3030267. doi: 10.1155/2021/3030267. PMID: 33728327], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5MD90;J3KNJ1;Q7RTT7;Q7Z463;Q7Z4U0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0010165 response to X-ray", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6P2D8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y458-1", "uniprot_id": [ { "id": "TBX22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y458", "type": "external" } ], "mass": 57910.0, "length": 520, "protein_name": "T-box transcription factor TBX22", "gene_name": "TBX22", "organism": "Human", "refseq_name": "T-box transcription factor TBX22 isoform 1", "refseq_ac": [ { "id": "NP_001103348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103348", "type": "external" } ], "gene_names_uniprotkb": "TBX22; TBOX22", "gene_names_refseq": "ABERS; CLPA; CPX; TBX22; TBXX; dJ795G23.1", "protein_names_uniprotkb": "T-box transcription factor TBX22; T-box protein 22", "protein_names_refseq": "T-box 22; T-box protein 22; T-box transcription factor TBX22 isoform 1; T-box transcription factor TBX22", "tax_id": 9606, "disease": "X-linked cleft palate with or without ankyloglossia (Disease Ontology:DOID:0060613); Abruzzo-Erickson syndrome (Disease Ontology:DOID:0111826); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:50945)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11024289;11237011;11559848;12374769;14729838;16959974;22784330;23033978;26154972;29932061;31154438;31844290;32983136;33298915;34211107;34561969;35051231;36901693", "class_list": "", "function": "A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22. Publication Status: Online-Only, [RefSeq, PubMed]; Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia (CPX) phenotype observed in CPX patients., [RefSeq, PubMed]; Findings indicate the important role of T-box 22 protein (TBX22) in familial cases with X-linked cleft palate., [RefSeq, PubMed]; Four novel TBX22 splice site mutations in North American and Brazilian cleft palate families., [RefSeq, PubMed]; Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis., [UniProtKB]; This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JZ06;Q96LC0;Q9HBF1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA 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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0001708 cell fate specification;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": 1.9, "record_id": "Q9Y458-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRC1-1", "uniprot_id": [ { "id": "ST7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRC1", "type": "external" } ], "mass": 67166.0, "length": 585, "protein_name": "Suppressor of tumorigenicity 7 protein", "gene_name": "ST7", "organism": "Human", "refseq_name": "suppressor of tumorigenicity 7 protein isoform 5", "refseq_ac": [ { "id": "NP_060882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060882", "type": "external" } ], "gene_names_uniprotkb": "ST7; FAM4A1; HELG; RAY1", "gene_names_refseq": "ETS7q; FAM4A1; FAM4A; HELG; RAY1; SEN4; ST7; TSG7", "protein_names_uniprotkb": "Suppressor of tumorigenicity 7 protein; Protein FAM4A1; Protein HELG", "protein_names_refseq": "family with sequence similarity 4, subfamily A, member 1; suppression of tumorigenicity 7 (breast); suppressor of tumorigenicity 7 protein isoform 5; suppressor of tumorigenicity 7 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7982)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10889047;11237011;11279520;11726923;12213198;16474848;18691976;19691289;20628086;24366607;24453002;24714562;24715725;25645385;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29331515;29769354;30315122;30410026;30945288;31217245;31844290;32157095;32387766;32488085;32938616;32983136;33691108;33717175;33912179;33936100;33968037;34171305;34561969;34932366;35051231;35580925;36010968", "class_list": "", "function": "Inflammation-dependent overexpression of c-Myc enhances CRL4(DCAF4) E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer., [RefSeq, PubMed]; May act as a tumor suppressor., [UniProtKB, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; The tumor suppressor ST7 is a key gene silenced by PRMT5., [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": 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": "A4D0V2;Q5CZ72;Q7LE31;Q7LE32;Q8NA32;Q8NEJ8;Q8TDI9;Q9BWX3;Q9BWX4;Q9NRC2;Q9NXZ7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0045595 regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9NRC1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6GPH4-1", "uniprot_id": [ { "id": "XAF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6GPH4", "type": "external" } ], "mass": 34626.0, "length": 301, "protein_name": "XIAP-associated factor 1", "gene_name": "XAF1", "organism": "Human", "refseq_name": "XIAP-associated factor 1 isoform 1", "refseq_ac": [ { "id": "NP_059993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059993", "type": "external" } ], "gene_names_uniprotkb": "XAF1; BIRC4BP; XIAPAF1", "gene_names_refseq": "BIRC4BP; HSXIAPAF1; XAF1; XIAPAF1", "protein_names_uniprotkb": "XIAP-associated factor 1; BIRC4-binding protein", "protein_names_refseq": "BIRC4-binding protein; XIAP-associated factor 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54739); (R-HSA-909733)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10395669;10542297;10982844;11092454;11175744;11237011;11337497;11377645;11404376;11585831;12029096;12766484;12842042;14612497;14769151;15047845;15312780;15449939;15778442;16009940;16171819;16343440;16432762;16987978;17251292;1730654;17329253;17351669;17570219;17613533;17969444;18035202;18575461;20130243;20363976;20643137;2211721;23061660;23121362;23645206;24417533;25371710;27846572;27920218;28063628;28832583;29242379;29632046;29786170;30429286;30485383;32032529;32113509;32157095;32387766;32511913;32574262;32661006;32758689;32862111;32983136;33117408;33189161;33193462;33396578;35051231;35430604;36132546;37217939;38095639;38520543;6162102;6548414;688397;7510216;7526154;7537377;7540766;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "Epigenetic silencing of XAF1 by aberrant promoter methylation may contribute to the malignant progression of human gastric tumors., [RefSeq, PubMed]; IRF9 and XAF1 as Diagnostic Markers of Primary Sjogren Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems to occur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; the process requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity to the proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance of cancer cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]; XAF1 augments TRAIL-induced apoptosis, [RefSeq, PubMed]; XAF1 destabilizes estrogen receptor alpha through the assembly of a BRCA1-mediated destruction complex and promotes estrogen-induced apoptosis., [RefSeq, PubMed]; XAF1 overexpression inhibits the malignant progression and cisplatin resistance of NSCLC by activating endoplasmic reticulum stress. Erratum:[Mol Biol Rep. 2024 May 30;51(1):699. doi: 10.1007/s11033-024-09591-6. PMID: 38814432] Publication Status: Online-Only, [RefSeq, PubMed]; XAF1 promotes colorectal cancer metastasis via VCP-RNF114-JUP axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "A2T931;A2T932;A8K2L1;A8K9Y3;D3DTM6;Q6MZE8;Q8N557;Q99982", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006915 apoptotic process;GO:0035456 response to interferon-beta;GO:0032480 negative regulation of type I interferon production", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q6GPH4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2I9-1", "uniprot_id": [ { "id": "TBC30_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2I9", "type": "external" } ], "mass": 102743.0, "length": 924, "protein_name": "TBC1 domain family member 30", "gene_name": "TBC1D30", "organism": "Human", "refseq_name": "TBC1 domain family member 30 isoform 2", "refseq_ac": [ { "id": "NP_001317115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317115", "type": "external" } ], "gene_names_uniprotkb": "TBC1D30; KIAA0984", "gene_names_refseq": "TBC1D30", "protein_names_uniprotkb": "TBC1 domain family member 30", "protein_names_refseq": "TBC1 domain family member 30 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23329)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;19077034;24715725;26992070;27846572;27920218;28063628;28218747;28832583;28855257;29393594;29557506;29632046;30484775;31092671;31154438;31217245;31844290;32387766;32897882;32983136;33968037;33981976;34087483;35051231", "class_list": "", "function": "May act as a GTPase-activating protein for Rab family protein(s)., [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": 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": "B3KP01;B9A6M9;E7EMW4;F5GYJ9", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0036064 ciliary basal body", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0043547 positive regulation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9Y2I9-1", "record_type": "protein", "filter_code": "0000000.0000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49848-1", "uniprot_id": [ { "id": "TAF6_HUMAN", "url": "https://www.uniprot.org/uniprot/P49848", "type": "external" } ], "mass": 72668.0, "length": 677, "protein_name": "Transcription initiation factor TFIID subunit 6", "gene_name": "TAF6", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 6 isoform epsilon", "refseq_ac": [ { "id": "NP_001177344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177344", "type": "external" } ], "gene_names_uniprotkb": "TAF6; TAF2E; TAFII70", "gene_names_refseq": "ALYUS; MGC:8964; TAF(II)70; TAF(II)80; TAF2E; TAF6; TAFII-70; TAFII-80; TAFII70; TAFII80; TAFII85", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 6; RNA polymerase II TBP-associated factor subunit E; TAF(II)70; TAF(II)80; TAFII-70; TAFII-80; TAFII70; TAFII80; Transcription initiation factor TFIID 70 kDa subunit; Transcription initiation factor TFIID 80 kDa subunit", "protein_names_refseq": "RNA polymerase II TBP-associated factor subunit E; TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD; transcription initiation factor TFIID 70 kDa subunit; transcription initiation factor TFIID subunit 6 isoform epsilon; transcription initiation factor TFIID subunit 6", "tax_id": 9606, "disease": "Alazami-Yuan syndrome (MONDO:MONDO:0014931)", "pathway": " (hsa:6878); (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": 207, "publication_id_list": "10022900;10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11583621;11739720;11740489;11780126;11784853;11856838;11859374;11884399;12064478;12393879;12414730;12574128;12601814;12676794;12702766;12851404;12914926;1310361;14701755;14702041;15053879;15302935;1535687;15489290;15601843;15866171;15960975;16239144;16308568;16322561;16901896;16964243;17108107;17349958;1739980;17591690;18079403;1829677;18490454;18628956;18669648;19121998;1939271;19413330;19664994;19664995;19667075;19690332;19965871;20068231;20096117;20457598;20959462;2125285;21317932;21606357;22137580;22231121;22252320;22441827;23000554;23166507;23186163;23481700;23485397;23676219;23932780;24097444;24129315;24145406;24270878;24275569;24366607;2449431;24714562;24715725;24874608;24997600;25025302;25558065;25574841;25576301;25675981;26992070;27846572;27920218;28218747;28228285;28514659;28657654;28832583;28904123;29237092;29242379;29351928;29358700;29393594;2944599;29485866;29557506;29786170;30059200;30315122;30379171;30429286;30484775;30620550;31217245;31492838;31844290;32030742;32119511;32157095;32357974;32387766;32502341;32574038;32870666;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33795473;33936100;33968037;33981976;34019948;34087483;34171305;34725712;34846842;34932366;35051231;35132862;35254053;35289036;35513511;35561310;35580925;35705054;36010968;36215666;36241641;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40307207;40596516;40914422;7151173;7601352;7660122;7660129;7660130;7667268;7715707;8156590;8253082;8262073;8330735;8339931;8370526;8465201;8490964;8628262;8668525;8946909;9009278;9153304;9188510;9256425;9353262;9405375;9407024;9450929;9489704;9705341;9832505;9925639", "class_list": "", "function": "BIM and NOXA contribute to TAF6delta-dependent cell death. Publication Status: Online-Only, [RefSeq, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]., [RefSeq]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C (PubMed:33795473). TAF6 homodimer connects TFIID modules, forming a rigid core (PubMed:33795473)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The third family with TAF6-related phenotype: Alazami-Yuan syndrome., [RefSeq, PubMed]; Transcriptional regulator which acts primarily as a positive regulator of transcription (PubMed:20096117, PubMed:29358700). Recruited to the promoters of a number of genes including GADD45A and CDKN1A/p21, leading to transcriptional up-regulation and subsequent induction of apoptosis (PubMed:11583621). Also up-regulates expression of other genes including GCNA/ACRC, HES1 and IFFO1 (PubMed:18628956). In contrast, down-regulates transcription of MDM2 (PubMed:11583621). Acts as a transcriptional coactivator to enhance transcription of TP53/p53-responsive genes such as DUSP1 (PubMed:20096117). Can also activate transcription and apoptosis independently of TP53 (PubMed:18628956). Drives apoptosis via the intrinsic apoptotic pathway by up-regulating apoptosis effectors such as BCL2L11/BIM and PMAIP1/NOXA (PubMed:29358700)., [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": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "A4D2B2;A4D2B3;B4DT11;D6W5U2;Q6AI29", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0046982 protein heterodimerization activity;GO:0017162 aryl hydrocarbon receptor 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:0071339 MLL1 complex;GO:0032991 protein-containing 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:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "P49848-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DZ7-1", "uniprot_id": [ { "id": "T4S19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DZ7", "type": "external" } ], "mass": 22433.0, "length": 209, "protein_name": "Transmembrane 4 L6 family member 19", "gene_name": "TM4SF19", "organism": "Human", "refseq_name": "transmembrane 4 L6 family member 19 isoform 3", "refseq_ac": [ { "id": "NP_001191827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191827", "type": "external" } ], "gene_names_uniprotkb": "TM4SF19; OCTM4", "gene_names_refseq": "OCTM4; TM4SF19", "protein_names_uniprotkb": "Transmembrane 4 L6 family member 19; Osteoclast maturation-associated gene 4 protein; Tetraspan membrane protein OCTM4", "protein_names_refseq": "osteoclast maturation-associated gene 4 protein; tetraspan membrane protein OCTM4; transmembrane 4 L6 family member 19 isoform 3; transmembrane 4 L6 family member 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:116211)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;28218747;28904123;29437277;30315122;30410026;32357974;33059922;33298915;33968037;34357683;35051231;35251023;35987447;36215666;36241641;38016540;38315837;38555350", "class_list": "", "function": "Negatively regulates vacuolar (H+)-ATPase (V-ATPase) activity by interacting with members of V-ATPase V0 complex and hence inhibiting V1-V0 complex assembly. Required for multinucleation during osteoclast differentiation., [UniProtKB, UniProtKB]; TM4SF19 aggravates LPS-induced attenuation of vascular endothelial cell adherens junctions by suppressing VE-cadherin expression., [RefSeq, PubMed]; TM4SF19 controls GABP-dependent YAP transcription in head and neck cancer under oxidative stress conditions., [RefSeq, PubMed]; TM4SF19-AS1 facilitates the proliferation of lung squamous cell carcinoma by recruiting WDR5 to mediate TM4SF19., [RefSeq, PubMed]; The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 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": 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": "B2RV20;E9PH22;Q336K7", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0030175 filopodium", "go_biological_process": "GO:0045672 positive regulation of osteoclast differentiation", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96DZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NNX9-1", "uniprot_id": [ { "id": "VCX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NNX9", "type": "external" } ], "mass": 20020.0, "length": 186, "protein_name": "Variable charge X-linked protein 3", "gene_name": "VCX3A", "organism": "Human", "refseq_name": "variable charge X-linked protein 3", "refseq_ac": [ { "id": "NP_057463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057463", "type": "external" } ], "gene_names_uniprotkb": "VCX3A; VCX3; VCX8R; VCXA", "gene_names_refseq": "VCX-8r; VCX-A; VCX3A; VCX3; VCX8R; VCXA", "protein_names_uniprotkb": "Variable charge X-linked protein 3; VCX-8r; VCX-A; Variable charge protein on X with eight repeats; Variably charged protein X-A", "protein_names_refseq": "variable charge X-linked protein 3; variable charge protein on X with eight repeats; variably charged X-A; variably charged protein X-A", "tax_id": 9606, "disease": "", "pathway": " (hsa:51481)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10607842;10903929;11237011;17157254;18076704;19812318", "class_list": "", "function": "May mediate a process in spermatogenesis or may play a role in sex ratio distortion., [UniProtKB, UniProtKB, UniProtKB]; Our data demonstrate that VCX-A can regulate mRNA stability and that it is an example of a tissue-specific decapping regulator., [RefSeq, PubMed]; This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]., [RefSeq]; Two different deletion patterns were observed: the first group included 62 patients with deletion of VCX3A & VCX genes. The second group included 18 patients with breakpoints at several regions on either side of the STS gene not including the VCX3A gene., [RefSeq, PubMed]; We demonstrate that VCX-A can specifically bind a subset of mRNAs involved in neuritogenesis and is also capable of promoting translational silencing., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q9P0H4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9NNX9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1X5-1", "uniprot_id": [ { "id": "TAF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1X5", "type": "external" } ], "mass": 136971.0, "length": 1199, "protein_name": "Transcription initiation factor TFIID subunit 2", "gene_name": "TAF2", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 2 isoform 1", "refseq_ac": [ { "id": "NP_003175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003175", "type": "external" } ], "gene_names_uniprotkb": "TAF2; CIF150; TAF2B", "gene_names_refseq": "CIF150; MRT40; TAF2B; TAF2; TAFII150", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 2; 150 kDa cofactor of initiator function; RNA polymerase II TBP-associated factor subunit B; TAF(II)150; TAFII-150; TAFII150; TBP-associated factor 150 kDa; Transcription initiation factor TFIID 150 kDa subunit", "protein_names_refseq": "150 kDa cofactor of initiator function; RNA polymerase II TBP-associated factor subunit B; TAF(II)150; TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD; TBP-associated factor 150 kDa; cofactor of initiator function, 150kD subunit; transcription initiation factor TFIID 150 kDa subunit; transcription initiation factor TFIID subunit 2 isoform 1; transcription initiation factor TFIID subunit 2", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 40 (Disease Ontology:DOID:0081205)", "pathway": " (hsa:6873); (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;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12393879;12601814;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15866171;16083285;16322561;17108107;17349958;17591690;18490454;18669648;19121998;1939271;19651622;19965871;20068231;20959462;21317932;21937992;22424782;22544926;23000554;23186163;23481700;23485397;23676219;24084144;24145406;24366607;2449431;24715725;24874608;25576301;25645385;25892735;26154972;26768311;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33795473;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34474177;34509645;34634302;34846842;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;7151173;7601352;7660122;7660129;7660130;8156590;8330735;8370526;8465201;8490964;8946909;9256425;9353262;9405375;9418870;9450929;9489704;9774672;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 one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]., [RefSeq]; Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature. Review article, [RefSeq, PubMed]; TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival., [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473, PubMed:9418870, PubMed:9774672). TAF2 forms a promoter DNA binding subcomplex of TFIID, together with TAF7 and TAF1 (PubMed:33795473, PubMed:9774672)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 26, "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": "B2RE82;O43487;O43604;O60668;Q86WW7;Q8IWK4", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0000976 transcription cis-regulatory region 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: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:0000086 G2/M transition of mitotic cell cycle;GO:0045893 positive regulation of DNA-templated transcription;GO:0006367 transcription initiation at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q6P1X5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5K8-1", "uniprot_id": [ { "id": "VATD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5K8", "type": "external" } ], "mass": 28263.0, "length": 247, "protein_name": "V-type proton ATPase subunit D", "gene_name": "ATP6V1D", "organism": "Human", "refseq_name": "V-type proton ATPase subunit D", "refseq_ac": [ { "id": "NP_057078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057078", "type": "external" } ], "gene_names_uniprotkb": "ATP6V1D; ATP6M; VATD", "gene_names_refseq": "ATP6M; ATP6V1D; VATD; VMA8", "protein_names_uniprotkb": "V-type proton ATPase subunit D; V-ATPase 28 kDa accessory protein; V-ATPase subunit D; Vacuolar proton pump subunit D", "protein_names_refseq": "ATPase, H+ transporting lysosomal, member M; ATPase, H+ transporting, lysosomal (vacuolar proton pump); ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D; H(+)-transporting two-sector ATPase, subunit M; V-ATPase 28 kDa accessory protein; V-ATPase D subunit; V-ATPase subunit D; V-type proton ATPase subunit D; vacuolar ATP synthase subunit D; vacuolar H-ATPase subunit D; vacuolar proton pump D subunit; vacuolar proton pump delta polypeptide; vacuolar proton pump subunit D; vacuolar proton-ATPase subunit D", "tax_id": 9606, "disease": "", "pathway": " (hsa:51382); (R-HSA-1222556); (R-HSA-6798695); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)", "pathway_count": 7, "publication_count": 128, "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;18991276;19089323;19321446;20134026;20381137;21124855;21844891;22053050;22087256;22575674;22980980;23650620;23723238;24081491;24095279;24366607;24715725;25259925;25263562;25457612;25561175;25567906;25576301;25645385;25819761;25892735;26154972;26205815;26449471;26586190;26768311;26972053;26992070;27308486;27487210;27600516;27648300;27846572;27920218;28066558;28199306;28199315;2825632;28467828;2848506;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29393594;29557506;29596046;29632046;2986535;30061680;30181260;30337524;30484775;30524438;3061785;30651352;31217245;31844290;32157095;32357974;32488085;32502341;32938616;32983136;33065002;33298915;33691108;33717175;33912179;33968037;33981976;34171305;34932366;35051231;35580925;36010968;36241641;37938771;40914422;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8692836;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. May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, 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 gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B2RE33;Q9Y688", "ec_number_list": [], "go_molecular_function": "GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0033176 proton-transporting V-type ATPase complex;GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0000139 Golgi membrane;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0060271 cilium assembly;GO:0048388 endosomal lumen acidification;GO:0061512 protein localization to cilium;GO:0007042 lysosomal lumen acidification", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q9Y5K8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y343-1", "uniprot_id": [ { "id": "SNX24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y343", "type": "external" } ], "mass": 19818.0, "length": 169, "protein_name": "Sorting nexin-24", "gene_name": "SNX24", "organism": "Human", "refseq_name": "sorting nexin-24", "refseq_ac": [ { "id": "NP_054754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054754", "type": "external" } ], "gene_names_uniprotkb": "SNX24; PRO1284; SBBI31", "gene_names_refseq": "PRO1284; SBBI31; SNX24", "protein_names_uniprotkb": "Sorting nexin-24", "protein_names_refseq": "sorting nexin-24; sorting nexing 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:28966)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12975309;19413330;24714562;25576301;25645385;26375851;28832583;29393594;29508533;29632046;30418433;32502341;32938616;34087483;34171305;35021601;35051231;36284347", "class_list": "", "function": "May be involved in several stages of intracellular trafficking., [UniProtKB]; Sorting nexin 24 is required for alpha-granule biogenesis and cargo delivery in megakaryocytes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UY33", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9Y343-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUF5-1", "uniprot_id": [ { "id": "TBB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUF5", "type": "external" } ], "mass": 49857.0, "length": 446, "protein_name": "Tubulin beta-6 chain", "gene_name": "TUBB6", "organism": "Human", "refseq_name": "tubulin beta-6 chain isoform 2", "refseq_ac": [ { "id": "NP_001290454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290454", "type": "external" } ], "gene_names_uniprotkb": "TUBB6", "gene_names_refseq": "FPVEPD; HsT1601; TUBB-5; TUBB6", "protein_names_uniprotkb": "Tubulin beta-6 chain; Tubulin beta class V", "protein_names_refseq": "class V beta-tubulin; tubulin beta MGC4083; tubulin beta class V; tubulin beta-6 chain isoform 2; tubulin beta-6 chain; tubulin, beta 6", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); congenital facial palsy with ptosis and velopharyngeal dysfunction (Disease Ontology:DOID:0070743); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934)", "pathway": " (hsa:84617); (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": 32, "publication_count": 790, "publication_id_list": "10.1101/2023.09.13.557529;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;11237011;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;16371510;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;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;17525332;17538014;17553904;17574030;17591767;17641202;17760859;17762891;17785525;17804755;17827179;17846173;17855605;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;18691976;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;20191564;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;21136679;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;22869377;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;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;25418920;25436559;25443296;25453831;25468068;25492864;2550440;25645385;25653431;25740311;25789526;25848059;25892735;25957412;26040712;26040713;26073023;26203193;26313416;26375851;26432638;26446704;26488609;26572645;26716879;26758079;26817845;26875866;26929215;26992070;27208315;27269119;27423063;27452731;27462449;27501258;27663436;27920218;27974558;28069888;28083797;28167698;28242692;28281686;28301631;28415052;28510447;28755533;28765891;28834231;28919297;29016863;29146868;29170442;29175459;29231267;29242379;29348664;29393594;29394925;29395325;29440070;29501855;29508533;29557506;29762666;29786170;30174290;30197098;30360396;30410026;30513301;30590034;30761409;30770398;31031002;31110491;31141847;31154438;31217245;3130248;3134048;31409757;31731497;31826031;31844290;32016915;32093270;32157095;32265273;32265295;32320027;32350084;32387766;32448030;32544881;32716602;32801355;32938616;32982970;33141586;33214551;33633747;33717175;33808629;33911136;33968037;34019948;34174402;34260926;34357683;34725712;34974812;35051231;35138101;35318648;35580925;35685460;35947956;36010968;36054443;36241641;36712380;37127961;37217939;38665916;40914422;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;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": "Methylation in the beta-tubulin TUBB6 correlated with the presence of dysplasia and accurately discriminated between dysplasia and nondysplastic tissue, even in the apparently normal field mucosa downstream from dysplastic lesions. Methylation in TUBB6 is a potential biomarker for Ulcerative colitis (UC) - associated dysplasia., [RefSeq, PubMed]; Primary myeloid cell proteomics and transcriptomics: importance of beta-tubulin isotypes for osteoclast function. Publication Status: Online-Only, [RefSeq, PubMed]; Quantitative proteomics identifies TUBB6 as a biomarker of muscle-invasion and poor prognosis in bladder cancer., [RefSeq, PubMed]; The TUBB6 expression was largely decreased in most tumors., [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, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KM76;Q9HA42", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0070062 extracellular exosome;GO:0045171 intercellular bridge", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 79.5, "record_id": "Q9BUF5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8Y2-1", "uniprot_id": [ { "id": "VA0D2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8Y2", "type": "external" } ], "mass": 40426.0, "length": 350, "protein_name": "V-type proton ATPase subunit d 2", "gene_name": "ATP6V0D2", "organism": "Human", "refseq_name": "V-type proton ATPase subunit d 2", "refseq_ac": [ { "id": "NP_689778", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689778", "type": "external" } ], "gene_names_uniprotkb": "ATP6V0D2", "gene_names_refseq": "ATP6D2; ATP6V0D2; VMA6", "protein_names_uniprotkb": "V-type proton ATPase subunit d 2; V-ATPase subunit d 2; Vacuolar proton pump subunit d 2", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2; V-ATPase subunit d 2; V-type proton ATPase subunit d 2; vacuolar proton pump subunit d 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:245972); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)", "pathway_count": 6, "publication_count": 106, "publication_id_list": "10029572;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12384298;12531241;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16793765;17051221;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;20134026;20381137;21124855;22053050;22087256;22575674;22980980;23723238;24081491;24095279;24715725;25259925;25263562;25457612;25561175;25567906;25819761;26154972;26205815;26449471;26586190;26972053;27308486;27487210;27648300;28066558;28199306;28199315;2825632;2848506;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29393594;29557506;29596046;29632046;2986535;30061680;30066839;30181260;30315122;30337524;30431439;3061785;30651352;32157095;32240421;32265295;32488085;32938616;33298915;33592498;33936100;33968037;34087483;34211107;34509645;35051231;35154160;38348842;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760", "class_list": "", "function": "ATP6V0D2, a subunit associated with proton transport, serves an oncogenic role in esophagus cancer and is correlated with epithelial-mesenchymal transition., [RefSeq, PubMed]; Gammadelta T cells suppressed iDCs osteoclastogenesis by downregulation of the RANK/cFos/ATP6V0D2 signaling pathway., [RefSeq, PubMed]; Lactate inhibits ATP6V0d2 expression in tumor-associated macrophages to promote HIF-2alpha-mediated tumor progression., [RefSeq, PubMed]; Reticulophagy mediated by the V-ATPase-ATG16L1-LC3C axis., [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 (By similarity). May play a role in coupling of proton transport and ATP hydrolysis (By similarity). Regulator of osteoclast fusion and bone formation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0005769 early endosome;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0007034 vacuolar transport;GO:0016241 regulation of macroautophagy;GO:0007035 vacuolar acidification", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q8N8Y2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J1W7-1", "uniprot_id": [ { "id": "NPIA9_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J1W7", "type": "external" } ], "mass": 42104.0, "length": 369, "protein_name": "Nuclear pore complex-interacting protein family member A9", "gene_name": "NPIPA6; NPIPA9", "organism": "Human", "refseq_name": "nuclear pore complex-interacting protein family member A9 isoform 1", "refseq_ac": [ { "id": "NP_001388639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001388639", "type": "external" } ], "gene_names_uniprotkb": "NPIPA6; NPIPA9", "gene_names_refseq": "NPIPA9", "protein_names_uniprotkb": "Nuclear pore complex-interacting protein family member A9", "protein_names_refseq": "NPIP-like protein 1; nuclear pore complex interacting protein family member A5 pseudogene; nuclear pore complex-interacting protein family member A9 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:105376752)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;39531497", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A0B4J1W7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MV65-1", "uniprot_id": [ { "id": "VGLL3_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MV65", "type": "external" } ], "mass": 36009.0, "length": 326, "protein_name": "Transcription cofactor vestigial-like protein 3", "gene_name": "VGLL3", "organism": "Human", "refseq_name": "transcription cofactor vestigial-like protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001307422", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307422", "type": "external" } ], "gene_names_uniprotkb": "VGLL3", "gene_names_refseq": "VGL-3; VGL3; VGLL3", "protein_names_uniprotkb": "Transcription cofactor vestigial-like protein 3; Vgl-3", "protein_names_refseq": "colon carcinoma related protein; transcription cofactor vestigial-like protein 3 isoform 2; transcription cofactor vestigial-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:389136)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12376544;20842732;25576301;30379171;32938616;33592498;34019948;35434822;35766997;35941675;36754961;38348744", "class_list": "", "function": "Data suggest that the amplification and overexpression of YAP1 and VGLL3 could be involved in oncogenesis and progression of soft tissue sarcomas, [RefSeq, PubMed]; Exploring the potential of VGLL3 methylation as a prognostic indicator for intracranial aneurysm with gender-specific considerations., [RefSeq, PubMed]; May act as a specific coactivator for the mammalian TEFs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Recurrent VGLL3 fusions define a distinctive subset of spindle cell rhabdomyosarcoma with an indolent clinical course and striking predilection for the head and neck., [RefSeq, PubMed]; Regulation of type I interferon signature by VGLL3 in the fibroblast-like synoviocytes of rheumatoid arthritis patients via targeting the Hippo pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This protein was named Vestigial-like 3, because it is related to the Drosophila protein Vestigial. Like other members of this family, it contains a consensus TEF-1 and MEF2(TDU)interaction domain., [RefSeq, PubMed]; VGLL3 increases the dependency of cancer cells on de novo nucleotide synthesis through GART expression., [RefSeq, PubMed]; VGLL3 is a mechanosensitive protein that promotes cardiac fibrosis through liquid-liquid phase separation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DU37;Q504T7", "ec_number_list": [], "go_molecular_function": "", "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": 1.6, "record_id": "A8MV65-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TJ2-1", "uniprot_id": [ { "id": "TAD2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TJ2", "type": "external" } ], "mass": 48470.0, "length": 420, "protein_name": "Transcriptional adapter 2-beta", "gene_name": "TADA2B", "organism": "Human", "refseq_name": "transcriptional adapter 2-beta", "refseq_ac": [ { "id": "NP_689506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689506", "type": "external" } ], "gene_names_uniprotkb": "TADA2B; ADA2B", "gene_names_refseq": "ADA2(beta); ADA2B; TADA2B", "protein_names_uniprotkb": "Transcriptional adapter 2-beta; ADA2-beta; ADA2-like protein beta", "protein_names_refseq": "ADA2-beta; ADA2-like protein beta; transcriptional adapter 2-beta; transcriptional adaptor 2 (ADA2 homolog, yeast)-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:93624); (R-HSA-3214847); (R-HSA-5689880)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10444327;10786633;10821277;10982817;11237011;11566882;11923872;12917689;12917691;12972612;14661020;15053880;15313887;15916963;16214042;16387653;16901786;16964248;17290220;17443180;17694077;17873522;17980597;17981138;18172164;18381289;18467330;18623064;18632802;18636086;18936164;19015242;19135894;19187765;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20018852;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24896179;25197364;25305019;25578727;28832583;29769354;30833945;31530632;31844290;31848261;32157095;32488085;33298915;33592498;33968037;34171305;35051231;35494241;35580925;36010968;7578059;9427644;9558366;9880483", "class_list": "", "function": "ADA2a and ADA2b, two human homologues of yeast Ada2, each have the ability to form a heterotrimer with ADA3 and GCN5L but that only the ADA2b homologue is found in STAGA., [RefSeq, PubMed]; Coactivates PAX5-dependent transcription together with either SMARCA4 or GCN5L2., [UniProtKB, PubMed]; TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A0AUJ8;A4QMR7;B3KSN0;B3KU86;Q6MZG9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0070461 SAGA-type complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000124 SAGA complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q86TJ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ49-1", "uniprot_id": [ { "id": "SMIM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ49", "type": "external" } ], "mass": 8631.0, "length": 75, "protein_name": "Small integral membrane protein 7", "gene_name": "SMIM7", "organism": "Human", "refseq_name": "small integral membrane protein 7 isoform 2 precursor", "refseq_ac": [ { "id": "NP_077009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077009", "type": "external" } ], "gene_names_uniprotkb": "SMIM7; C19orf42", "gene_names_refseq": "C19orf42; SMIM7", "protein_names_uniprotkb": "Small integral membrane protein 7", "protein_names_refseq": "UPF0608 protein C19orf42; small integral membrane protein 7 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:79086)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;26992070;28228285;28834231;31154438;31530632;31611695;31844290;31848261;32157095;34357683;35154160", "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": "A8MX44", "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": "Q9BQ49-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99747-1", "uniprot_id": [ { "id": "SNAG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99747", "type": "external" } ], "mass": 34746.0, "length": 312, "protein_name": "Gamma-soluble NSF attachment protein", "gene_name": "NAPG", "organism": "Human", "refseq_name": "gamma-soluble NSF attachment protein", "refseq_ac": [ { "id": "NP_003817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003817", "type": "external" } ], "gene_names_uniprotkb": "NAPG; SNAPG", "gene_names_refseq": "GAMMASNAP; NAPG", "protein_names_uniprotkb": "Gamma-soluble NSF attachment protein; N-ethylmaleimide-sensitive factor attachment protein gamma; SNAP-gamma", "protein_names_refseq": "N-ethylmaleimide-sensitive factor attachment protein, gamma; SNAP-gamma; gamma-soluble NSF attachment protein; soluble NSF attachment protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8774); (R-HSA-204005); (R-HSA-6807878); (R-HSA-6811434); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 6, "publication_count": 288, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10747087;10761932;10788476;10825291;10865125;10903204;10921873;10982397;10990452;11035026;11035033;11172815;11237011;11278501;11285137;11303027;11306556;11346801;11359012;11461920;11493604;11689439;11689559;11703931;11718716;11726511;11739780;11748249;11827983;11839770;11927603;12011112;12047556;12070132;12235121;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14504276;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15272311;15483056;15504911;15592455;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;16303754;1631136;16495487;16571679;16624868;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17005010;17038314;17113389;17192411;17253781;17274799;17287728;17316621;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18287528;18367545;18451304;18524849;18664496;18669648;18809720;18843296;18946081;1898986;19015319;19109418;19151722;19164740;19296914;19328558;19369418;19429185;19490898;19536132;1957170;19615748;19620288;19631211;19638414;19656848;19715559;19758564;20005805;20136777;20163571;20357002;20427317;20462495;20534429;20545907;20637885;20679433;20685960;20874812;20966969;21183348;21219331;21421921;21436057;21478858;21532587;21550981;21689688;21807881;21844168;22013193;22094269;22113424;22157747;22188167;22304919;22335553;22354037;22581368;22675024;22717455;23091056;23239882;23301498;23378023;23378591;23396477;23437303;23462996;23479643;23698585;23839779;23864707;23936529;23940353;24119662;24794632;24806965;24917561;25202031;25343031;25364732;25406594;25436559;25492864;25586378;25619252;25708460;25880248;26154972;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29485866;29557506;29632046;30315122;30410026;30779550;31844290;31998317;32157095;32265295;32350084;32357974;32387766;32938616;32983136;33592498;33717175;33912179;33968037;33981976;34019948;34112136;34357683;34433824;34509645;35051231;35154160;35251023;36010968;7691276;7844144;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8663406;8670882;8945478;8991093;9050864;9094723;9114004;9150144;9177194;9230071;9244307;9269766;9288971;9307973;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9647643;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "", "function": "NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our study supports NAPG as a candidate for susceptibility to bipolar disorder as several combinations of haplotype were found to be associated with bipolar disorder. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus., [UniProtKB]; Study did not support NAPG as a susceptible gene for schizophrenia in the Chinese Han population, [RefSeq, PubMed]; This gene encodes soluble NSF attachment protein gamma. The soluble NSF attachment proteins (SNAPs) enable N-ethyl-maleimide-sensitive fusion protein (NSF) to bind to target membranes. NSF and SNAPs appear to be general components of the intracellular membrane fusion apparatus, and their action at specific sites of fusion must be controlled by SNAP receptors particular to the membranes being fused. The product of this gene mediates platelet exocytosis and controls the membrane fusion events of this process.[provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFC9;Q9BUV1", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding;GO:0005483 soluble NSF attachment protein activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0050821 protein stabilization;GO:0061025 membrane fusion;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 29.1, "record_id": "Q99747-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRL6-1", "uniprot_id": [ { "id": "SRSF8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRL6", "type": "external" } ], "mass": 32288.0, "length": 282, "protein_name": "Serine/arginine-rich splicing factor 8", "gene_name": "SRSF8", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 8", "refseq_ac": [ { "id": "NP_115285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115285", "type": "external" } ], "gene_names_uniprotkb": "SRSF8; SFRS2B; SRP46", "gene_names_refseq": "DSM-1; SFRS2B; SRP46; SRSF8", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 8; Pre-mRNA-splicing factor SRP46; Splicing factor SRp46; Splicing factor, arginine/serine-rich 2B", "protein_names_refseq": "SR splicing factor 8; pre-mRNA-splicing factor SRP46; serine/arginine-rich splicing factor 8; splicing factor, arginine/serine-rich 2B; splicing factor, arginine/serine-rich, 46kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:10929); (R-HSA-72163); (R-HSA-72203); (R-HSA-9770562)", "pathway_count": 4, "publication_count": 150, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11466336;11991638;12042320;12176931;12411573;12414731;12477934;14625303;14713954;14749727;15037765;15104674;15565158;16314458;16809785;17081983;17095540;17128255;17332742;17606899;18288197;18322460;18593880;18669648;18767875;19103666;19165350;19217410;19536130;19651622;20068231;20112406;20423332;20695905;20980672;21295486;21536652;2176635;22110043;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23874216;24076191;24149845;24196718;24304693;24316715;24407421;24448447;24737827;24914973;24981863;25301780;25301781;25418920;25555158;25576301;2558966;26385511;26420826;26811146;26929215;26969736;26992070;27377154;27397612;27459055;27683217;27920218;28062851;28063628;28076346;28096519;28218747;28502770;28781166;28911096;29186539;29274231;29301961;29360106;29361316;29393594;29437277;29493099;29557506;29632046;2963332;29786170;30139799;30257008;30315277;30379171;30429286;30705154;30728453;30765414;30975767;31154438;31409651;31530632;31844290;31998317;32161166;32179686;32265295;32329775;32387766;32488085;32494006;32816001;32983136;33243851;33298915;33446560;33912179;34301950;34822310;35051231;35177536;35385551;35580925;3757028;37938771;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9659921;9671485;9671500;9701291;9731529", "class_list": "", "function": "Involved in pre-mRNA alternative splicing., [UniProtKB, PubMed]; This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "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": "B2R6B8;Q6PF01;Q96TA3", "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:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9BRL6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZZ2-1", "uniprot_id": [ { "id": "SN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZZ2", "type": "external" } ], "mass": 182624.0, "length": 1709, "protein_name": "Sialoadhesin", "gene_name": "SIGLEC1", "organism": "Human", "refseq_name": "sialoadhesin isoform 1 precursor", "refseq_ac": [ { "id": "NP_075556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075556", "type": "external" } ], "gene_names_uniprotkb": "SIGLEC1; SN", "gene_names_refseq": "CD169; SIGLEC-1; SIGLEC1; SN", "protein_names_uniprotkb": "Sialoadhesin; Sialic acid-binding Ig-like lectin 1; Siglec-1", "protein_names_refseq": "sialic acid binding Ig-like lectin 1, sialoadhesin; sialic acid-binding immunoglobulin-like lectin 1; sialoadhesin isoform 1 precursor; sialoadhesin", "tax_id": 9606, "disease": "", "pathway": " (hsa:6614); (R-HSA-198933)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "37268159;10406848;10499918;10610356;10746781;11133773;11214971;11237011;11265639;11489943;11513152;11556966;11780052;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12940982;14702039;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;26284469;26300885;26358190;26509874;27397612;27726376;28129379;29093164;29557506;29789417;30429286;31154438;31160823;31848261;32157095;32387766;32983136;33123756;33206973;33489013;33491921;33547747;33912179;33968037;33986412;34171305;34185709;34464958;34509645;34782760;35051231;35580925;35695299;36279285;36284347;36738392;37061149;37074911;37938771;38349399;7531291;7542404;8178173;8530048;8995416;9285412;9314561;9700512;9730896", "class_list": "glycogene", "function": "(Microbial infection) Facilitates viral cytoplasmic entry into activated dendritic cells via recognition of sialylated gangliosides pesent on viral membrane., [UniProtKB, PubMed]; A novel subpopulation of monocytes with a strong interferon signature indicated by SIGLEC-1 is present in patients with in recent-onset type 1 diabetes., [RefSeq, PubMed]; CD169 expression on monocytes as a marker for assessing type I interferon status in pediatric inflammatory diseases., [RefSeq, PubMed]; CD169-mediated restrictive SARS-CoV-2 infection of macrophages induces pro-inflammatory responses. Publication Status: Online-Only, [RefSeq, PubMed]; Macrophage-restricted adhesion molecule that mediates sialic-acid dependent binding to lymphocytes, including granulocytes, monocytes, natural killer cells, B-cells and CD8 T-cells. Plays a crucial role in limiting bacterial dissemination by engaging sialylated bacteria to promote effective phagocytosis and antigen presentation for the adaptive immune response (PubMed:12940982, PubMed:33489013). Mediates the uptake of various enveloped viruses via sialic acid recognition and subsequently induces the formation of intracellular compartments filled with virions (VCCs) (PubMed:28129379). In turn, enhances macrophage-to-T-cell transmission of several viruses including HIV-1 or SARS-CoV-2 (PubMed:28129379, PubMed:34782760). Acts as an endocytic receptor mediating clathrin dependent endocytosis. Preferentially binds to alpha-2,3-linked sialic acid (PubMed:12940982). Binds to SPN/CD43 on T-cells (By similarity). May play a role in hemopoiesis. Plays a role in the inhibition of antiviral innate immune by promoting TBK1 degradation via TYROBP and TRIM27-mediated ubiquitination (PubMed:26358190)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Sialoadhesin (CD169/Siglec-1) is an extended molecule that escapes inhibitory cis-interactions and synergizes with other macrophage receptors to promote phagocytosis., [RefSeq, PubMed]; The role of activated monocyte IFN/SIGLEC1 signalling in Graves' disease. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a lectin-like adhesion molecule that binds glycoconjugate ligands on cell surfaces in a sialic acid-dependent manner. It is a type I transmembrane protein expressed only by a subpopulation of macrophages and is involved in mediating cell-cell interactions. The protein plays an important role in multiple human diseases and bacterial and viral infections has been shown to enhance SARS-CoV-2 infection. [provided by RefSeq, Dec 2021]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 9, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2415, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "diagnostic; prognostic", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q96DL4;Q9GZS5;Q9H1H6;Q9H1H7;Q9H7L7", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0046790 virion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005770 late endosome", "go_biological_process": "GO:0006954 inflammatory response;GO:0007160 cell-matrix adhesion;GO:0098609 cell-cell adhesion;GO:0032480 negative regulation of type I interferon production;GO:0075512 clathrin-dependent endocytosis of virus by host cell", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9BZZ2-1", "record_type": "protein", "filter_code": "1001000.1100101.010000.000000000001000000.1000000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2Y9-1", "uniprot_id": [ { "id": "SO5A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2Y9", "type": "external" } ], "mass": 91864.0, "length": 848, "protein_name": "Solute carrier organic anion transporter family member 5A1", "gene_name": "SLCO5A1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 5A1 isoform 2", "refseq_ac": [ { "id": "NP_001139480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139480", "type": "external" } ], "gene_names_uniprotkb": "SLCO5A1; OATP5A1; SLC21A15", "gene_names_refseq": "OATP-J; OATP-RP4; OATP5A1; OATPJ; OATPRP4; SLC21A15; SLCO5A1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 5A1; OATP-RP4; OATPRP4; Organic anion transporter polypeptide-related protein 4; Solute carrier family 21 member 15", "protein_names_refseq": "organic anion transporter polypeptide-related protein 4; solute carrier family 21 (organic anion transporter), member 15; solute carrier family 21 member 15; solute carrier organic anion transporter family member 5A1 isoform 2", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:81796)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18452278;20602915;21278488;24376674;25301452;25502872;26154972;28228285;28832583;29242379;29557506;30315122;31844290;32157095;33141586;33619025;34357683;35051231;35580925", "class_list": "", "function": "Differential Associations of SLCO Transporters with Prostate Cancer Aggressiveness between African Americans and European Americans., [RefSeq, PubMed]; Haploinsufficiency of SULF1 combined with haploinsufficiency of SLCO5A1 (or the altered expression of a neighboring gene through position effect) could be necessary in the pathogenesis of MSS., [RefSeq, PubMed]; High OATP5A1 expression is associated with small cell lung cancer., [RefSeq, PubMed]; SLCO5A1 is an organic anion transporting polypeptide which is involved in biological processes that require the reorganization of the cell shape, such as differentiation and migration. Publication Status: Online-Only, [RefSeq, PubMed]; Tissue-specific localization of OATP2B1, OATP3A1 and OATP5A1 has been analyzed in normal mammary tissue and corresponding breast cancer tissues., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A4QPC2;B2RPF7;B3KMU7;E9PKK5;G3V1C0", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0043252 sodium-independent organic anion transport;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9H2Y9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3E2-1", "uniprot_id": [ { "id": "SNX25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3E2", "type": "external" } ], "mass": 97945.0, "length": 840, "protein_name": "Sorting nexin-25", "gene_name": "SNX25", "organism": "Human", "refseq_name": "sorting nexin-25 isoform 6", "refseq_ac": [ { "id": "NP_001304710", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304710", "type": "external" } ], "gene_names_uniprotkb": "SNX25; MSTP043", "gene_names_refseq": "LRP2BP-AS1; MSTP043; SBBI31; SNX25", "protein_names_uniprotkb": "Sorting nexin-25", "protein_names_refseq": "LRP2BP antisense RNA 1; RP11-714G18.1; sorting nexin-25 isoform 6", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 20 (Disease Ontology:DOID:0080066)", "pathway": " (hsa:83891)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;14975938;17081983;21266196;23518199;24714562;25418920;26214276;26728094;26992070;27846572;27920218;28063628;28228285;28649982;28832583;28834231;28904123;29363163;29393594;29632711;29769354;30315122;30410026;30429286;31844290;32157095;32350084;32357974;32502341;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34357683;34561969;35051231;35580925;36241641;37217939", "class_list": "", "function": "May be involved in several stages of intracellular trafficking., [UniProtKB]; RP11-714G18.1 may play an athero-protective role by inhibiting vascular cell migration via RP11-714G18.1/LRP2BP/MMP1 signaling pathway., [RefSeq, PubMed]; SNX25 negatively regulates TGF-beta signaling by enhancing the receptor degradation through lysosome pathway., [RefSeq, PubMed]; This study confirmed that SNX25 as genetic modifiers of age at onset of Alzheimer disease., [RefSeq, PubMed]; Upregulation of SNX25 might be involved in the development of temporal lobe epilepsy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q3ZT30;Q8N6K3", "ec_number_list": [], "go_molecular_function": "GO:0035091 phosphatidylinositol binding;GO:0034713 type I transforming growth factor beta receptor binding", "go_cellular_component": "GO:0005768 endosome;GO:0010008 endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0032801 receptor catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9H3E2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9C1-1", "uniprot_id": [ { "id": "SPE39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9C1", "type": "external" } ], "mass": 57005.0, "length": 493, "protein_name": "Spermatogenesis-defective protein 39 homolog", "gene_name": "VIPAS39", "organism": "Human", "refseq_name": "spermatogenesis-defective protein 39 homolog isoform 1", "refseq_ac": [ { "id": "NP_001180243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180243", "type": "external" } ], "gene_names_uniprotkb": "VIPAS39; C14orf133; SPE39; VIPAR", "gene_names_refseq": "C14orf133; SPE-39; SPE39; VIPAR; VIPAS39; VPS16B; hSPE-39", "protein_names_uniprotkb": "Spermatogenesis-defective protein 39 homolog; VPS33B-interacting protein in apical-basolateral polarity regulator; VPS33B-interacting protein in polarity and apical restriction; hSPE-39", "protein_names_refseq": "VPS33B-interacting protein involved in polarity and apical protein restriction; spermatogenesis-defective protein 39 homolog isoform 1; spermatogenesis-defective protein 39 homolog", "tax_id": 9606, "disease": "ARC syndrome (Disease Ontology:DOID:0050763); arthrogryposis, renal dysfunction, and cholestasis 2 (Disease Ontology:DOID:0111354)", "pathway": " (hsa:63894)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;15345747;15592455;18669648;19109425;19664994;19690332;19901323;20166139;20190753;21350494;22753090;23186163;23901104;23918659;24275569;24714562;25892735;26992070;28017832;28904123;29493099;29557506;30379171;31479177;31501156;31844290;31988382;32157095;32387766;32938616;33592498;33912179;35051231;35318648;35561310;35580925;36284347;37062417;37217939;37938771;38253038;40596516", "class_list": "", "function": "Mechanism of platelet alpha-granule biogenesis: study of cargo transport and the VPS33B-VPS16B complex in a model system., [RefSeq, PubMed]; Proposed to be involved in endosomal maturation implicating in part VPS33B. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical RAB11A-dependent recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). May play a role in lysosomal trafficking, probably via association with the core HOPS complex in a discrete population of endosomes; the functions seems to be independent of VPS33B (PubMed:19109425). May play a role in vesicular trafficking during spermatogenesis (By similarity). May be involved in direct or indirect transcriptional regulation of E-cadherin (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; SPE-39 homologues are present in RAB5-, RAB7-, and RAB11-positive endosomes where they play a conserved role in lysosomal delivery and probably function via their interaction with the core HOPS complex., [RefSeq, PubMed]; The Rab-binding module of FERARI (factors for endosome recycling and Rab interactions) consists of Rab11FIP5 and rabenosyn-5, while the SNARE-interacting module comprises VPS45 and VIPAS39., [RefSeq, PubMed]; The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "B4DPI6;O95434;Q9H7E1;Q9H9I9", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0055037 recycling endosome", "go_biological_process": "GO:0007034 vacuolar transport;GO:0006351 DNA-templated transcription;GO:0006886 intracellular protein transport;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9H9C1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX45-1", "uniprot_id": [ { "id": "SOLH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX45", "type": "external" } ], "mass": 46941.0, "length": 425, "protein_name": "Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2", "gene_name": "SOHLH2", "organism": "Human", "refseq_name": "CCDC169-SOHLH2 protein", "refseq_ac": [ { "id": "NP_001185839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185839", "type": "external" } ], "gene_names_uniprotkb": "SOHLH2; TEB1", "gene_names_refseq": "C13orf38-SOHLH2; CCDC169-SOHLH2", "protein_names_uniprotkb": "Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2", "protein_names_refseq": "C13orf38-SOHLH2 readthrough; CCDC169-SOHLH2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100526761); (hsa:54937)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "25892735;26154972;26768311;26791533;29557506;29769354;33141586;33592498;34211107;35051231;36215666", "class_list": "", "function": "This locus represents naturally occurring read-through transcription between the neighboring C13orf38 (chromosome 13 open reading frame 38) and SOHLH2 (spermatogenesis and oogenesis specific basic helix-loop-helix 2) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Nov 2010]., [RefSeq]; Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 9737, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DX90;Q5EGC3;Q8TC74;Q96QX4", "ec_number_list": [], "go_molecular_function": "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0009994 oocyte differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9NX45-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY99-1", "uniprot_id": [ { "id": "SNTG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY99", "type": "external" } ], "mass": 60217.0, "length": 539, "protein_name": "Gamma-2-syntrophin", "gene_name": "SNTG2", "organism": "Human", "refseq_name": "gamma-2-syntrophin", "refseq_ac": [ { "id": "NP_061841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061841", "type": "external" } ], "gene_names_uniprotkb": "SNTG2", "gene_names_refseq": "G2SYN; SNTG2; SYN5", "protein_names_uniprotkb": "Gamma-2-syntrophin; G2SYN; SYN5; Syntrophin-5", "protein_names_refseq": "gamma-2-syntrophin; syntrophin-5", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:54221); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10022829;10189375;10441321;10545507;10747910;10893187;10932245;10942431;11237011;11352924;11430802;11495720;12189167;12429735;1319059;15175026;16524571;17292328;17905726;18764929;19346169;19946898;20044576;22159078;22223806;23061379;28832583;29242379;29351928;32387766;32602654;3282674;34211107;35051231;35494241;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9405466;9412493;9652404;9864373", "class_list": "", "function": "A de novo binding partner of X-linked neuroligin 4 and neuroligin 3, which correlates with autism-related mutations., [RefSeq, PubMed]; Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity)., [UniProtKB]; MYT1L and the SNTG2 genes within the reported region could probably relate to the phenotypic discordance of the monozygotic twins., [RefSeq, PubMed]; Overexpression of SNTG2, TRAF3IP2, and ITGA6 transcripts is associated with osteoporotic vertebral fracture in elderly women from community., [RefSeq, PubMed]; Role in regulating SCN5A gating by a PDZ domain-mediated interaction, [RefSeq, PubMed]; This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "Q05AH5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005198 structural molecule activity;GO:0030165 PDZ domain binding;GO:0097109 neuroligin family protein binding", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0042383 sarcolemma;GO:0016013 syntrophin complex", "go_biological_process": "GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9NY99-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIG8-1", "uniprot_id": [ { "id": "SO3A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIG8", "type": "external" } ], "mass": 76553.0, "length": 710, "protein_name": "Solute carrier organic anion transporter family member 3A1", "gene_name": "SLCO3A1", "organism": "Human", "refseq_name": "solute carrier organic anion transporter family member 3A1 isoform 2", "refseq_ac": [ { "id": "NP_001138516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138516", "type": "external" } ], "gene_names_uniprotkb": "SLCO3A1; OATP3A1; OATPD; SLC21A11", "gene_names_refseq": "OATP-D; OATP-RP3; OATP3A1; OATPD; OATPRP3; SLC21A11; SLCO3A1", "protein_names_uniprotkb": "Solute carrier organic anion transporter family member 3A1; OATP-D; OATP-RP3; OATP3A1; OATPRP3; Organic anion transporter polypeptide-related protein 3; Organic anion-transporting polypeptide D; PGE1 transporter; Sodium-independent organic anion transporter D; Solute carrier family 21 member 11", "protein_names_refseq": "PGE1 transporter; organic anion transporter polypeptide-related protein 3; organic anion-transporting polypeptide D; sodium-independent organic anion transporter D; solute carrier family 21 (organic anion transporter), member 11; solute carrier family 21 member 11; solute carrier organic anion transporter family member 3A1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:28232)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;10873595;11237011;12409283;14631946;16971491;19129463;24190977;25576301;25732826;28218747;28514659;28832583;29242379;29493099;29557506;29786170;30063921;30429286;31154438;31844290;31848261;32157095;32387766;32938616;32983136;33592498;34971708;35051231;35307651;35580925;36010968;36120371;37938771;39206635", "class_list": "", "function": "Mediates transport of steroid hormone precursors dehydroepiandrosterone 3-sulfate and estrone 3-sulfate., [UniProtKB, PubMed]; OATP-D plays an important role in translocating prostaglandins in specialized tissues and cells., [RefSeq, PubMed]; Putative organic anion antiporter with apparent broad substrate specificity. Recognizes various substrates including thyroid hormone L-thyroxine, prostanoids such as prostaglandin E1 and E2, bile acids such as taurocholate, glycolate and glycochenodeoxycholate and peptide hormones such as L-arginine vasopressin, likely operating in a tissue-specific manner (PubMed:10873595, PubMed:14631946, PubMed:16971491, PubMed:19129463, PubMed:30063921). The transport mechanism, its electrogenicity and potential tissue-specific counterions remain to be elucidated (Probable). Mediates transport of tryptophan, phenyalanine and tyrosine (PubMed:39206635)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tumor necrosis factor alpha upregulates the bile acid efflux transporter OATP3A1 via multiple signaling pathways in cholestasis., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 38, "reported_interactions": 0, "missing_score": 9704, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K4A7;B3KPY5;B3KUR7;C6G486;Q9BW73;Q9GZV2", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" } ], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015291 secondary active transmembrane transporter activity;GO:0015132 prostaglandin transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0009925 basal plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0043410 positive regulation of MAPK cascade;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0015711 organic anion transport;GO:0015827 tryptophan transport", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9UIG8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNL2-1", "uniprot_id": [ { "id": "SSRG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNL2", "type": "external" } ], "mass": 21080.0, "length": 185, "protein_name": "Translocon-associated protein subunit gamma", "gene_name": "SSR3", "organism": "Human", "refseq_name": "translocon-associated protein subunit gamma isoform 1", "refseq_ac": [ { "id": "NP_001295126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295126", "type": "external" } ], "gene_names_uniprotkb": "SSR3; TRAPG", "gene_names_refseq": "SSR3; TRAPG", "protein_names_uniprotkb": "Translocon-associated protein subunit gamma; SSR-gamma; Signal sequence receptor subunit gamma; TRAP-gamma", "protein_names_refseq": "SSR gamma; TRAP-complex gamma subunit; TRAP-gamma; signal sequence receptor subunit gamma; signal sequence receptor, gamma (translocon-associated protein gamma); translocon-associated protein gamma subunit; translocon-associated protein subunit gamma isoform 1; translocon-associated protein subunit gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:6747); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "11237011;11964406;12853463;16469117;17081983;17697703;18166647;18455985;18669648;18691976;18707149;19651622;20058876;20068231;20166139;20444697;23186163;23481700;23660295;24275569;24714562;24715725;25576301;25732826;25892735;26154972;26992070;27452731;27600516;27846572;27920218;28218252;28218747;28228285;28510447;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29437277;29557506;29632711;29769354;29786170;29940286;30315122;30524438;30833945;30945312;31092671;31154438;31217245;31530632;31844290;32157095;32161166;32332102;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34509645;34857543;34932366;35051231;35083852;35552677;35580925;36010968;36241641;36284347;36697828;37217939;37652395;9631292", "class_list": "", "function": "Data suggest that the mutation leads to complete absence of TRAP gamma (SSR3). Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation., [RefSeq, PubMed]; SSR3 acts as an oncogene in hepatocellular carcinoma with overexpression predicting poor survival., [RefSeq, PubMed]; Signal sequence receptor subunit 3: A novel indicator of immunosuppressive tumor microenvironment and clinical benefits from immunotherapy., [RefSeq, PubMed]; TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TRAPgamma-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms., [RefSeq, PubMed]; The Role of TRAPgamma/SSR3 in Preproinsulin Translocation Into the Endoplasmic Reticulum., [RefSeq, PubMed]; The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]., [RefSeq]; Translocon-associated Protein Subunit SSR3 Determines and Predicts Susceptibility to Paclitaxel in Breast Cancer and Glioblastoma., [RefSeq, PubMed]; Translocon-associated protein subunit gamma (TRAPgamma) was identified as a novel TR3 binding partner., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7D0;B4E2P2;D3DNK5;Q549M4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006614 SRP-dependent cotranslational protein targeting to membrane;GO:0031204 post-translational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9UNL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5W7-1", "uniprot_id": [ { "id": "SNX14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5W7", "type": "external" } ], "mass": 110182.0, "length": 946, "protein_name": "Sorting nexin-14", "gene_name": "SNX14", "organism": "Human", "refseq_name": "sorting nexin-14 isoform c", "refseq_ac": [ { "id": "NP_001284543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284543", "type": "external" } ], "gene_names_uniprotkb": "SNX14", "gene_names_refseq": "RGS-PX2; SCAR20; SNX14", "protein_names_uniprotkb": "Sorting nexin-14", "protein_names_refseq": "sorting nexin-14 isoform c", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 20 (Disease Ontology:DOID:0080066)", "pathway": " (hsa:57231)", "pathway_count": 1, "publication_count": 93, "publication_id_list": "11237011;11485546;22645359;23481700;24275569;24714562;25148684;25418920;25439728;25505266;25576301;25645385;25848753;25892735;26154972;26375851;26443249;26728094;26992070;27058226;27600516;27846572;27862975;27913285;27920218;28063628;28228285;28254787;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29485866;29493099;29508533;29557506;29632046;29632711;29635513;29769354;29786170;30315122;30410026;30429286;30765438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37861952;37938771;38869753", "class_list": "", "function": "Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families, [RefSeq, PubMed]; Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25148684, PubMed:25848753)., [UniProtKB, UniProtKB, PubMed, PubMed]; SNX14 inhibits autophagy via the PI3K/AKT/mTOR signaling cascade in breast cancer cells., [RefSeq, PubMed]; Snx14, an endoplasmic reticulum-resident protein associated with the cerebellar ataxia SCAR20, localizes to ER-LD contacts following fatty acid treatment, where it promotes lipid droplet maturation., [RefSeq, PubMed]; The circSNX14 functions as a tumor suppressor via the miR-562/ LATS2 pathway in hepatocellular carcinoma cells., [RefSeq, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]., [RefSeq]; We therefore identify an important role for SNX14 in neutral lipid homeostasis between the endoplasmic reticulum , lysosomes and lipid droplets that may provide an early intervention target to alleviate the clinical symptoms of autosomal recessive cerebellar ataxia 20 (SCAR20)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DI55;Q4VBR3;Q5TCF9;Q5TCG0;Q6NUI7;Q6PI37;Q9BSD1", "ec_number_list": [], "go_molecular_function": "GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0030425 dendrite;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0098794 postsynapse", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0015031 protein transport;GO:0099170 postsynaptic modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9Y5W7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Y6-1", "uniprot_id": [ { "id": "ST14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Y6", "type": "external" } ], "mass": 94770.0, "length": 855, "protein_name": "Suppressor of tumorigenicity 14 protein", "gene_name": "ST14", "organism": "Human", "refseq_name": "suppressor of tumorigenicity 14 protein", "refseq_ac": [ { "id": "NP_068813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068813", "type": "external" } ], "gene_names_uniprotkb": "ST14; PRSS14; SNC19; TADG15", "gene_names_refseq": "ARCI11; CAP3; HAI; MT-SP1; MTSP1; PRSS14; SNC19; ST14; TADG15; TMPRSS14", "protein_names_uniprotkb": "Suppressor of tumorigenicity 14 protein; 3.4.21.109; MT-SP1; Matriptase; Membrane-type serine protease 1; Prostamin; Serine protease 14; Serine protease TADG-15; Tumor-associated differentially-expressed gene 15 protein", "protein_names_refseq": "channel-activating protein 3; membrane-type serine protease 1; prostamin; serine protease 14; serine protease TADG-15; suppression of tumorigenicity 14 (colon carcinoma); suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin); suppressor of tumorigenicity 14 protein; tumor associated differentially expressed gene 15 protein", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); autosomal recessive congenital ichthyosis 11 (Disease Ontology:DOID:0060720); Sjogren's syndrome (Disease Ontology:DOID:12894); granulosa cell tumor (Disease Ontology:DOID:2999); dysgerminoma (Disease Ontology:DOID:4441); renal cell carcinoma (Disease Ontology:DOID:4450); prostate carcinoma in situ (Disease Ontology:DOID:8634)", "pathway": " (hsa:6768); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10.1038/emboj.2013.79;10066784;10196183;10231017;10373424;10373425;10411887;10500122;10588656;10771479;11350120;11380615;11590230;11696548;12902340;15033990;15337775;15797384;15803139;16007225;16061697;16407223;16639001;17273967;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23090970;23584533;23629652;24190977;25576301;25576336;25926655;26390218;26992070;28710277;29242379;29314611;29331515;29557506;29632711;29741879;29786170;29789417;30779550;32983136;33043033;33691108;33732248;33912179;33936100;33981976;34185709;34418985;35020274;35051231;35561310;35580925;35950457;35964051;36215666;36241641;36284347;36756125;37074911;38547126;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Endocytic activation and exosomal secretion of matriptase stimulate the second wave of EGF signaling to promote skin and breast cancer invasion., [RefSeq, PubMed]; Environment-Sensitive Ectodomain Shedding of Epithin/PRSS14 Increases Metastatic Potential of Breast Cancer Cells by Producing CCL2., [RefSeq, PubMed]; Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site (PubMed:10373424). Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing (PubMed:18843291). Proteolytically cleaves and therefore activates TMPRSS13 (PubMed:28710277)., [UniProtKB, PubMed, PubMed, PubMed]; Gene-associated methylation status of ST14 as a predictor of survival and hormone receptor positivity in breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. Publication Status: Online-Only, [RefSeq, PubMed]; Role of the polycystic kidney disease domain in matriptase chaperone activity and localization of hepatocyte growth factor activator inhibitor-1. Review article, [RefSeq, PubMed]; The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [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": 10, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 7, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q9BS01;Q9H3S0;Q9HB36;Q9HCA3", "ec_number_list": [ { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.21.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.109", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0030216 keratinocyte differentiation;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q9Y5Y6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WXS9-1", "uniprot_id": [ { "id": "TBC3I_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WXS9", "type": "external" } ], "mass": 62205.0, "length": 549, "protein_name": "TBC1 domain family member 3I", "gene_name": "TBC1D3I", "organism": "Human", "refseq_name": "TBC1 domain family member 3I", "refseq_ac": [ { "id": "NP_001278392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278392", "type": "external" } ], "gene_names_uniprotkb": "TBC1D3I", "gene_names_refseq": "PRC17; TBC1D3I", "protein_names_uniprotkb": "TBC1 domain family member 3I", "protein_names_refseq": "Prostate cancer gene 17 protein; Protein TRE17-alpha; Rab GTPase-activating protein PRC17; TBC1 domain family member 3I; TBC1 domain family member 3; TBC1 domain family member-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:102724862)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;21030649;34509645", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0005096 GTPase activator activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A087WXS9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087X1G2-1", "uniprot_id": [ { "id": "TBC3K_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087X1G2", "type": "external" } ], "mass": 62171.0, "length": 549, "protein_name": "TBC1 domain family member 3K", "gene_name": "TBC1D3K", "organism": "Human", "refseq_name": "TBC1 domain family member 3K", "refseq_ac": [ { "id": "NP_001278393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278393", "type": "external" } ], "gene_names_uniprotkb": "TBC1D3K", "gene_names_refseq": "TBC1D3K", "protein_names_uniprotkb": "TBC1 domain family member 3K", "protein_names_refseq": "TBC1 domain family member 3K; TBC1 domain family member-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060351)", "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, 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: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": "A0A087X1G2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTR8-1", "uniprot_id": [ { "id": "T2R42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTR8", "type": "external" } ], "mass": 36262.0, "length": 314, "protein_name": "Taste receptor type 2 member 42", "gene_name": "TAS2R42", "organism": "Human", "refseq_name": "taste receptor type 2 member 42", "refseq_ac": [ { "id": "NP_852094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852094", "type": "external" } ], "gene_names_uniprotkb": "TAS2R42; TAS2R55", "gene_names_refseq": "T2R24; T2R42; T2R55; TAS2R42; TAS2R55", "protein_names_uniprotkb": "Taste receptor type 2 member 42; T2R42; T2R55; Taste receptor type 2 member 55", "protein_names_refseq": "candidate taste receptor hT2R55; taste receptor type 2 member 42; taste receptor type 2 member 55; taste receptor, type 2, member 42", "tax_id": 9606, "disease": "", "pathway": " (hsa:353164); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "11007482;11208605;11917125;12120503;12679530;1329206;15194188;15496549;15576628;15951850;16634148;16923326;18434541;18577758;20022913;20555319;21148030;22397221;23121374;23632330;23674604;24235081;2534964;27071541;2748346;2834384;29614098;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Further studies revealed that TAS2R41 is a 'specialist' receptor highly selective for this antibiotic., [RefSeq, PubMed]; Our results show that the expression rate of some of the T2R taste receptor genes was increased significantly in patients with phantogeusia., [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)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A2RRP4;Q645X0", "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_biological_process": "GO:0050909 sensory perception of taste", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q7RTR8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV15-1", "uniprot_id": [ { "id": "T255B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV15", "type": "external" } ], "mass": 34609.0, "length": 326, "protein_name": "Transmembrane protein 255B", "gene_name": "TMEM255B", "organism": "Human", "refseq_name": "transmembrane protein 255B isoform 1", "refseq_ac": [ { "id": "NP_872420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872420", "type": "external" } ], "gene_names_uniprotkb": "TMEM255B; FAM70B", "gene_names_refseq": "FAM70B; TMEM255B", "protein_names_uniprotkb": "Transmembrane protein 255B; Protein FAM70B", "protein_names_refseq": "family with sequence similarity 70, member B; protein FAM70B; transmembrane protein 255B isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:348013)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18083107;28218747;29557506;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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8WV15-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFQ2-1", "uniprot_id": [ { "id": "TCAF2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFQ2", "type": "external" } ], "mass": 100906.0, "length": 919, "protein_name": "TRPM8 channel-associated factor 2", "gene_name": "TCAF2", "organism": "Human", "refseq_name": "TRPM8 channel-associated factor 2 isoform B", "refseq_ac": [ { "id": "NP_001123498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123498", "type": "external" } ], "gene_names_uniprotkb": "TCAF2; FAM115C; FAM139A", "gene_names_refseq": "FAM115C; FAM139A; GATD9B; GATD9; TCAF2", "protein_names_uniprotkb": "TRPM8 channel-associated factor 2; TRP channel-associated factor 2", "protein_names_refseq": "TRP channel-associated factor 2; TRPM8 channel-associated factor 2 isoform B; family with sequence similarity 115, member C; family with sequence similarity 139, member A; protein FAM115C", "tax_id": 9606, "disease": "", "pathway": " (hsa:285966)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "22299025;23481700;25559186;25576301;25645385;26154972;28228285;28832583;29242379;29351928;29493099;29557506;30315122;31092671;31844290;31937595;32938616;33141586;33298915;33592498;33717175;33968037;34171305;34211107;34433829;35051231;35580925;36010968;37506986;37635201;38019450", "class_list": "", "function": "Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans. Publication Status: Online-Only, [RefSeq, PubMed]; Negatively regulates the plasma membrane cation channel TRPM8 activity. Involved in the recruitment of TRPM8 to the cell surface. Promotes prostate cancer cell migration stimulation in a TRPM8-dependent manner., [UniProtKB, PubMed]; Report novel TRP channel-associated factors that modulate TRPM8 activity., [RefSeq, PubMed]; TCAF2 drives glioma cellular migratory/invasion properties through STAT3 signaling., [RefSeq, PubMed]; TCAF2 in Pericytes Promotes Colorectal Cancer Liver Metastasis via Inhibiting Cold-Sensing TRPM8 Channel., [RefSeq, PubMed]; TCAF2 is associated with the immune microenvironment, promotes pathogenesis, and impairs prognosis in glioma., [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": 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": "B4DK02;Q14D25;Q17RQ4;Q8IWQ0;Q8NF84", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0090314 positive regulation of protein targeting to membrane;GO:0010360 negative regulation of anion channel activity;GO:1903959 regulation of monoatomic anion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "A6NFQ2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKL6-1", "uniprot_id": [ { "id": "T200C_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKL6", "type": "external" } ], "mass": 63928.0, "length": 621, "protein_name": "Transmembrane protein 200C", "gene_name": "TMEM200C", "organism": "Human", "refseq_name": "transmembrane protein 200C", "refseq_ac": [ { "id": "NP_001073678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073678", "type": "external" } ], "gene_names_uniprotkb": "TMEM200C; TTMA", "gene_names_refseq": "TMEM200C; TTMA", "protein_names_uniprotkb": "Transmembrane protein 200C; Transmembrane protein TTMA; Two transmembrane domain-containing family member A", "protein_names_refseq": "transmembrane protein 200C; transmembrane protein TTMA; two transmembrane domain family member A; two transmembrane domain-containing family member A", "tax_id": 9606, "disease": "", "pathway": " (hsa:645369)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "15722956;32502341;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": 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": "", "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": "A6NKL6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNZ2-1", "uniprot_id": [ { "id": "TBB8B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNZ2", "type": "external" } ], "mass": 49573.0, "length": 444, "protein_name": "Tubulin beta 8B", "gene_name": "TUBB8B", "organism": "Human", "refseq_name": "tubulin beta 8B isoform 1", "refseq_ac": [ { "id": "NP_001345618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345618", "type": "external" } ], "gene_names_uniprotkb": "TUBB8B", "gene_names_refseq": "TUBB8B; TUBB8P12", "protein_names_uniprotkb": "Tubulin beta 8B", "protein_names_refseq": "HSA18p11 beta-tubulin 4Q pseudogene; Tubulin beta-8 chain-like protein LOC260334; tubulin beta 8 pseudogene 12; tubulin beta 8B isoform 1", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934)", "pathway": " (hsa:260334); (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-437239); (R-HSA-5620920); (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": 27, "publication_count": 634, "publication_id_list": "10036229;10052452;10064083;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;10848580;10866685;10903204;10921873;10958683;11035033;11080672;11081627;11096080;11134010;11152499;11156368;11172815;11238103;11238927;11278865;11285137;11306556;11313968;11337501;11350938;11371342;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;12194817;12198549;12231563;12368902;12388752;12397061;12401177;12429848;12432908;12447383;12577064;12634853;12679384;12732141;12742663;12748383;12781197;12805219;12852857;12857923;12882984;12925777;12942088;13486053;1373135;1406973;14504276;14585331;14654841;14675537;14730319;14731593;14742712;1493716;15006353;15029241;15037235;15085137;15159550;1520276;15229216;15272311;15299030;15326200;15339662;15381148;15483056;15507212;15536180;15591024;15591061;15616190;15632110;15664193;15723797;15728195;15737063;15737233;15749704;15752359;15813748;15864301;15866170;15878873;15890843;15907845;15911768;15914536;15919790;15944396;15971998;16030262;1607388;16140760;16179258;16179259;16181339;16207721;16242130;16262723;16292343;1631136;16314391;16330023;16371510;16373505;16403413;16431927;16439214;16541025;16571679;16600570;16618111;16622419;16622420;16633337;16682347;16717090;16723730;1680566;16824007;16880201;16890222;16901895;16912714;16926190;16940185;16943183;1695551;16982605;17030981;17079286;17084703;17112726;17113138;17113389;17129783;17142755;17196341;17196820;17198702;17200141;17244649;17244817;17244818;17253781;17274799;17283181;17346968;17360540;17360631;17369524;1737036;17429068;17451557;17488286;17499049;17538014;17591767;17760859;17785525;17804755;17827179;17846173;17855605;17927562;17956946;17995453;17997397;18001770;18046453;18086915;18096616;18097444;18180281;18182008;18203656;18215318;18237546;18243712;18254226;18283113;18287528;18292509;18331838;18342609;18478542;1850831;18524849;18535146;18635947;18641641;18664496;18716626;18809720;18835251;18923426;18957415;1898986;19013499;19015319;19079338;19081074;19109418;19116309;19151722;19164740;19229320;19252894;19278660;19296914;19338388;19350017;19359544;19369418;19416861;19524510;19531357;1956401;19564404;1957170;19631211;19635840;19682613;19696148;19710021;19733181;19737400;19753100;19758564;19804757;19815554;19823565;19838063;19965387;20005805;20006655;20018861;20030946;20038533;20072699;20101212;20136777;20357002;20395957;20420828;20427317;20462495;20519500;20519502;20534429;20577264;20591975;20603001;20631154;20637885;20685959;20701589;20829795;20837646;20937701;21068373;21072047;21074048;21111234;21116285;21123651;21148482;21158691;21173190;21183720;2121367;21219331;21294215;21299499;21376746;21397845;2142332;21441454;21454505;21454690;21518807;21550981;21576392;21636578;21689688;21690215;21700222;21730051;21796517;21844168;21868368;21878504;2190094;21907143;21937648;21978664;21987589;21994559;22011577;22013193;22094269;22094460;22130221;22174689;22214662;22266222;22275430;22304919;22318716;22433123;2247437;22562055;22608513;22790947;22791416;22885700;22944912;22986343;23071318;23084476;23222643;23229543;23236459;23333653;23358242;23396477;23515720;23732991;23783758;23801653;23839779;2391366;23921553;24012426;24097348;24119662;24200693;24347309;2448316;24623135;24659800;24694367;24753571;24806965;24891604;24906155;24914801;25103237;2521221;2522352;25233431;25364732;25436559;25453831;25468068;25492864;2550440;25653431;25740311;25789526;25848059;25957412;26040712;26040713;26073023;26203193;26313416;26432638;26446704;26488609;26572645;26716879;26817845;26875866;27208315;27269119;27423063;27462449;27501258;27663436;27974558;28069888;28083797;28167698;28242692;28281686;28301631;28415052;28755533;28765891;28919297;29146868;29170442;29175459;29231267;29348664;29394925;29395325;29440070;29501855;30174290;30197098;30360396;30513301;30590034;30761409;30770398;31020640;31031002;31110491;31141847;3130248;3134048;31409757;31731497;31826031;31844290;32016915;32093270;32157095;32320027;32350084;32357974;32387766;32448030;32488085;32544881;32716602;32801355;32938616;32982970;33298915;33592498;33808629;33911136;33912179;34087483;34171305;34174402;34260926;34433824;34846842;34974812;35580925;35685460;35947956;36010968;36215666;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;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;9150144;9177194;9199170;9202021;9244307;9288971;9311912;9312039;9323141;9368021;9380700;9382863;9405360;9427680;9442054;9464360;9464361;9490716;9497313;9521856;9528799;9539769;9545226;9606180;9649308;9649503;9651214;9667968;9671725;9671731;9687506;9694656;9721721;9733780;9737981;9751720;9819388;9844631;9864362;9892021;9920933;9990005", "class_list": "", "function": "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": 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": 17, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0070062 extracellular exosome;GO:0045171 intercellular bridge;GO:0072686 mitotic spindle", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 63.8, "record_id": "A6NNZ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B2RXF0-1", "uniprot_id": [ { "id": "T229A_HUMAN", "url": "https://www.uniprot.org/uniprot/B2RXF0", "type": "external" } ], "mass": 42370.0, "length": 380, "protein_name": "Transmembrane protein 229A", "gene_name": "TMEM229A", "organism": "Human", "refseq_name": "transmembrane protein 229A", "refseq_ac": [ { "id": "NP_001129474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129474", "type": "external" } ], "gene_names_uniprotkb": "TMEM229A", "gene_names_refseq": "TMEM229A", "protein_names_uniprotkb": "Transmembrane protein 229A", "protein_names_refseq": "transmembrane protein 229A", "tax_id": 9606, "disease": "", "pathway": " (hsa:730130)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "28218747;29242379;29437277;29557506;30429286;31848261;34087483;34184076;35051231;39188060", "class_list": "", "function": "TMEM229A suppresses nonsmall cell lung cancer progression via inactivating the ERK pathway., [RefSeq, PubMed]; Whole-Exome Sequencing and Experimental Validation Unveil the Roles of TMEM229A Q200del Mutation in 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A4D0X6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "B2RXF0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B9EJG8-1", "uniprot_id": [ { "id": "T150C_HUMAN", "url": "https://www.uniprot.org/uniprot/B9EJG8", "type": "external" } ], "mass": 27887.0, "length": 249, "protein_name": "Transmembrane protein 150C", "gene_name": "TMEM150C", "organism": "Human", "refseq_name": "transmembrane protein 150C isoform 1", "refseq_ac": [ { "id": "NP_001073975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073975", "type": "external" } ], "gene_names_uniprotkb": "TMEM150C; TTN3", "gene_names_refseq": "DRAM4; TMEM150C; TTN3", "protein_names_uniprotkb": "Transmembrane protein 150C; Tentonin 3", "protein_names_refseq": "tentonin 3; transmembrane protein 150C isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:441027)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25608530;27600516;28832583;35580925;38124148;38850532", "class_list": "", "function": "Exploring Piezo1, Piezo2, and TMEM150C in human brain tissues and their correlation with brain biomechanical characteristics. Publication Status: Online-Only, [RefSeq, PubMed]; Nonselective cationic channel with high permeability to Ca(2+). Component of a mechanosensitive cation channel, confers mechanically activated (MA) currents with slow inactivation kinetics. May contribute to proprioception., [UniProtKB, UniProtKB]; Tentonin 3 is a pore-forming subunit of a slow inactivation mechanosensitive channel., [RefSeq, PubMed]; This gene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting, mechanically activated currents in dorsal root ganglion neurons. Mechanically activated ion channels are sensors that are critical for hearing, touch, pain, and blood pressure regulation. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7Z4J5;B7Z4L3;B7Z692;B7Z6X6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0140135 mechanosensitive monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0071260 cellular response to mechanical stimulus;GO:0019230 proprioception", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "B9EJG8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HP8-1", "uniprot_id": [ { "id": "T176A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HP8", "type": "external" } ], "mass": 26116.0, "length": 235, "protein_name": "Transmembrane protein 176A", "gene_name": "TMEM176A", "organism": "Human", "refseq_name": "transmembrane protein 176A", "refseq_ac": [ { "id": "NP_060957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060957", "type": "external" } ], "gene_names_uniprotkb": "TMEM176A; HCA112", "gene_names_refseq": "GS188; HCA112; MS4B1; TMEM176A", "protein_names_uniprotkb": "Transmembrane protein 176A; Hepatocellular carcinoma-associated antigen 112", "protein_names_refseq": "hepatocellular carcinoma-associated antigen 112; likley ortholog of mouse GS188; transmembrane protein 176A", "tax_id": 9606, "disease": "", "pathway": " (hsa:55365)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12097419;17074750;22244448;25130899;28467828;29557506;30459171;31354034;31844290;32983136;33392160;33593482;34558311;35580925", "class_list": "", "function": "Human TMEM176A and 176B protein levels are significantly elevated in lymphoma, but not in normal tissues, [RefSeq, PubMed]; Methylation of TMEM176A, a key ERK signaling regulator, is a novel synthetic lethality marker of ATM inhibitors in human lung cancer., [RefSeq, PubMed]; TMEM176A acts as a tumor suppressor gene in pancreatic cancer by inhibiting ERK signaling., [RefSeq, PubMed]; TMEM176A and TMEM176B Are Candidate Regulators of Inhibition of Dendritic Cell Maturation and Function after Chronic Spinal Cord Injury., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DX00;Q9NYC7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:2001199 negative regulation of dendritic cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96HP8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUM4-1", "uniprot_id": [ { "id": "T106B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUM4", "type": "external" } ], "mass": 31127.0, "length": 274, "protein_name": "Transmembrane protein 106B", "gene_name": "TMEM106B", "organism": "Human", "refseq_name": "transmembrane protein 106B", "refseq_ac": [ { "id": "NP_001127704", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127704", "type": "external" } ], "gene_names_uniprotkb": "TMEM106B", "gene_names_refseq": "HLD16; TMEM106B", "protein_names_uniprotkb": "Transmembrane protein 106B", "protein_names_refseq": "transmembrane protein 106B", "tax_id": 9606, "disease": "C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (Disease Ontology:DOID:0060213); frontotemporal dementia 2 (Disease Ontology:DOID:0060672); hypomyelinating leukodystrophy 16 (Disease Ontology:DOID:0070405)", "pathway": " (hsa:54664)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17016520;17081983;19159218;19651622;19901323;20068231;20154673;20383883;21104415;21178100;21220649;21354975;22511793;22895706;22898188;23090970;23136129;23186163;23742080;24190977;24357581;24385136;24442578;24488309;25066864;25255805;26992070;27090790;27600516;27846572;28657654;28728022;28832583;28904123;29186371;29242379;29393594;29444210;29557506;29632711;29741879;30779550;31154438;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33298915;33333024;33592498;33686287;33691108;33912179;33968037;34019948;34087483;34171305;34357683;34405274;34433824;34509645;34725712;35051231;35247328;35251023;35344984;35344985;35580925;36010968;36240223;36241641;37074911;37421949;37726834;37938771;38232138;38665916;38674351;38710967;38924247;40596516", "class_list": "", "function": "(Microbial infection) Plays a role in human coronavirus SARS-CoV-2 infection, but not in common cold coronaviruses HCoV-229E and HCoV-OC43 infections. Involved in ACE2-independent SARS-CoV-2 cell entry. Required for post-endocytic stage of virus entry, facilitates spike-mediated membrane fusion. Virus attachment and endocytosis can also be mediated by other cell surface receptors., [UniProtKB, PubMed, PubMed, PubMed]; A common Alu insertion in the 3'UTR of TMEM106B is associated with risk of dementia., [RefSeq, PubMed]; Association of TMEM106B with Cortical APOE Gene Expression in Neurodegenerative Conditions. Publication Status: Online-Only, [RefSeq, PubMed]; FTLD-TDP risk gene TMEM106B is involved in the development of cognitive impairment in amyotrophic lateral sclerosis., [RefSeq, PubMed]; In neurons, involved in the transport of late endosomes/lysosomes (PubMed:25066864). May be involved in dendrite morphogenesis and maintenance by regulating lysosomal trafficking (PubMed:25066864). May act as a molecular brake for retrograde transport of late endosomes/lysosomes, possibly via its interaction with MAP6 (By similarity). In motoneurons, may mediate the axonal transport of lysosomes and axonal sorting at the initial segment (By similarity). It remains unclear whether TMEM106B affects the transport of moving lysosomes in the anterograde or retrograde direction in neurites and whether it is important in the sorting of lysosomes in axons or in dendrites (By similarity). In neurons, may also play a role in the regulation of lysosomal size and responsiveness to stress (PubMed:25066864). Required for proper lysosomal acidification (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Our results suggest that genetic variation in TMEM106B (rs1990622) may influence risk for frontotemporal lobar degeneration with TAR DNA-binding protein inclusions (FTLD-TDP) by modulating secreted levels of GRN., [RefSeq, PubMed]; Physiological and pathological functions of TMEM106B in neurodegenerative diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia., [RefSeq, PubMed]; The genome-wide association study revealed a strong association between FTLD-TDP and several single nucleotide polymorphisms (SNPs) that mapped in the region of the TMEM106B gene, [RefSeq, PubMed]; The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus. Erratum:[Mol Neurodegener. 2024 Feb 27;19(1):21. doi: 10.1186/s13024-024-00709-9. PMID: 38409051] Publication Status: Online-Only, [RefSeq, PubMed]; This study strongly supported TMEM106B as a risk gene for frontotemporal lobar degeneration., [RefSeq, PubMed]; Variants in TMEM106B are strong risk factors for frontotemporal lobar degeneration with TDP-43 inculsions. GeneRIF: 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": 7, "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": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A4D108;Q53FL9;Q8N4L0", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0007040 lysosome organization;GO:0048813 dendrite morphogenesis;GO:0007041 lysosomal transport;GO:0032418 lysosome localization", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q9NUM4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5J6-1", "uniprot_id": [ { "id": "T10B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5J6", "type": "external" } ], "mass": 11586.0, "length": 103, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim10 B", "gene_name": "TIMM10B", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim10 B", "refseq_ac": [ { "id": "NP_036324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036324", "type": "external" } ], "gene_names_uniprotkb": "TIMM10B; FXC1; TIM9B; TIMM9B", "gene_names_refseq": "FXC1; TIM10B; TIMM10B; Tim9b", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim10 B; Fracture callus protein 1; FxC1; Mitochondrial import inner membrane translocase subunit Tim9 B; TIMM10B; Tim10b", "protein_names_refseq": "fracture callus 1 homolog; fracture callus protein 1; mitochondrial import inner membrane translocase subunit Tim10 B; mitochondrial import inner membrane translocase subunit Tim9 B; translocase of inner mitochondrial membrane 10 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:26515); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10552927;10611480;11237011;11489896;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21750375;23041349;23597483;23811401;25315652;25576301;26154972;26697887;26992070;27846572;28228285;28832583;29242379;29485866;29493099;30315122;31844290;32157095;32265295;33298915;33912179;33936100;33968037;34561969", "class_list": "", "function": "Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin-pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space., [UniProtKB, PubMed]; FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q96FF3", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051082 unfolded protein binding;GO:0140318 protein transporter activity", "go_cellular_component": "GO:0042719 mitochondrial intermembrane space chaperone complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0042721 TIM22 mitochondrial import inner membrane insertion complex", "go_biological_process": "GO:0015031 protein transport;GO:0045039 protein insertion into mitochondrial inner membrane;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9Y5J6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14894-1", "uniprot_id": [ { "id": "T4S5_HUMAN", "url": "https://www.uniprot.org/uniprot/O14894", "type": "external" } ], "mass": 20823.0, "length": 197, "protein_name": "Transmembrane 4 L6 family member 5", "gene_name": "TM4SF5", "organism": "Human", "refseq_name": "transmembrane 4 L6 family member 5", "refseq_ac": [ { "id": "NP_003954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003954", "type": "external" } ], "gene_names_uniprotkb": "TM4SF5", "gene_names_refseq": "TM4SF5", "protein_names_uniprotkb": "Transmembrane 4 L6 family member 5; Tetraspan transmembrane protein L6H", "protein_names_refseq": "tetraspan transmembrane protein L6H; transmembrane 4 L6 family member 5; transmembrane 4 superfamily member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9032)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "20399237;23481700;30956113;33554392;34187836;34335982;34364885;34921636;9479038", "class_list": "", "function": "Acts as a lysosomal membrane arginine sensor (PubMed:30956113). Forms a complex with MTOR and SLC38A9 on lysosomal membranes in an arginine-regulated manner, leading to arginine efflux which enables the activation of mTORC1 which subsequently leads to RPS6KB1 and EIF4EBP1 phosphorylations (PubMed:30956113). Facilitates cell cycle G1/S phase progression and the translocation of the CDK4-CCND1 complex into the nucleus (PubMed:20399237). CDKN1B and RHOA/ROCK signaling activity are involved in TM4SF5-mediated acceleration of G1/S phase progression (PubMed:20399237)., [UniProtKB, PubMed, PubMed]; N-terminus-independent activation of c-Src via binding to a tetraspan(in) TM4SF5 in hepatocellular carcinoma is abolished by the TM4SF5 C-terminal peptide application. Publication Status: Online-Only, [RefSeq, PubMed]; SLAC2B-dependent microtubule acetylation regulates extracellular matrix-mediated intracellular TM4SF5 traffic to the plasma membranes., [RefSeq, PubMed]; TM4SF5 Knockout Protects Mice From Diet-Induced Obesity Partly by Regulating Autophagy in Adipose Tissue., [RefSeq, PubMed]; TM4SF5-mediated liver malignancy involves NK cell exhaustion-like phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Tetraspanin TM4SF5 in hepatocytes negatively modulates SLC27A transporters during acute fatty acid supply., [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 is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [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": 6, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q17RW9;Q6IB79", "ec_number_list": [], "go_molecular_function": "GO:0034618 arginine binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:2000045 regulation of G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O14894-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95359-4", "uniprot_id": [ { "id": "TACC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95359", "type": "external" } ], "mass": 309427.0, "length": 2948, "protein_name": "Transforming acidic coiled-coil-containing protein 2", "gene_name": "TACC2", "organism": "Human", "refseq_name": "transforming acidic coiled-coil-containing protein 2 isoform g", "refseq_ac": [ { "id": "NP_001278807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278807", "type": "external" } ], "gene_names_uniprotkb": "TACC2", "gene_names_refseq": "AZU-1; ECTACC; TACC2", "protein_names_uniprotkb": "Transforming acidic coiled-coil-containing protein 2; AZU-1; Anti-Zuai-1", "protein_names_refseq": "anti zuai-1; transforming acidic coiled-coil-containing protein 2 isoform g", "tax_id": 9606, "disease": "", "pathway": " (hsa:10579)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;10749935;11121038;11161455;12620397;14767476;15304323;16959974;16964243;17081983;18669648;18991276;20068231;21406692;23186163;24275569;24715725;25576301;25810538;28218747;29074988;29557506;29786170;29789417;29843208;30192525;30833945;31154438;31217245;31530632;31844290;31996486;32157095;32357974;32387766;32488085;32938616;33912179;33931666;33968037;35051231;35494241;35580925;38253038;38769351;39894887", "class_list": "", "function": "A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals. Publication Status: Online-Only, [RefSeq, PubMed]; Cigarette smoke exposure enhances transforming acidic coiled-coil-containing protein 2 turnover and thereby promotes emphysema. Publication Status: Online-Only, [RefSeq, PubMed]; Nanopore sequencing reveals TACC2 locus complexity and diversity of isoforms transcribed from an intronic promoter. Erratum:[Sci Rep. 2021 Aug 13;11(1):16835. doi: 10.1038/s41598-021-96196-9. PMID: 34389798] Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors (By similarity). May play a role in organizing centrosomal microtubules. May act as a tumor suppressor protein. May represent a tumor progression marker., [UniProtKB, PubMed]; TACC2 protein is expressed mainly in the nucleus of the endometrial cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This finding suggests that TACC2 may be a useful tool as a candidate biomarker to predict the recurrence and prognosis of hepatocellular carcinoma., [RefSeq, PubMed]; Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 36, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q4VXL0;Q4VXL3;Q4VXL6;Q4VXL7;Q5U5T7;Q86WG6;Q86WG7;Q8TCK9;Q9BVQ1;Q9NZ41;Q9NZR5", "ec_number_list": [], "go_molecular_function": "GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0021987 cerebral cortex development;GO:0007052 mitotic spindle organization;GO:0007097 nuclear migration;GO:0030953 astral microtubule organization", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "O95359-4", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95759-1", "uniprot_id": [ { "id": "TBCD8_HUMAN", "url": "https://www.uniprot.org/uniprot/O95759", "type": "external" } ], "mass": 130835.0, "length": 1140, "protein_name": "TBC1 domain family member 8", "gene_name": "TBC1D8", "organism": "Human", "refseq_name": "TBC1 domain family member 8 isoform 2", "refseq_ac": [ { "id": "NP_001095896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095896", "type": "external" } ], "gene_names_uniprotkb": "TBC1D8; VRP", "gene_names_refseq": "AD3; GRAMD8; HBLP1; TBC1D8A; TBC1D8; VRP", "protein_names_uniprotkb": "TBC1 domain family member 8; AD 3; Vascular Rab-GAP/TBC-containing protein", "protein_names_refseq": "BUB2-like protein 1; TBC1 domain family member 8 isoform 2; TBC1 domain family, member 8 (with GRAM domain); TBC1 domain family, member 8A; vascular Rab-GAP/TBC-containing protein", "tax_id": 9606, "disease": "nephrotic syndrome type 20 (Disease Ontology:DOID:0070357)", "pathway": " (hsa:11138)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10373574;11237011;17686842;19077034;22869377;24715725;25576301;25880248;26992070;27846572;28228285;28832583;28904123;29242379;29493099;29557506;29769354;29786170;29789417;30315122;30779550;30809301;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32938616;32983136;33091337;33123756;33298915;33912179;33968037;33981976;34171305;34509645;34561969;34932366;35051231;35154160;35318648;35494241;35580925;36010968;36215666;36241641", "class_list": "", "function": "Isolated a TBC Rab-GAP cellular binding partner interacting with the N terminus of HCV NS5A; depleting the expression of this partner severely impairs HCV RNA replication with no obvious effect on cell viability, [RefSeq, PubMed]; May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB, UniProtKB, UniProtKB]; TBC1D8 drives ovarian cancer tumorigenesis and metabolic reprogramming and serves as an independent prognosis factor for ovarian cancer patients Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NDL4;A8K9W1;B9A6K4;Q53SQ4;Q9UQ32", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0008015 blood circulation;GO:0003008 system process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "O95759-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10600-1", "uniprot_id": [ { "id": "TGFB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P10600", "type": "external" } ], "mass": 47328.0, "length": 412, "protein_name": "Transforming growth factor beta-3 proprotein", "gene_name": "TGFB3", "organism": "Human", "refseq_name": "transforming growth factor beta-3 proprotein isoform 2 precursor", "refseq_ac": [ { "id": "NP_001316867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316867", "type": "external" } ], "gene_names_uniprotkb": "TGFB3", "gene_names_refseq": "ARVD1; ARVD; LDS5; RNHF; TGF-beta3; TGFB3", "protein_names_uniprotkb": "Transforming growth factor beta-3 proprotein", "protein_names_refseq": "prepro-transforming growth factor beta-3; transforming growth factor beta-3 proprotein isoform 2 precursor; transforming growth factor beta-3 proprotein", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); Loeys-Dietz syndrome 5 (Disease Ontology:DOID:0070236); arrhythmogenic right ventricular dysplasia 1 (Disease Ontology:DOID:0110070); hypertension (Disease Ontology:DOID:10763); colon cancer (Disease Ontology:DOID:219); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); colorectal cancer (Disease Ontology:DOID:9256); diabetic neuropathy (Disease Ontology:DOID:9743)", "pathway": " (hsa:7043); (R-HSA-114608); (R-HSA-2129379); (R-HSA-2173789); (R-HSA-3000178)", "pathway_count": 5, "publication_count": 120, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10022829;10025398;10339611;10424889;10544250;10581079;10646116;10673326;10930463;11084047;11100470;11141505;11237011;11259413;11390472;11970960;12225811;12358597;12415008;12429738;12482908;1333888;1376317;1400330;1435334;14630798;14701737;14715956;15075323;15296743;15297306;15350224;1544908;15564041;15639475;16293224;16493581;1708799;17324935;17588949;17827158;18339631;18469808;1875922;19720988;2059554;20625381;21642437;21646718;21789315;22134916;23090970;23290524;23640497;2364322;23824657;2412224;24190977;2420006;2430969;25813380;26797129;29557506;29741879;30429286;30779550;31154438;3164476;3208746;32350084;32357974;34185709;35051231;35251023;35580925;36010968;36284347;37074911;37938771;38253038;38546583;38594209;38705911;6193777;6439184;6457647;7499434;7500359;7527058;7534784;7542669;7559467;7685013;7693660;7693733;7737999;7852349;8002934;8047140;8242743;8440685;8467233;8798654;8819159;8943283;8947046;8980228;9233797;9252349;9294172;9311995;9341124;9346959;9346966;9685393;9725916;9865696;9949188", "class_list": "", "function": "Differential expression of small bowel TGFbeta1 and TGFbeta3 characterizes intestinal strictures in patients with fibrostenotic Crohn's disease., [RefSeq, PubMed]; Lack of Elevated Expression of TGFbeta3 Contributes to the Delay of Epithelial Wound Healing in Diabetic Corneas., [RefSeq, PubMed]; Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TGF-beta3 from fibroblasts promotes necrotising sialometaplasia by suppressing salivary gland cell proliferation and inducing squamous metaplasia., [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate 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. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]., [RefSeq]; Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively., [UniProtKB, UniProtKB, UniProtKB]; Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (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-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 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-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 8, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q8WV88", "ec_number_list": [], "go_molecular_function": "GO:0034714 type III transforming growth factor beta receptor binding;GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0050431 transforming growth factor beta binding;GO:0008083 growth factor 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:0042704 uterine wall breakdown;GO:0001701 in utero embryonic development;GO:0007507 heart development;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P10600-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59536-1", "uniprot_id": [ { "id": "T2R41_HUMAN", "url": "https://www.uniprot.org/uniprot/P59536", "type": "external" } ], "mass": 35896.0, "length": 307, "protein_name": "Taste receptor type 2 member 41", "gene_name": "TAS2R41", "organism": "Human", "refseq_name": "taste receptor type 2 member 41", "refseq_ac": [ { "id": "NP_795364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795364", "type": "external" } ], "gene_names_uniprotkb": "TAS2R41", "gene_names_refseq": "T2R41; T2R59; TAS2R41", "protein_names_uniprotkb": "Taste receptor type 2 member 41; T2R41; T2R59; Taste receptor type 2 member 59", "protein_names_refseq": "taste receptor type 2 member 41; taste receptor type 2 member 59; taste receptor, type 2, member 41", "tax_id": 9606, "disease": "", "pathway": " (hsa:259287); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;12584440;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15744053;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;26992070;27071541;2748346;28256214;2834384;29393594;29466837;29557506;29614098;29659026;29744740;29786170;30013099;30563861;31154438;33141586;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "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)., [UniProtKB]; This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. Chloramphenicol is an agonist for the encoded protein. [provided by RefSeq, Jul 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": 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": "P59550;Q495I2;Q50KJ5;Q50KJ6;Q50KJ7;Q645W7", "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:0050909 sensory perception of taste", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P59536-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59551-1", "uniprot_id": [ { "id": "T2R60_HUMAN", "url": "https://www.uniprot.org/uniprot/P59551", "type": "external" } ], "mass": 36337.0, "length": 318, "protein_name": "Taste receptor type 2 member 60", "gene_name": "TAS2R60", "organism": "Human", "refseq_name": "taste receptor type 2 member 60", "refseq_ac": [ { "id": "NP_803186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803186", "type": "external" } ], "gene_names_uniprotkb": "TAS2R60", "gene_names_refseq": "T2R56; T2R60; TAS2R60", "protein_names_uniprotkb": "Taste receptor type 2 member 60; T2R56; T2R60; Taste receptor type 2 member 56", "protein_names_refseq": "taste receptor type 2 member 56; taste receptor type 2 member 60; taste receptor, type 2, member 60", "tax_id": 9606, "disease": "", "pathway": " (hsa:338398); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "11007482;11208605;11696554;11917125;12120503;12139982;12581520;12584440;12679530;1329206;15194188;15496549;15576628;15951850;16634148;16923326;18434541;18577758;20022913;20555319;21148030;23121374;23674604;24235081;2534964;27071541;2748346;2834384;29614098;31530632;32387766;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "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)., [UniProtKB]; This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. [provided by RefSeq, Jul 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": 13, "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": "A4D2G8;Q645W8;Q7RTR7", "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:0050913 sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P59551-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0IIM8-1", "uniprot_id": [ { "id": "TBC8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0IIM8", "type": "external" } ], "mass": 128709.0, "length": 1120, "protein_name": "TBC1 domain family member 8B", "gene_name": "TBC1D8B", "organism": "Human", "refseq_name": "TBC1 domain family member 8B isoform a", "refseq_ac": [ { "id": "NP_060222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060222", "type": "external" } ], "gene_names_uniprotkb": "TBC1D8B", "gene_names_refseq": "GRAMD8B; NPHS20; TBC1D8B", "protein_names_uniprotkb": "TBC1 domain family member 8B", "protein_names_refseq": "RP11-321G1.1; TBC1 domain family member 8B isoform a; TBC1 domain family, member 8B (with GRAM domain)", "tax_id": 9606, "disease": "nephrotic syndrome type 20 (Disease Ontology:DOID:0070357)", "pathway": " (hsa:54885); (R-HSA-432722)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10394364;11237011;11590181;11604418;11694590;11994746;15102850;16155256;17116749;19077034;23481700;25576301;25645385;25892735;26375851;26992070;28832583;28904123;29557506;29769354;29786170;30661770;30779550;31732614;31844290;32157095;32350084;32387766;32488085;32938616;32983136;33298915;33592498;33633747;33717175;33968037;33981976;34087483;34092754;34171305;34405274;34509645;35051231;35580925;36010968;36241641;36284347;38110796;8374173;8524399;8670264", "class_list": "", "function": "A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression., [RefSeq, PubMed]; Involved in vesicular recycling, probably as a RAB11B GTPase-activating protein., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Results confirmed that pathogenic variations in TBC1D8B are involved in X-linked podocytopathy and points to alterations in recycling processes as a mechanism of steroid-resistant nephrotic syndrome, [RefSeq, PubMed]; TBC1D8B mutations were found in 5 families with nephrotic syndrome: 2 premature stop codons (c.1030C>T, p.Arg344* and c.1383G>A, p.Trp461*), 3 missense mutations (c.2338A>T, p.Thr780Ser, c.1316T>G, p.Phe439Cys, and c.190C>T, p.Arg64Cys). TBC1D8B plays a regulatory role by inhibiting endogenous RAB11. It interacts with nephrin., [RefSeq, PubMed]; TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer., [RefSeq, PubMed]; This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9A6K5;B9A6K6;Q5JRB7;Q6ZVX5;Q9NXE3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0003094 glomerular filtration", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q0IIM8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13395-1", "uniprot_id": [ { "id": "TARB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13395", "type": "external" } ], "mass": 181675.0, "length": 1621, "protein_name": "tRNA (guanosine(18)-2'-O)-methyltransferase TARBP1", "gene_name": "TARBP1", "organism": "Human", "refseq_name": "tRNA (guanosine(18)-2'-O)-methyltransferase TARBP1", "refseq_ac": [ { "id": "NP_005637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005637", "type": "external" } ], "gene_names_uniprotkb": "TARBP1; TRM3; TRP185", "gene_names_refseq": "TARBP1; TRM3; TRMT3; TRP-185; TRP185", "protein_names_uniprotkb": "tRNA (guanosine(18)-2'-O)-methyltransferase TARBP1; 2.1.1.34; TAR RNA-binding protein 1; TAR RNA-binding protein of 185 kDa; TRP-185", "protein_names_refseq": "TAR (HIV) RNA-binding protein 1; TAR (HIV-1) RNA binding protein 1; TAR RNA loop binding protein; TAR RNA-binding protein 1; TAR RNA-binding protein of 185 kDa; probable methyltransferase TARBP1; tRNA (guanosine(18)-2'-O)-methyltransferase TARBP1; tRNA methyltransferase 3 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:6894)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "14654843;18412263;18691976;20068231;22223895;22544926;23481700;24715725;25418920;25421511;25505266;25576301;25645385;25880248;26154972;26464651;26992070;27920218;28063628;28228285;28514659;28649982;28832583;28904123;29242379;29393594;29557506;29632046;29632711;29789417;30315122;30410026;30429286;30524438;30833945;31019095;31217245;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33137342;33141586;33298915;33592498;33633747;33912179;33936100;33968037;34087483;34171305;34211107;34509645;34561969;35051231;35318648;35561310;35580925;36241641;36284347;38867004;7638159;8626763;8846792", "class_list": "", "function": "(Microbial infection) In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II (PubMed:7638159, PubMed:8626763, PubMed:8846792). Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA (PubMed:7638159, PubMed:8626763, PubMed:8846792)., [UniProtKB, PubMed, PubMed, PubMed]; DNA methylation associated with persistent ADHD suggests TARBP1 as novel candidate., [RefSeq, PubMed]; HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 18 (Gm18) in a subset of tRNA (PubMed:18412263, PubMed:31019095, PubMed:38867004). Selectively mediates Gm18 methylation of tRNAGln-TTG/CTG and tRNASer-TGA/GCT. Gm18 modification can enhance the stability of modified tRNAs (PubMed:38867004)., [UniProtKB, PubMed, PubMed, PubMed]; TARBP1 is positively regulated by MIR10A and MIR21 which are upregulated in heavy drinkers following psychological stress., [RefSeq, PubMed]; TARBP1 is up-regulated in hepatocellular carcinoma, and the expression of TARBP1 was associated with the pathological grading and clinical stage. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q9H581", "ec_number_list": [ { "id": "2.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.34", "type": "external" } ], "go_molecular_function": "GO:0016423 tRNA (guanine) methyltransferase activity;GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0141100 tRNA (guanine(18)-2'-O)-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030488 tRNA methylation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q13395-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16635-3", "uniprot_id": [ { "id": "TAZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16635", "type": "external" } ], "mass": 30203.0, "length": 262, "protein_name": "Tafazzin", "gene_name": "TAFAZZIN", "organism": "Human", "refseq_name": "tafazzin isoform 1", "refseq_ac": [ { "id": "NP_000107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000107", "type": "external" } ], "gene_names_uniprotkb": "TAFAZZIN; EFE2; G4.5; TAZ", "gene_names_refseq": "BTHS; CMD3A; EFE2; EFE; G4.5; LVNCX; TAFAZZIN; TAZ; Taz1", "protein_names_uniprotkb": "Tafazzin; 2.3.1.-; Protein G4.5; Taz", "protein_names_refseq": "protein G4.5; tafazzin isoform 1", "tax_id": 9606, "disease": "Barth syndrome (Disease Ontology:DOID:0050476); visceral heterotaxy (Disease Ontology:DOID:0050545); cardiomyopathy (Disease Ontology:DOID:0050700); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:6901); (R-HSA-1268020); (R-HSA-1482798)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;10092647;10336645;11238270;12032589;12517961;12930833;14551214;14726512;15152008;15254020;15499385;15644312;15683237;16185709;16849325;17082194;17510655;18174896;18678864;19075029;19164547;19409522;19416660;19453276;19700766;19737925;19767391;19962426;20593814;21750375;23041349;23409742;23597483;23811401;25315652;25418920;25576301;25598000;25941633;26697887;26908608;27893789;28063628;29129703;29393594;29632046;30315122;32234310;33096711;8083230;8630491;9382096;9382097;9417066;9487141", "class_list": "", "function": "Acyltransferase required to remodel newly synthesized phospholipid cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL), a key component of the mitochondrial inner membrane, with tissue specific acyl chains necessary for adequate mitochondrial function (PubMed:12930833, PubMed:19164547, PubMed:19700766, PubMed:26908608, PubMed:33096711). Its role in cellular physiology is to improve mitochondrial performance (PubMed:32234310). CL is critical for the coassembly of lipids and proteins in mitochondrial membranes, for instance, remodeling of the acyl groups of CL in the mitochondrial inner membrane affects the assembly and stability of respiratory chain complex IV and its supercomplex forms (By similarity). Catalyzes the transacylation between phospholipids and lysophospholipids, with the highest rate being between phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine or PC) and CL. Catalyzes both 1-acyl-sn-glycero-3-phosphocholine (lysophosphatidylcholine or LPC) reacylation and PC-CL transacylation, that means, it exchanges acyl groups between CL and PC by a combination of forward and reverse transacylations. Also catalyzes transacylations between other phospholipids such as phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine or PE) and CL, between PC and PE, and between PC and phosphatidate (1,2-diacyl-sn-glycero-3-phosphate or PA), although at lower rate. Not regiospecific, it transfers acyl groups into any of the sn-1 and sn-2 positions of the monolysocardiolipin (MLCL), which is an important prerequisite for uniformity and symmetry in CL acyl distribution. Cannot transacylate dilysocardiolipin (DLCL), thus, the role of MLCL is limited to that of an acyl acceptor. CoA-independent, it can reshuffle molecular species within a single phospholipid class. Redistributes fatty acids between MLCL, CL, and other lipids, which prolongs the half-life of CL. Its action is completely reversible, which allows for cyclic changes, such as fission and fusion or bending and flattening of the membrane. Hence, by contributing to the flexibility of the lipid composition, it plays an important role in the dynamics of mitochondria membranes. Essential for the final stage of spermatogenesis, spermatid individualization (By similarity). Required for the initiation of mitophagy (PubMed:33096711). Required to ensure progression of spermatocytes through meiosis (By similarity). Exon 7 of human tafazzin is essential for catalysis (PubMed:19700766)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; Catalytically inactive., [UniProtKB, PubMed, PubMed]; Catalyzes the transacylation between lysophosphatidate (such as 1-acyl-sn-glycero-3-phosphate) and phosphatidylglycerol (1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol)) (PubMed:19700766). Contributes to cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) remodeling (PubMed:12930833, PubMed:19700766)., [UniProtKB, PubMed, PubMed]; Catalyzes the transacylation between lysophospholipids and phospholipids, and plays a fundamental role in cardiolipin (1',3'-bis-[1,2-diacyl-sn-glycero-3-phospho]-glycerol or CL) metabolism and remodeling., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts 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": 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": 2, "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": "A3KQT2;D3DWX2;Q5HY43;Q5HY44;Q5HY45;Q5HY48;Q86XQ6;Q86XQ7;Q86XQ8;Q86XQ9;Q86XR0", "ec_number_list": [ { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0047184 1-acylglycerophosphocholine O-acyltransferase activity;GO:0008374 O-acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:2001171 positive regulation of ATP biosynthetic process;GO:1900210 positive regulation of cardiolipin metabolic process;GO:0035965 cardiolipin acyl-chain remodeling;GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q16635-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16650-1", "uniprot_id": [ { "id": "TBR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16650", "type": "external" } ], "mass": 74053.0, "length": 682, "protein_name": "T-box brain protein 1", "gene_name": "TBR1", "organism": "Human", "refseq_name": "T-box brain protein 1", "refseq_ac": [ { "id": "NP_006584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006584", "type": "external" } ], "gene_names_uniprotkb": "TBR1", "gene_names_refseq": "AUTS5; IDDAS; TBR-1; TBR1; TES-56", "protein_names_uniprotkb": "T-box brain protein 1; T-brain-1; TBR-1; TES-56", "protein_names_refseq": "T-box brain protein 1; T-box, brain 1; T-brain-1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); intellectual developmental disorder with autism and speech delay (MONDO:MONDO:0011627)", "pathway": " (hsa:10716)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;11719470;14593429;22495311;23160955;25232744;25356899;25363760;25418537;25418920;28657654;28832583;29242379;29393594;29632046;29786170;30250039;30268909;30379171;31154438;31848261;34625926;35051231;35944998;36579832;7619531", "class_list": "", "function": "Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development., [RefSeq, PubMed]; This gene is a member of a conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of numerous developmental processes. In mouse, the ortholog of this gene is expressed in the cerebral cortex, hippocampus, amygdala and olfactory bulb and is thought to play an important role in neuronal migration and axonal projection. In mouse, the C-terminal region of this protein was found to be necessary and sufficient for association with the guanylate kinase domain of calcium/calmodulin-dependent serine protein kinase. [provided by RefSeq, Dec 2015]., [RefSeq]; Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection (PubMed:25232744, PubMed:30250039). As transcriptional repressor of FEZF2, it blocks the formation of the corticospinal (CS) tract from layer 6 projection neurons, thereby restricting the origin of CS axons specifically to layer 5 neurons (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; [Identification of a novel TBR1 gene variant in a Chinese pedigree affected with intellectual developmental disorder with autism and speech delay]., [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": 2, "reported_glycation": 0, "reported_snv": 17, "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": "B0AZS4;B2R6G5;Q14DC5;Q53TH0;Q56A81", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase 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:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0001708 cell fate specification;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0021987 cerebral cortex development", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q16650-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1AE95-1", "uniprot_id": [ { "id": "T183B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1AE95", "type": "external" } ], "mass": 42940.0, "length": 376, "protein_name": "Putative transmembrane protein 183BP", "gene_name": "TMEM183BP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMEM183BP; C1orf37-dup; TMEM183B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transmembrane protein 183BP; Transmembrane protein 183B pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "16644869;27846572;27862975;29557506;30410026;31844290;32357974;32387766;32488085;33981976;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q1AE97", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q1AE95-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JU00-1", "uniprot_id": [ { "id": "DRC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JU00", "type": "external" } ], "mass": 55632.0, "length": 501, "protein_name": "Dynein regulatory complex subunit 5", "gene_name": "DRC5", "organism": "Human", "refseq_name": "dynein regulatory complex subunit 5", "refseq_ac": [ { "id": "NP_872345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872345", "type": "external" } ], "gene_names_uniprotkb": "DRC5; TCTE1", "gene_names_refseq": "D6S46; DRC5; FAP155; TCTE1", "protein_names_uniprotkb": "Dynein regulatory complex subunit 5; T-complex-associated testis-expressed protein 1; Tcte-1", "protein_names_refseq": "T-complex-associated testis-expressed protein 1; dynein regulatory complex subunit 5; t-complex-associated-testis-expressed 1; tcte-1", "tax_id": 9606, "disease": "male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:202500)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;19773279;28832583;30192525;31217245;32488085;33912179;33968037;34169321;35051231;35580925", "class_list": "", "function": "Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. May play a role in the assembly of N-DRC. May be required for sperm motility., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DX59;Q8IYS6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007018 microtubule-based movement;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5JU00-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3ZCM7-1", "uniprot_id": [ { "id": "TBB8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3ZCM7", "type": "external" } ], "mass": 49776.0, "length": 444, "protein_name": "Tubulin beta-8 chain", "gene_name": "TUBB8", "organism": "Human", "refseq_name": "tubulin beta-8 chain isoform 1", "refseq_ac": [ { "id": "NP_817124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_817124", "type": "external" } ], "gene_names_uniprotkb": "TUBB8", "gene_names_refseq": "OOMD2; OOMD; OZEMA2; TUBB8; bA631M21.2", "protein_names_uniprotkb": "Tubulin beta-8 chain; Tubulin beta 8 class VIII", "protein_names_refseq": "HSA10p15 beta-tubulin 4Q; tubulin beta-8 chain isoform 1; tubulin beta-8 chain", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); ptosis (Disease Ontology:DOID:0060260); complex cortical dysplasia with other brain malformations 7 (Disease Ontology:DOID:0090132); tubulinopathy (Disease Ontology:DOID:0112227); facial paralysis (Disease Ontology:DOID:13934); oocyte maturation defect 2 (MONDO:MONDO:0021573)", "pathway": " (hsa:347688); (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-437239); (R-HSA-5620920); (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": 27, "publication_count": 650, "publication_id_list": "10036229;10052452;10064083;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;10848580;10866685;10903204;10921873;10958683;11035033;11080672;11081627;11096080;11134010;11152499;11156368;11172815;11237011;11238103;11238927;11278865;11285137;11306556;11313968;11337501;11350938;11371342;11438540;11461920;11483508;11493604;11500375;11509732;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11731935;11739780;11748249;11751894;11781817;11782313;11790530;11813165;11853874;11909525;11939789;11948177;11956313;11985496;12024216;12047556;12070132;12078484;12082080;12110184;12149451;12194817;12198549;12231563;12368902;12388752;12397061;12401177;12429848;12432908;12447383;12577064;12634853;12679384;12732141;12742663;12748383;12781197;12805219;12852857;12857923;12882984;12925777;12942088;13486053;1373135;1406973;14504276;14585331;14654841;14675537;14730319;14731593;14742712;1493716;15006353;15029241;15037235;15085137;15159550;1520276;15229216;15272311;15299030;15326200;15339662;15381148;15483056;15507212;15536180;15591024;15591061;15616190;15632110;15664193;15723797;15728195;15737063;15737233;15749704;15752359;15813748;15864301;15866170;15878873;15890843;15907845;15911768;15914536;15919790;15944396;15971998;16030262;1607388;16140760;16179258;16179259;16181339;16207721;16242130;16262723;16292343;1631136;16314391;16330023;16371510;16373505;16403413;16431927;16439214;16541025;16571679;16600570;16618111;16622419;16622420;16633337;16682347;16717090;16723730;1680566;16824007;16880201;16890222;16901895;16912714;16926190;16940185;16943183;1695551;16982605;17030981;17079286;17084703;17112726;17113138;17113389;17129783;17142755;17196341;17196820;17198702;17200141;17244649;17244817;17244818;17253781;17274799;17283181;17346968;17360540;17360631;17369524;1737036;17429068;17451557;17488286;17499049;17538014;17591767;17760859;17785525;17804755;17827179;17846173;17855605;17927562;17956946;17995453;17997397;18001770;18046453;18086915;18096616;18097444;18180281;18182008;18203656;18215318;18237546;18243712;18254226;18283113;18287528;18292509;18331838;18342609;18478542;1850831;18524849;18535146;18635947;18641641;18664496;18716626;18809720;18835251;18923426;18957415;1898986;19013499;19015319;19079338;19081074;19109418;19116309;19151722;19164740;19229320;19252894;19278660;19296914;19338388;19350017;19359544;19369418;19416861;19524510;19531357;1956401;19564404;1957170;19631211;19635840;19682613;19696148;19710021;19733181;19737400;19753100;19758564;19804757;19815554;19823565;19838063;19965387;20005805;20006655;20018861;20030946;20038533;20072699;20101212;20136777;20357002;20395957;20420828;20427317;20462495;20519500;20519502;20534429;20577264;20591975;20603001;20631154;20637885;20685959;20701589;20829795;20837646;20937701;21068373;21072047;21074048;21111234;21116285;21123651;21148482;21158691;21173190;21183720;2121367;21219331;21294215;21299499;21376746;21397845;2142332;21441454;21454505;21454690;21518807;21550981;21576392;21636578;21689688;21690215;21700222;21730051;21796517;21844168;21868368;21878504;2190094;21907143;21937648;21978664;21987589;21994559;22011577;22013193;22094269;22094460;22130221;22174689;22214662;22266222;22275430;22304919;22318716;22433123;2247437;22562055;22608513;22790947;22791416;22885700;22944912;22986343;23071318;23084476;23222643;23229543;23236459;23333653;23358242;23396477;23515720;23732991;23783758;23801653;23839779;2391366;23921553;24012426;24097348;24119662;24200693;24347309;2448316;24623135;24659800;24694367;24715725;24753571;24806965;24891604;24906155;24914801;25103237;2521221;2522352;25233431;25364732;25436559;25453831;25468068;25492864;2550440;25576301;25653431;25740311;25789526;25848059;25957412;26040712;26040713;26073023;26203193;26313416;26432638;26446704;26488609;26572645;26716879;26789871;26817845;26875866;27208315;27269119;27273344;27423063;27462449;27501258;27663436;27974558;27989988;28069888;28083797;28167698;28242692;28281686;28301631;28415052;28755533;28765891;28904123;28919297;29146868;29170442;29175459;29231267;29242379;29348664;29393594;29394925;29395325;29440070;29501855;29508533;29557506;29786170;30174290;30197098;30360396;30513301;30590034;30761409;30770398;31031002;31110491;31141847;3130248;3134048;31409757;31731497;31826031;32016915;32093270;32316999;32320027;32448030;32502341;32544881;32716602;32801355;32897882;32982970;32983136;33141586;33298915;33592498;33808629;33911136;33912179;34019948;34174402;34211107;34260926;34357683;34509376;34974812;35051231;35138101;35154160;35580925;35685460;35947956;36712380;36735156;37127961;37217939;37597348;37672871;37904145;38007525;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;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;9150144;9177194;9199170;9202021;9244307;9288971;9311912;9312039;9323141;9368021;9380700;9382863;9405360;9427680;9442054;9464360;9464361;9490716;9497313;9521856;9528799;9539769;9545226;9606180;9649308;9649503;9651214;9667968;9671725;9671731;9687506;9694656;9721721;9733780;9737981;9751720;9819388;9844631;9864362;9892021;9920933;9990005", "class_list": "", "function": "9 novel TUBB8 mutations and phenotypes in patients with oocyte maturation arrest were reported., [RefSeq, PubMed]; A novel compound heterozygous mutation in TUBB8 causing early embryonic developmental arrest., [RefSeq, PubMed]; Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute., [RefSeq, PubMed]; Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos. Publication Status: Online-Only, [RefSeq, PubMed]; Phenotypic variability in two female siblings with oocyte maturation arrest due to a TUBB8 variant. Publication Status: Online-Only, [RefSeq, PubMed]; TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations., [RefSeq, PubMed]; TUBB8 mutations have dominant-negative effects that disrupt microtubule behavior and oocyte meiotic spindle assembly and maturation, causing female infertility., [RefSeq, PubMed]; The protein encoded by this gene represents the primary beta-tubulin subunit of oocytes and the early embryo. Defects in this gene, which is primate-specific, are a cause of oocyte maturation defect 2 and infertility. [provided by RefSeq, Mar 2016]., [RefSeq]; The results not only emphasize the important role of TUBB8 in oocyte maturation, fertilization and early embryonic development but they also provide a basis for determining the genetic variations in TUBB8 as a potential additional criterion for evaluating the quality of patients' functional PB1 oocytes., [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, 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SQX9;Q8WZ78", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005200 structural constituent of cytoskeleton;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0097229 sperm end piece;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0070062 extracellular exosome", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0001556 oocyte maturation;GO:0000226 microtubule cytoskeleton organization;GO:0007056 spindle assembly involved in female meiosis;GO:0007017 microtubule-based process", "synthesized_glycan_count": 0, "hit_score": 65.3, "record_id": "Q3ZCM7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T4T6-1", "uniprot_id": [ { "id": "SYC2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T4T6", "type": "external" } ], "mass": 93599.0, "length": 812, "protein_name": "Synaptonemal complex protein 2-like", "gene_name": "SYCP2L", "organism": "Human", "refseq_name": "synaptonemal complex protein 2-like", "refseq_ac": [ { "id": "NP_001035364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035364", "type": "external" } ], "gene_names_uniprotkb": "SYCP2L; C6orf177; NO145", "gene_names_refseq": "C6orf177; NO145; POF24; SYCP2L; dJ62D2.1", "protein_names_uniprotkb": "Synaptonemal complex protein 2-like; 145 kDa nucleolar protein homolog; SCP-2-like; hsNO145", "protein_names_refseq": "145 kDa nucleolar protein homolog; SCP-2-like; synaptonemal complex protein 2-like", "tax_id": 9606, "disease": "premature ovarian failure 24 (MONDO:MONDO:0970995)", "pathway": " (hsa:221711)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;17374641;19448621;23033978;26362258;26992070;32303603;32350084;32983136;33968037;34087483;37417852", "class_list": "", "function": "Homozygous variants in SYCP2L cause premature ovarian insufficiency., [RefSeq, PubMed]; Involvement of SYCP2L and TDRD3 gene variants on ovarian reserve and reproductive outcomes: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Oocyte-specific protein that localizes to centromeres at the dictyate stage and regulates the survival of primordial oocytes., [UniProtKB, UniProtKB]; We find that a human SYCP2L intronic single nucleotide polymorphism (SNP) rs2153157, which is associated with ANM, changes the splicing efficiency of U12-type minor 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NDS5;Q08GK5;Q6ZRM2;Q96EJ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000779 condensed chromosome, centromeric region;GO:0000800 lateral element", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5T4T6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWI1-1", "uniprot_id": [ { "id": "TCRGL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWI1", "type": "external" } ], "mass": 65660.0, "length": 586, "protein_name": "Transcription elongation regulator 1-like protein", "gene_name": "TCERG1L", "organism": "Human", "refseq_name": "transcription elongation regulator 1-like protein", "refseq_ac": [ { "id": "NP_777597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777597", "type": "external" } ], "gene_names_uniprotkb": "TCERG1L", "gene_names_refseq": "TCERG1L", "protein_names_uniprotkb": "Transcription elongation regulator 1-like protein", "protein_names_refseq": "5730476P14Rik; transcription elongation regulator 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:256536)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "16385451;16959974;20068231;20732627;22791750;29393594;29557506;32161166;35051231;36010968;38253038", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TCERG1L is associated with plasma adiponectin, a key modulator of obesity, inflammation, IR and diabetes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VWI2;Q86XM8", "ec_number_list": [], "go_molecular_function": "GO:0070063 RNA polymerase binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q5VWI1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VXT5-1", "uniprot_id": [ { "id": "SYPL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VXT5", "type": "external" } ], "mass": 30156.0, "length": 272, "protein_name": "Synaptophysin-like protein 2", "gene_name": "SYPL2", "organism": "Human", "refseq_name": "synaptophysin-like protein 2", "refseq_ac": [ { "id": "NP_001035799", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035799", "type": "external" } ], "gene_names_uniprotkb": "SYPL2", "gene_names_refseq": "MG29; SYPL2", "protein_names_uniprotkb": "Synaptophysin-like protein 2", "protein_names_refseq": "mitsugumin 29; synaptophysin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:284612)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "22290180;25406998;29393594;30524438", "class_list": "", "function": "Involved in communication between the T-tubular and junctional sarcoplasmic reticulum (SR) membranes., [UniProtKB]; Mitsugumin (MG)29 is expressed in astrocytes of Alzheimer disease brains associated with senile plaques, but is is not expressed in neurons around lesions., [RefSeq, PubMed]; SYPL2 is a susceptibility gene for morbid obesity., [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": 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": "A8K0E8;A8KAL7;I0IT67;Q6ZMX1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0021762 substantia nigra development", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VXT5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NXT6-1", "uniprot_id": [ { "id": "TAPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NXT6", "type": "external" } ], "mass": 64260.0, "length": 567, "protein_name": "Transmembrane anterior posterior transformation protein 1 homolog", "gene_name": "TAPT1", "organism": "Human", "refseq_name": "transmembrane anterior posterior transformation protein 1 homolog", "refseq_ac": [ { "id": "NP_699196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699196", "type": "external" } ], "gene_names_uniprotkb": "TAPT1; CMVFR", "gene_names_refseq": "CMVFR; OCLSBG; TAPT1", "protein_names_uniprotkb": "Transmembrane anterior posterior transformation protein 1 homolog; Cytomegalovirus partial fusion receptor", "protein_names_refseq": "cytomegalovirus partial fusion receptor; transmembrane anterior posterior transformation protein 1 homolog", "tax_id": 9606, "disease": "complex lethal osteochondrodysplasia (MONDO:MONDO:0014821)", "pathway": " (hsa:202018)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10640539;11237011;16303743;17151244;18669648;23481700;23783831;24275569;24714562;24715725;25576301;25810538;25892735;26154972;26365339;26992070;27397612;27600516;27862975;28218747;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29769354;29789417;30429286;30524438;31217245;31844290;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33936100;33968037;33981976;34171305;34211107;34509645;34932366;35051231;35580925;36370851;36652330;37292039;37938771", "class_list": "", "function": "(Microbial infection) In case of infection, may act as a fusion receptor for cytomegalovirus (HCMV) strain AD169., [UniProtKB, PubMed]; A perinatal lethal mutation in mouse Tapt1 results in homeotic, posterior-to-anterior transformations of the axial skeleton., [RefSeq, PubMed]; A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing., [RefSeq, PubMed]; Plays a role in primary cilia formation (PubMed:26365339). May act as a downstream effector of HOXC8 possibly by transducing or transmitting extracellular information required for axial skeletal patterning during development (By similarity). May be involved in cartilage and bone development (By similarity). May play a role in the differentiation of cranial neural crest cells (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta., [RefSeq, PubMed]; This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]., [RefSeq]; Transmembrane anterior posterior transformation 1 regulates BMP signaling and modulates the protein stability of SMAD1/5. Erratum:[J Biol Chem. 2023 Jul;299(7):104957. doi: 10.1016/j.jbc.2023.104957. PMID: 37393648], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N2S3;Q9NZK9", "ec_number_list": [], "go_molecular_function": "GO:0016520 growth hormone-releasing hormone receptor activity", "go_cellular_component": "GO:0005813 centrosome;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0036064 ciliary basal body", "go_biological_process": "GO:1903012 positive regulation of bone development;GO:0014032 neural crest cell development;GO:0001503 ossification;GO:0030030 cell projection organization;GO:0051216 cartilage development", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q6NXT6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTU1-1", "uniprot_id": [ { "id": "TCF23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTU1", "type": "external" } ], "mass": 23309.0, "length": 214, "protein_name": "Transcription factor 23", "gene_name": "TCF23", "organism": "Human", "refseq_name": "transcription factor 23", "refseq_ac": [ { "id": "NP_786951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_786951", "type": "external" } ], "gene_names_uniprotkb": "TCF23; BHLHA24", "gene_names_refseq": "OUT; TCF-23; TCF23; bHLHa24", "protein_names_uniprotkb": "Transcription factor 23; Class A basic helix-loop-helix protein 24; TCF-23; bHLHa24", "protein_names_refseq": "class A basic helix-loop-helix protein 24; class II basic helix-loop-helix protein TCF23; transcription factor 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:150921)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10652346;14516699;24571987;29557506;32387766;34509645;35051231", "class_list": "", "function": "Inhibits E-box-mediated binding and transactivation of bHLH factors. Inhibitory effect is similar to that of ID proteins. Inhibits the formation of TCF3 and MYOD1 homodimers and heterodimers. Lacks DNA binding activity. Seems to play a role in the inhibition of myogenesis (By similarity)., [UniProtKB]; Study of the orthologous gene in mouse shows the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex., [RefSeq, PubMed]; The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010]., [RefSeq]; Transcription factor 23 (Tcf23), a basic-helix-loop-helix transcription factor, is a new progesterone-induced target gene that requires SRC-2 for full induction. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RNZ3", "ec_number_list": [], "go_molecular_function": "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:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0140416 transcription regulator inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0000791 euchromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7RTU1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VY9-1", "uniprot_id": [ { "id": "T200A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VY9", "type": "external" } ], "mass": 54356.0, "length": 491, "protein_name": "Transmembrane protein 200A", "gene_name": "TMEM200A", "organism": "Human", "refseq_name": "transmembrane protein 200A", "refseq_ac": [ { "id": "NP_001245205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245205", "type": "external" } ], "gene_names_uniprotkb": "TMEM200A; HBE61; KIAA1913", "gene_names_refseq": "KIAA1913; TMEM200A; TTMA; TTMC", "protein_names_uniprotkb": "Transmembrane protein 200A", "protein_names_refseq": "transmembrane protein 200A; two transmembrane C", "tax_id": 9606, "disease": "", "pathway": " (hsa:114801)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "16000565;18578522;21406692;23481700;24715725;25576301;26154972;28228285;28467828;28832583;28871256;29242379;29557506;30784271;31092671;31217245;31844290;31848261;31937595;31998317;32350084;32387766;33141586;34211107;34357683;34561969;35051231;35154160;37404478", "class_list": "", "function": "TMEM200A is a potential prognostic biomarker and correlated with immune infiltrates in gastric 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96PX5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q86VY9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW70-1", "uniprot_id": [ { "id": "T151B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW70", "type": "external" } ], "mass": 61506.0, "length": 566, "protein_name": "Transmembrane protein 151B", "gene_name": "TMEM151B", "organism": "Human", "refseq_name": "transmembrane protein 151B", "refseq_ac": [ { "id": "NP_001131032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131032", "type": "external" } ], "gene_names_uniprotkb": "TMEM151B; C6orf137; TMEM193", "gene_names_refseq": "C6orf137; TMEM151B; TMEM193; bA444E17.5", "protein_names_uniprotkb": "Transmembrane protein 151B; Transmembrane protein 193", "protein_names_refseq": "transmembrane protein 151B; transmembrane protein 193", "tax_id": 9606, "disease": "", "pathway": " (hsa:441151)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "19773279;22299025;29557506;35051231;36010968;39894887", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q5T9V7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8IW70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVE7-1", "uniprot_id": [ { "id": "T170A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVE7", "type": "external" } ], "mass": 15250.0, "length": 144, "protein_name": "Transmembrane protein 170A", "gene_name": "TMEM170A", "organism": "Human", "refseq_name": "transmembrane protein 170A isoform 2", "refseq_ac": [ { "id": "NP_001291925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291925", "type": "external" } ], "gene_names_uniprotkb": "TMEM170A; TMEM170", "gene_names_refseq": "TMEM170A; TMEM170", "protein_names_uniprotkb": "Transmembrane protein 170A", "protein_names_refseq": "transmembrane protein 170A isoform 2; transmembrane protein 170", "tax_id": 9606, "disease": "", "pathway": " (hsa:124491)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;19844255;23152477;24715725;26906412;27846572;28832583;29242379;29632711;31844290;32157095;32387766;33298915;33717175;33912179;34357683;35051231", "class_list": "", "function": "Acts as a regulator of endoplasmic reticulum (ER) and nuclear envelope (NE) morphogenesis. Affects the ratio between tubular ER and ER sheets by promoting sheet formation at the expense of tubules. Influences NE expansion, nuclear pore complex formation and proper localization of inner nuclear membrane proteins (PubMed:26906412)., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This paper shows that that downregulation of TMEM170A specifically induces tubular endoplasmic reticulum formation, whereas overexpression of TMEM170A induces endoplasmic reticulum sheet formation., [RefSeq, PubMed]; This study identified rs4888378 in the BCAR1-CFDP1-TMEM170A locus as a novel genetic determinant of carotid intima-media thickness and coronary artery disease risk., [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": 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": "B2R4R3;B4DPS4;D3DUK2;Q7Z6F3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0006998 nuclear envelope organization;GO:0051292 nuclear pore complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8WVE7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVM0-1", "uniprot_id": [ { "id": "TFB1M_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVM0", "type": "external" } ], "mass": 39543.0, "length": 346, "protein_name": "Dimethyladenosine transferase 1, mitochondrial", "gene_name": "TFB1M", "organism": "Human", "refseq_name": "dimethyladenosine transferase 1, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_057104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057104", "type": "external" } ], "gene_names_uniprotkb": "TFB1M; CGI-75", "gene_names_refseq": "CGI-75; CGI75; TFB1M; mtTFB1; mtTFB", "protein_names_uniprotkb": "Dimethyladenosine transferase 1, mitochondrial; 2.1.1.-; Mitochondrial 12S rRNA dimethylase 1; Mitochondrial transcription factor B1; S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1; h-mtTFB1; h-mtTFB; hTFB1M; mtTFB1", "protein_names_refseq": "S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1; dimethyladenosine transferase 1, mitochondrial isoform 1; dimethyladenosine transferase 1, mitochondrial; h-mtTFB1; hTFB1M; homolog of yeast mitochondrial transcription factor B; mitochondrial 12S rRNA dimethylase 1; mitochondrial dimethyladenosine transferase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51106); (R-HSA-2151201); (R-HSA-6793080)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10412986;10643692;10713165;11340167;11809803;12068295;12374852;12496758;12563009;12745923;12897151;15110318;15684387;16079181;16079853;16788062;16890199;16908542;16911507;17031457;17437997;17715127;17923681;18215119;18343819;18680753;19001277;19096125;19356719;19417006;19951946;20068231;21531335;22341444;22949673;23022348;23303773;23804760;24036117;24715725;24916378;25009282;25074936;25305075;25418920;25576301;25645385;26154972;26464487;26811146;26992070;27667664;27846572;27974379;28082677;28218747;28228285;28510447;28832583;28834231;29242379;29393594;29437277;29508533;29557506;30315122;30379171;30429286;31154438;31251801;31844290;32157095;32502341;33298915;33592498;33717175;33968037;34357683;34561969;35051231;35580925;36482135;39894887;7629110;7799916;8108407;8333869;9178750;9286700", "class_list": "", "function": "Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop, [RefSeq, PubMed]; Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes., [RefSeq, PubMed]; Mitochondrial methyltransferase which uses S-adenosyl methionine to dimethylate two highly conserved adjacent adenosine residues (A1583 and A1584) within the loop of helix 45 at the 3-prime end of 12S rRNA, thereby regulating the assembly or stability of the small subunit of the mitochondrial ribosome (PubMed:12496758, PubMed:25305075, PubMed:31251801). Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity (PubMed:11809803, PubMed:12068295, PubMed:12897151)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TFB1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity, [RefSeq, PubMed]; The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]., [RefSeq]; The suppression of transcription factor B1, mitochondrial protein (hsTFB1M) protein level or the overexpression of inactive hsTFB1M mutants resulted in decreased ATP production., [RefSeq, PubMed]; This transcription factor activates transcription of human mitochondrial DNA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 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": "Q05DR0;Q9Y384", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:1904047 S-adenosyl-L-methionine binding;GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity;GO:0034246 mitochondrial transcription factor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid", "go_biological_process": "GO:0031167 rRNA methylation;GO:0000154 rRNA modification;GO:0006391 transcription initiation at mitochondrial promoter;GO:0180026 mitochondrial small ribosomal subunit assembly", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q8WVM0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A25-1", "uniprot_id": [ { "id": "T106A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A25", "type": "external" } ], "mass": 28920.0, "length": 262, "protein_name": "Transmembrane protein 106A", "gene_name": "TMEM106A", "organism": "Human", "refseq_name": "transmembrane protein 106A isoform a", "refseq_ac": [ { "id": "NP_001278515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278515", "type": "external" } ], "gene_names_uniprotkb": "TMEM106A", "gene_names_refseq": "TMEM106A", "protein_names_uniprotkb": "Transmembrane protein 106A", "protein_names_refseq": "transmembrane protein 106A isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:113277)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;24975047;26992070;27862975;27920218;28228285;28832583;29131025;29242379;29557506;30315122;30429286;30456879;30573663;31154438;31530632;31844290;31848261;32157095;32350084;32357974;32488085;32938616;32983136;33043033;33298915;33592498;33968037;35580925", "class_list": "", "function": "Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway. Upon activation, up-regulates the expression of CD80, CD86, CD69 and MHC II on macrophages, and induces the release of pro-inflammatory cytokines such as TNF, IL1B, IL6, CCL2 and nitric oxide (By similarity). May play a role in inhibition of proliferation and migration (PubMed:29131025, PubMed:30456879)., [UniProtKB, PubMed, UniProtKB, PubMed]; Low TMEM106A expression is associated with gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K2X2;B7Z698", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0045087 innate immune response;GO:0042116 macrophage activation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q96A25-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BW9-1", "uniprot_id": [ { "id": "TAM41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BW9", "type": "external" } ], "mass": 51067.0, "length": 452, "protein_name": "Phosphatidate cytidylyltransferase, mitochondrial", "gene_name": "TAMM41", "organism": "Human", "refseq_name": "phosphatidate cytidylyltransferase, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_001271330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271330", "type": "external" } ], "gene_names_uniprotkb": "TAMM41; C3orf31", "gene_names_refseq": "C3orf31; COXPD56; RAM41; TAM41; TAMM41", "protein_names_uniprotkb": "Phosphatidate cytidylyltransferase, mitochondrial; 2.7.7.41; CDP-DAG synthase; CDP-diacylglycerol synthase; Mitochondrial translocator assembly and maintenance protein 41 homolog; TAM41", "protein_names_refseq": "CDP-DAG synthase; CDP-diacylglycerol synthase; MMP37-like protein, mitochondrial; TAM41, mitochondrial translocator assembly and maintenance protein, homolog; mitochondrial translocator assembly and maintenance protein 41 homolog; phosphatidate cytidylyltransferase, mitochondrial isoform a precursor; phosphatidate cytidylyltransferase, mitochondrial", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 56 (Disease Ontology:DOID:0070429); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:132001)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;22223895;25892735;26992070;28510447;28904123;31217245;31844290;32157095;32938616;33298915;33592498;34152079;34561969;35321494;35580925", "class_list": "", "function": "Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease., [RefSeq, PubMed]; Catalyzes the conversion of phosphatidic acid (PA) to CDP-diacylglycerol (CDP-DAG), an essential intermediate in the synthesis of phosphatidylglycerol, cardiolipin and phosphatidylinositol., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DIY7;C9J2U4", "ec_number_list": [ { "id": "2.7.7.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.41", "type": "external" } ], "go_molecular_function": "GO:0004605 phosphatidate cytidylyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0016024 CDP-diacylglycerol biosynthetic process;GO:0032049 cardiolipin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96BW9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GW9-1", "uniprot_id": [ { "id": "SYMM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GW9", "type": "external" } ], "mass": 66591.0, "length": 593, "protein_name": "Methionine--tRNA ligase, mitochondrial", "gene_name": "MARS2", "organism": "Human", "refseq_name": "methionine--tRNA ligase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_612404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612404", "type": "external" } ], "gene_names_uniprotkb": "MARS2", "gene_names_refseq": "COXPD25; MARS2; MetRS; mtMetRS", "protein_names_uniprotkb": "Methionine--tRNA ligase, mitochondrial; 6.1.1.10; Methionyl-tRNA synthetase 2; Mitochondrial methionyl-tRNA synthetase; MtMetRS", "protein_names_refseq": "methionine tRNA ligase 2, mitochondrial; methionine--tRNA ligase 2; methionine--tRNA ligase, mitochondrial precursor; methionine-tRNA synthetase 2, mitochondrial", "tax_id": 9606, "disease": "spastic ataxia 3 (Disease Ontology:DOID:0050942); combined oxidative phosphorylation deficiency 25 (Disease Ontology:DOID:0111468); neurodegenerative disease (Disease Ontology:DOID:1289); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:92935); (R-HSA-379726)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10329163;10684970;10764807;10828066;12690580;15274629;15779907;16300924;17384640;17847012;20877624;22448145;24397554;25576301;25754315;26754738;26811146;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29557506;29632046;30315122;30410026;31154438;31844290;31848261;32357974;32983136;33298915;33537174;33592498;33912179;33968037;34171305;34273914;34357683;34561969;35580925;36284347;40596516;7755634;8078941;9278442;9466989", "class_list": "", "function": "Increased Mars2 expression upon microRNA-4661-5p-mediated KDM5D downregulation is correlated with malignant degree of gastric cancer cells., [RefSeq, PubMed]; MARS2 is mutated in Autosomal Recessive Spastic Ataxia with Leukoencephalopathy patients., [RefSeq, PubMed]; Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Sequence analysis of mitochondrial MetRS indicates that this protein contains consensus motifs characteristic of class I aminoacyl-tRNA synthetase but lacks Zn2+ binding motif and C-terminal dimerization region found in MetRSs from various organisms., [RefSeq, PubMed]; This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AVC3;Q76E79;Q8IW62;Q8N7N4", "ec_number_list": [ { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004825 methionine-tRNA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006418 tRNA aminoacylation for protein translation;GO:0006431 methionyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q96GW9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RI8-1", "uniprot_id": [ { "id": "TAAR6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RI8", "type": "external" } ], "mass": 38451.0, "length": 345, "protein_name": "Trace amine-associated receptor 6", "gene_name": "TAAR6", "organism": "Human", "refseq_name": "trace amine-associated receptor 6", "refseq_ac": [ { "id": "NP_778237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_778237", "type": "external" } ], "gene_names_uniprotkb": "TAAR6; TA4; TAR4; TRAR4", "gene_names_refseq": "TA4; TAAR6; TAR4; TAR6; TRAR4; taR-4; taR-6", "protein_names_uniprotkb": "Trace amine-associated receptor 6; TaR-4; TaR-6; Trace amine receptor 4; Trace amine receptor 6", "protein_names_refseq": "trace amine receptor 4; trace amine receptor 6; trace amine-associated receptor 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:319100); (R-HSA-375280); (R-HSA-418555)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "11007482;11459929;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15329799;15765929;15769620;15951850;16075187;16313925;16687412;16923326;17168849;17218486;18044684;18577758;18828673;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;24715725;2491850;2553411;2553705;25919112;26417854;2871555;29443750;29602314;30484775;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;35008636;35051231;36139098;37225986;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Among the 15 SNPs and seven haplotypes of TAAR6, rs7772821 (T>G) on the 3'-UTR showed the strongest correlation with inhaled corticosteroid-induced %DeltaFEV1 in asthmatics., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Olfactory receptor specific for trace amines, such as beta-phenylethylamine (beta-PEA). 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. Beta-PEA-binding causes a conformation change that triggers signaling via G(s)-class of G alpha proteins (GNAL or GNAS)., [UniProtKB, UniProtKB]; Public Transcriptomic Data Meta-Analysis Demonstrates TAAR6 Expression in the Mental Disorder-Related Brain Areas in Human and Mouse Brain. Publication Status: Online-Only, [RefSeq, PubMed]; Search for Structural Basis of Interactions of Biogenic Amines with Human TAAR1 and TAAR6 Receptors. Publication Status: Online-Only, [RefSeq, PubMed]; TRAR4 is preferentially expressed in those brain regions that have been implicated in the pathophysiology of schizophrenia., [RefSeq, PubMed]; This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]., [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": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUQ4", "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;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96RI8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVV6-1", "uniprot_id": [ { "id": "TALD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVV6", "type": "external" } ], "mass": 169307.0, "length": 1533, "protein_name": "Protein TALPID3", "gene_name": "KIAA0586", "organism": "Human", "refseq_name": "protein TALPID3 isoform 1", "refseq_ac": [ { "id": "NP_001231118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231118", "type": "external" } ], "gene_names_uniprotkb": "KIAA0586; TALPID3", "gene_names_refseq": "JBTS23; KIAA0586; SRTD14; Talpid3", "protein_names_uniprotkb": "Protein TALPID3", "protein_names_refseq": "protein TALPID3 isoform 1; protein TALPID3", "tax_id": 9606, "disease": "short-rib thoracic dysplasia 14 with polydactyly (Disease Ontology:DOID:0110096); Joubert syndrome 23 (Disease Ontology:DOID:0110992)", "pathway": " (hsa:9786)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16702409;19144723;23186163;24421332;25576301;26026149;26096313;26166481;26386044;26429889;26811146;26992070;27846572;28904123;29493099;31154438;31217245;31326647;31530632;31844290;32157095;32161166;32265295;32357974;32381069;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33326788;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34509645;35051231;35580925;36010968;36538006;36581221", "class_list": "", "function": "Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis., [RefSeq, PubMed]; Loss of KIAA0586 protein (TALPID3) function can cause both severe lethal and mild cilia-related developmental disorders [Review] Review article, [RefSeq, PubMed]; Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a, [RefSeq, PubMed]; Talpid3-Mediated Centrosome Integrity Restrains Neural Progenitor Delamination to Sustain Neurogenesis by Stabilizing Adherens Junctions., [RefSeq, PubMed]; The chicken ortholog functions in regulation of the Gli repressor and activator proteins in the Hedgehog signaling pathway., [RefSeq, PubMed]; This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]., [RefSeq]; This lead to the identification of the most common variant detected in patients with JBTS23 (OMIM# 616490), rs534542684, in compound heterozygosity with a 8.3 kb deletion in KIAA0586, not previously reported. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DZB6;E7EWM8;J3KQH9;O60328;Q6NYC6;Q6UV20", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0001917 photoreceptor inner segment;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:0070201 regulation of establishment of protein localization", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BVV6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0C2-1", "uniprot_id": [ { "id": "TB182_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0C2", "type": "external" } ], "mass": 181796.0, "length": 1729, "protein_name": "182 kDa tankyrase-1-binding protein", "gene_name": "TNKS1BP1", "organism": "Human", "refseq_name": "182 kDa tankyrase-1-binding protein", "refseq_ac": [ { "id": "NP_203754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_203754", "type": "external" } ], "gene_names_uniprotkb": "TNKS1BP1; KIAA1741; TAB182", "gene_names_refseq": "CNOT12; TAB182; TNKS1BP1", "protein_names_uniprotkb": "182 kDa tankyrase-1-binding protein", "protein_names_refseq": "182 kDa tankyrase-1-binding protein; tankyrase 1 binding protein 1, 182kDa; tankyrase 1-binding protein of 182 kDa; testis secretory sperm-binding protein Li 206a", "tax_id": 9606, "disease": "", "pathway": " (hsa:85456); (R-HSA-429947); (R-HSA-6804115); (R-HSA-9820841)", "pathway_count": 4, "publication_count": 131, "publication_id_list": "10637334;10882133;11237011;11283721;11814693;11854288;11889047;11896574;12080061;12897130;1355481;14583602;14749774;14968113;15302935;15475613;15713436;16140933;16141059;16160013;16284618;16964243;17052452;17081983;17146433;17245413;17322306;17487921;17525332;17595167;17924679;18077418;18212344;18220336;18318008;18337750;18452278;18625844;18669648;18691976;18707149;18767875;19239894;19276069;19369195;19413330;19415658;19558367;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;20352051;20531387;21406692;22028470;22252318;23186163;23236473;23301498;23481700;23783831;24129315;24275569;24714562;24715725;25480299;25576301;25645385;26154972;26375851;26728094;27600516;27846572;27862975;28411811;28657654;29242379;29331515;29393594;29508533;29557506;29786170;30397120;30429286;30620550;31154438;31373491;31637018;31844290;31848261;32157095;32488085;32502341;32502391;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33936100;33968037;33981976;34019948;34171305;34211107;34647228;34932366;35051231;35254053;35318648;35580925;36010968;36284347;36289198;36689051;37938771;37953246;38665916;40596516;8944033;9099687;9184226;9671765;9712883", "class_list": "", "function": "Downregulation of TAB182 promotes cancer stem-like cell properties and therapeutic resistance in triple-negative breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a tankyrase-binding motif in this protein., [RefSeq, PubMed]; Silencing TAB182 inhibits cell EMT, migration and invasion by downregulating EGFR in A549 NSCLC cells., [RefSeq, PubMed]; TAB182 aggravates progression of esophageal squamous cell carcinoma by enhancing beta-catenin nuclear translocation through FHL2 dependent manner. Erratum:[Cell Death Dis. 2023 Apr 14;14(4):270. doi: 10.1038/s41419-023-05799-9. PMID: 37059707] Publication Status: Online-Only, [RefSeq, PubMed]; The telomeric poly(ADP-ribose) polymerase, tankyrase 1, contains multiple binding sites for telomeric repeat binding factor 1 (TRF1) and a novel acceptor, 182-kDa tankyrase-binding protein (TAB182)., [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": 112, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A7E2F8;Q6PJ35;Q6ZV74", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0045296 cadherin binding;GO:0044877 protein-containing complex binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0071532 ankyrin repeat binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005912 adherens junction", "go_biological_process": "GO:0006302 double-strand break repair;GO:0071479 cellular response to ionizing radiation;GO:0007004 telomere maintenance via telomerase;GO:0000289 nuclear-transcribed mRNA poly(A) tail shortening", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9C0C2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0D5-1", "uniprot_id": [ { "id": "TANC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0D5", "type": "external" } ], "mass": 202219.0, "length": 1861, "protein_name": "Protein TANC1", "gene_name": "TANC1", "organism": "Human", "refseq_name": "protein TANC1 isoform 2", "refseq_ac": [ { "id": "NP_001139381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139381", "type": "external" } ], "gene_names_uniprotkb": "TANC1; KIAA1728", "gene_names_refseq": "ROLSB; TANC1; TANC", "protein_names_uniprotkb": "Protein TANC1; Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1", "protein_names_refseq": "TPR domain, ankyrin-repeat and coiled-coil-containing; protein TANC1 isoform 2; protein TANC1; rolling pebbles homolog B; tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 1", "tax_id": 9606, "disease": "intellectual developmental disorder with autistic features and language delay, with or without seizures (Disease Ontology:DOID:0081430)", "pathway": " (hsa:85461)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "15673434;17081983;18220336;18669648;18930710;20068231;22028470;23186163;23481700;24715725;25576301;25645385;25802875;25880248;25892735;26375851;26992070;27846572;27862975;28904123;29237092;29437277;29557506;30059200;30315122;30379171;30410026;30429286;30620550;30779550;31040020;31092671;31154438;31217245;31222486;31492838;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32938616;33141586;33298915;33537174;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34465797;34509645;35051231;35254053;35289036;35580925;36010968;36215666;36241641;36284347;38253038;39302247;39531497", "class_list": "", "function": "Discusses cloning and expression of Rat TANC1 and preliminary cloning of human TANC1, which resulted in recovery of a partial cDNA. Erratum:[Eur J Neurosci. 2005 Feb;21(3):825. Usada, Nobuteru [corrected to Usuda, Nobuteru]], [RefSeq, PubMed]; May be a scaffold component in the postsynaptic density., [UniProtKB]; Mis-sense variants tested in this study may either affect protein folding or disrupt the interaction between TANC1/2 AR domains and their binding partners, [RefSeq, PubMed]; TANC1 methylation as a novel biomarker for the diagnosis of patients with anti-tuberculosis drug-induced liver injury. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "C9JD88;Q49AI8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0043679 axon terminus;GO:0099092 postsynaptic density, intracellular component", "go_biological_process": "GO:0099175 regulation of postsynapse organization", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9C0D5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0A3-1", "uniprot_id": [ { "id": "T191A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0A3", "type": "external" } ], "mass": 17963.0, "length": 160, "protein_name": "Transmembrane protein 191A", "gene_name": "TMEM191A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMEM191A", "gene_names_refseq": "", "protein_names_uniprotkb": "Transmembrane protein 191A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11230166", "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": "B2R8E2", "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": "Q9H0A3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3H9-1", "uniprot_id": [ { "id": "TCAL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3H9", "type": "external" } ], "mass": 25850.0, "length": 227, "protein_name": "Transcription elongation factor A protein-like 2", "gene_name": "TCEAL2", "organism": "Human", "refseq_name": "transcription elongation factor A protein-like 2", "refseq_ac": [ { "id": "NP_525129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_525129", "type": "external" } ], "gene_names_uniprotkb": "TCEAL2; MY0876G0; My048", "gene_names_refseq": "MY0876G05; TCEAL2; WEX1; my048", "protein_names_uniprotkb": "Transcription elongation factor A protein-like 2; TCEA-like protein 2; Transcription elongation factor S-II protein-like 2", "protein_names_refseq": "TCEA-like protein 2; transcription elongation factor A (SII)-like 2; transcription elongation factor A protein-like 2; transcription elongation factor S-II protein-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:140597)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "10051408;29557506", "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. [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": 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": "B2R5C7", "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": 0.3, "record_id": "Q9H3H9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7F4-1", "uniprot_id": [ { "id": "T185B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7F4", "type": "external" } ], "mass": 40599.0, "length": 350, "protein_name": "Transmembrane protein 185B", "gene_name": "TMEM185B", "organism": "Human", "refseq_name": "transmembrane protein 185B", "refseq_ac": [ { "id": "NP_077026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077026", "type": "external" } ], "gene_names_uniprotkb": "TMEM185B; FAM11B", "gene_names_refseq": "FAM11B; TMEM185B", "protein_names_uniprotkb": "Transmembrane protein 185B; Protein FAM11B", "protein_names_refseq": "ee3_2; family with sequence similarity 11, member B; putative transmembrane protein 185B; transmembrane protein 185B (pseudogene); transmembrane protein 185B", "tax_id": 9606, "disease": "", "pathway": " (hsa:79134)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "15525354;29557506;31611695;32938616;33592498;33912179;33936100;33968037;34087483;34171305;34357683;35251023;36241641", "class_list": "", "function": "The mouse ee3 is an orphan G-protein-coupled receptor with potential connections to erythropoietin and 5HT2a receptor signalling. ee3_2, a similar gene, is also described, along with human orthologs., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K1G5;Q53T33;Q66K44;Q8IZ77", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9H7F4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H987-1", "uniprot_id": [ { "id": "SYP2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H987", "type": "external" } ], "mass": 102481.0, "length": 977, "protein_name": "Synaptopodin 2-like protein", "gene_name": "SYNPO2L", "organism": "Human", "refseq_name": "synaptopodin 2-like protein isoform a", "refseq_ac": [ { "id": "NP_001107605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107605", "type": "external" } ], "gene_names_uniprotkb": "SYNPO2L", "gene_names_refseq": "CHAP; SYNPO2L", "protein_names_uniprotkb": "Synaptopodin 2-like protein", "protein_names_refseq": "synaptopodin 2-like protein isoform a; synaptopodin 2-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79933)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16385451;23271734;23481700;25418920;26154972;27589061;27920218;28228285;29557506;29786170;30315122;31217245;31844290;34561969;35051231;38665916;39247832", "class_list": "", "function": "Actin-associated protein that may play a role in modulating actin-based shape., [UniProtKB]; METTL16 Promotes Stability of SYNPO2L mRNA and leading to Cancer Cell Lung Metastasis by Secretion of COL10A1 and attract the Cancer-Associated Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; We did not observe associations between coding genetic variants and Atrial fibrillation (AF), suggesting that large-effect coding variation is not the predominant mechanism underlying AF. A coding variant in SYNPO2L requires further evaluation to determine whether it is causally related to AF Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 0, "predicted_o_glycosites": 7, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "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": "A5PKV9;Q68A20", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0015629 actin cytoskeleton;GO:0030018 Z disc;GO:0005737 cytoplasm;GO:0043226 organelle", "go_biological_process": "GO:0032233 positive regulation of actin filament bundle assembly;GO:0051496 positive regulation of stress fiber assembly;GO:0003007 heart morphogenesis;GO:0035025 positive regulation of Rho protein signal transduction;GO:0045214 sarcomere organization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9H987-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVA4-1", "uniprot_id": [ { "id": "T184C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVA4", "type": "external" } ], "mass": 50142.0, "length": 438, "protein_name": "Transmembrane protein 184C", "gene_name": "TMEM184C", "organism": "Human", "refseq_name": "transmembrane protein 184C", "refseq_ac": [ { "id": "NP_060711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060711", "type": "external" } ], "gene_names_uniprotkb": "TMEM184C; PRO1355; TMEM34", "gene_names_refseq": "SLC51C3; TMEM184C; TMEM34", "protein_names_uniprotkb": "Transmembrane protein 184C; Transmembrane protein 34", "protein_names_refseq": "transmembrane protein 184C; transmembrane protein 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:55751)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;11483580;17072649;23186163;24715725;25892735;27452731;28904123;29314611;29769354;31154438;31217245;32350084;33298915;34357683;35051231;35580925", "class_list": "", "function": "Possible tumor suppressor which may play a role in cell growth., [UniProtKB, PubMed]; Recently, by cDNA microarray anal., we identified transmembrane protein 34 (TMEM34) that down-regulated in anaplastic thyroid cancer cell lines as compared to normal thyroid tissues. Transfection of TMEM34 into KTA2 cells led to inhibition of cell growth, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DP04;Q86X84;Q969I7;Q9NXM2", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9NVA4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYV9-1", "uniprot_id": [ { "id": "T2R13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYV9", "type": "external" } ], "mass": 35118.0, "length": 303, "protein_name": "Taste receptor type 2 member 13", "gene_name": "TAS2R13", "organism": "Human", "refseq_name": "taste receptor type 2 member 13", "refseq_ac": [ { "id": "NP_076409", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076409", "type": "external" } ], "gene_names_uniprotkb": "TAS2R13", "gene_names_refseq": "T2R13; TAS2R13; TRB3", "protein_names_uniprotkb": "Taste receptor type 2 member 13; T2R13; TRB3; Taste receptor family B member 3", "protein_names_refseq": "taste receptor type 2 member 13; taste receptor, family B, member 3; taste receptor, type 2, member 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:50838); (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;15951850;16634148;16923326;16959974;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;22824251;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;25257701;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;33556063;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Can cornelian cherry mask bitter taste of probiotic chocolate? Human TAS2R receptors and a sensory study with comprehensive characterisation of new functional product. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variation in TRPV1 and TAS2Rs influence sensations from sampled EtOH and may potentially influence how individuals initially respond to alcoholic beverages., [RefSeq, PubMed]; It found a single nucleotide polymorphism (SNP) located within the TAS2R13 gene, which showed a significant association with measures of alcohol consumption assessed via the Alcohol Use Disorders Identification Test (AUDIT)., [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 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": 4, "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": "Q4G0I5;Q502V8;Q645X2", "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:0032467 positive regulation of cytokinesis;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NYV9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYW1-1", "uniprot_id": [ { "id": "TA2R9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYW1", "type": "external" } ], "mass": 35611.0, "length": 312, "protein_name": "Taste receptor type 2 member 9", "gene_name": "TAS2R9", "organism": "Human", "refseq_name": "taste receptor type 2 member 9", "refseq_ac": [ { "id": "NP_076406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076406", "type": "external" } ], "gene_names_uniprotkb": "TAS2R9", "gene_names_refseq": "T2R9; TAS2R9; TRB6", "protein_names_uniprotkb": "Taste receptor type 2 member 9; T2R9; TRB6; Taste receptor family B member 6", "protein_names_refseq": "taste receptor type 2 member 9; taste receptor, family B, member 6; taste receptor, type 2, member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:50835); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10761934;10761935;11007482;11208605;11696554;11917125;12120503;12139982;12581520;1329206;15194188;15496549;15576628;15744053;15951850;16634148;16923326;18434541;18577758;19092995;20022913;20555319;21148030;23121374;23674604;24235081;2534964;26768311;27071541;2748346;27757593;2834384;29557506;29614098;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "A functionally compromised TAS2R receptor negatively impacts glucose homeostasis, providing an important link between alimentary chemosensation and metabolic disease., [RefSeq, PubMed]; Genetic association studies in population of pregnant women in Czechoslovakia: Data suggest that an SNP in TAS2R9 (rs3741845) is associated with gestational diabetes; such genetic variation may play role in food preferences and compliance with healthy diet that may help prevent gestational diabetes. Associations were not found for SNPs in TAS1R2 and TAS2R7., [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 (By similarity)., [UniProtKB]; 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": 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": "Q502V7;Q50KT0;Q50KT1;Q645W9", "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": 5.1, "record_id": "Q9NYW1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYW3-1", "uniprot_id": [ { "id": "TA2R7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYW3", "type": "external" } ], "mass": 36550.0, "length": 318, "protein_name": "Taste receptor type 2 member 7", "gene_name": "TAS2R7", "organism": "Human", "refseq_name": "taste receptor type 2 member 7", "refseq_ac": [ { "id": "NP_076408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076408", "type": "external" } ], "gene_names_uniprotkb": "TAS2R7", "gene_names_refseq": "T2R7; TAS2R7; TRB4", "protein_names_uniprotkb": "Taste receptor type 2 member 7; T2R7; TRB4; Taste receptor family B member 4", "protein_names_refseq": "taste receptor type 2 member 7; taste receptor, family B, member 4; taste receptor, type 2, member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:50837); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 83, "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;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;27862975;28256214;2834384;29355483;29466837;29557506;29614098;29659026;29744740;29769354;30013099;30563861;30928101;31066447;31154438;31781630;35051231;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Effect of Bitter Compounds on the Expression of Bitter Taste Receptor T2R7 Downstream Signaling Effectors in cT2R7/pDisplay-Galpha16/gust44/pcDNA3.1 (+) Cells. 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]; Similar to majority of the Class A GPCRs, extracellular loop 2 in T2R7 plays a significant role in agonist binding and activation., [RefSeq, PubMed]; TAS2R7 is a receptor for bitter tasting salts., [RefSeq, PubMed]; The TAS2R7 may act as a metal cation receptor mediating bitterness of divalent and trivalent salts., [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": 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": "Q645Y1", "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": 8.4, "record_id": "Q9NYW3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYW5-1", "uniprot_id": [ { "id": "TA2R4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYW5", "type": "external" } ], "mass": 33841.0, "length": 299, "protein_name": "Taste receptor type 2 member 4", "gene_name": "TAS2R4", "organism": "Human", "refseq_name": "taste receptor type 2 member 4", "refseq_ac": [ { "id": "NP_058640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058640", "type": "external" } ], "gene_names_uniprotkb": "TAS2R4", "gene_names_refseq": "T2R4; TAS2R4", "protein_names_uniprotkb": "Taste receptor type 2 member 4; T2R4", "protein_names_refseq": "candidate taste receptor T2R4; taste receptor type 2 member 4; taste receptor, type 2, member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:50832); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 84, "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;19628819;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23481700;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29557506;29614098;29659026;29744740;30013099;30301923;30563861;31894529;32159211;33572225;34087483;35051231;38732607;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Bitter receptor member TAS2R4 may have neurobiological function beyond acting as a bitter receptor., [RefSeq, PubMed]; Chemosensory bitter taste receptors T2R4 and T2R14 activation attenuates proliferation and migration of breast cancer cells., [RefSeq, PubMed]; Differential Activation of TAS2R4 May Recover Ability to Taste Propylthiouracil for Some TAS2R38 AVI Homozygotes. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Variation in the Bitter Receptors Responsible for Epicatechin Detection Are Associated with BMI in an Elderly Cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Gustducin-coupled receptor for denatonium and N(6)-propyl-2-thiouracil 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. In airway epithelial cells, binding of denatonium increases the intracellular calcium ion concentration and stimulates ciliary beat frequency., [UniProtKB, PubMed]; In summary, genetic variations in T2R3/4 bitterness receptors may modify the papillary thyroid carcinoma (PTC) risk, and the genetically modified thyroid hormone level by those variations may be linked with the PTC-T2Rs association 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 and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode 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]", "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": 12, "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": "Q645W5;Q75MV8", "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: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": 8.5, "record_id": "Q9NYW5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYW6-1", "uniprot_id": [ { "id": "TA2R3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYW6", "type": "external" } ], "mass": 35915.0, "length": 316, "protein_name": "Taste receptor type 2 member 3", "gene_name": "TAS2R3", "organism": "Human", "refseq_name": "taste receptor type 2 member 3", "refseq_ac": [ { "id": "NP_058639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058639", "type": "external" } ], "gene_names_uniprotkb": "TAS2R3", "gene_names_refseq": "T2R3; TAS2R3", "protein_names_uniprotkb": "Taste receptor type 2 member 3; T2R3", "protein_names_refseq": "candidate taste receptor T2R3; taste receptor type 2 member 3; taste receptor, type 2, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:50831); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 84, "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;19372376;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;24958902;2534964;25853419;26377607;26785164;27071541;2748346;28256214;2834384;29466837;29557506;29614098;29659026;29744740;30013099;30301923;30563861;31154438;32227702;32253825;33556063;35051231;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Can cornelian cherry mask bitter taste of probiotic chocolate? Human TAS2R receptors and a sensory study with comprehensive characterisation of new functional product. Publication Status: Online-Only, [RefSeq, PubMed]; Differences in the bitterness from chemicals associated with genetic polymorphisms in bitter taste receptor genes, specifically in TAS2R3, -4, -5 as well as TAS2R38., [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]; In summary, genetic variations in T2R3/4 bitterness receptors may modify the papillary thyroid carcinoma (PTC) risk, and the genetically modified thyroid hormone level by those variations may be linked with the PTC-T2Rs association Publication Status: Online-Only, [RefSeq, PubMed]; Includes the study of a polymorphic upstream ORF in this gene, and shows that it functions to reduce protein levels by ~58%., [RefSeq, PubMed]; Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese family., [RefSeq, PubMed]; Polymorphism of TAS2R3, TAS2R5, TAS2R19, and TAS2R50 genes and bitter food intake frequency inelderly woman., [RefSeq, PubMed]; This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless taste receptor genes encode 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]", "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": "A4D1U2;Q645W2;Q75MV6", "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": "Q9NYW6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1P4-1", "uniprot_id": [ { "id": "TAAR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1P4", "type": "external" } ], "mass": 39065.0, "length": 343, "protein_name": "Putative trace amine-associated receptor 3", "gene_name": "TAAR3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TAAR3P; GPR57; TAAR3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative trace amine-associated receptor 3; G protein-coupled receptor 57; TaR-3; Trace amine receptor 3; hTaar3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-375280); (R-HSA-418555)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10684976;11007482;11459929;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17218486;18044684;18577758;18828673;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29443750;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Putative olfactory receptor activated by several primary trace amines., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "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;GO:0007606 sensory perception of chemical stimulus", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9P1P4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMR3-1", "uniprot_id": [ { "id": "TBX20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMR3", "type": "external" } ], "mass": 49232.0, "length": 447, "protein_name": "T-box transcription factor TBX20", "gene_name": "TBX20", "organism": "Human", "refseq_name": "T-box transcription factor TBX20 isoform 1", "refseq_ac": [ { "id": "NP_001071121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071121", "type": "external" } ], "gene_names_uniprotkb": "TBX20", "gene_names_refseq": "ASD4; TBX20", "protein_names_uniprotkb": "T-box transcription factor TBX20; T-box protein 20", "protein_names_refseq": "T-box 20; T-box protein 20; T-box transcription factor TBX20 isoform 1; T-box transcription factor TBX20", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); atrial heart septal defect 4 (Disease Ontology:DOID:0110109); dilated cardiomyopathy (Disease Ontology:DOID:12930); ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); atrial heart septal defect (Disease Ontology:DOID:1882); tetralogy of Fallot (Disease Ontology:DOID:6419)", "pathway": " (hsa:57057); (R-HSA-9733709)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10936053;15095414;17668378;18275040;18834961;19479054;19762328;24715725;25187301;26783251;26992070;28832583;29242379;29393594;29636455;31844290;32387766;32938616;33054971;34087483;34171305;34185709;35051231;35580925;36010968;36102189;36831251;37657916;38284443;38353104", "class_list": "", "function": "Acts as a transcriptional activator and repressor required for cardiac development and may have key roles in the maintenance of functional and structural phenotypes in adult heart., [UniProtKB]; Analysis of TBX20 in human hearts and its regulation by TFAP2, [RefSeq, PubMed]; Epigenetic Evaluation of the TBX20 Gene and Environmental Risk Factors in Mexican Paediatric Patients with Congenital Septal Defects. Publication Status: Online-Only, [RefSeq, PubMed]; Findings provide the first insight into TBX20 mutations for tetrology of fallot and anomalous pulmonary venous connection GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Genetic and functional variants of the TBX20 gene promoter in dilated cardiomyopathy., [RefSeq, PubMed]; Our findings are the first to link TBX20 mutations to human pathology, [RefSeq, PubMed]; Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction., [RefSeq, PubMed]; TBX20 Improves Contractility and Mitochondrial Function During Direct Human Cardiac Reprogramming., [RefSeq, PubMed]; TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1Y6;Q000T4;Q0IJ70;Q0VAS1;Q9Y2N5", "ec_number_list": [], "go_molecular_function": "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:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0001708 cell fate specification;GO:0036302 atrioventricular canal development;GO:0003171 atrioventricular valve development;GO:0060577 pulmonary vein morphogenesis;GO:0003175 tricuspid valve development", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9UMR3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2B4-1", "uniprot_id": [ { "id": "T53G5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2B4", "type": "external" } ], "mass": 34019.0, "length": 290, "protein_name": "TP53-target gene 5 protein", "gene_name": "TP53TG5", "organism": "Human", "refseq_name": "TP53-target gene 5 protein", "refseq_ac": [ { "id": "NP_055292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055292", "type": "external" } ], "gene_names_uniprotkb": "TP53TG5; C20orf10", "gene_names_refseq": "C20orf10; CLG01; TP53TG5", "protein_names_uniprotkb": "TP53-target gene 5 protein; TP53-inducible gene 5 protein", "protein_names_refseq": "TP53-inducible gene 5 protein; TP53-target gene 5 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:27296)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10719363;25548167;25576301;26154972;26992070;27600516;27846572;27862975;28228285;28832583;29242379;29557506;29789417;30379171;30429286;31154438;31844290;31848261;32157095;32983136;33592498;35051231;35494241;35580925;37074911", "class_list": "", "function": "May play a significant role in p53/TP53-mediating signaling pathway., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 7, "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_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9Y2B4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3F1-1", "uniprot_id": [ { "id": "TA6P_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3F1", "type": "external" } ], "mass": 6535.0, "length": 56, "protein_name": "Putative TAP2-associated 6.5 kDa polypeptide", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative TAP2-associated 6.5 kDa polypeptide", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "May be associated with TAP2 isoform activity., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q9Y3F1-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCI4-1", "uniprot_id": [ { "id": "VWA3A_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCI4", "type": "external" } ], "mass": 134020.0, "length": 1184, "protein_name": "von Willebrand factor A domain-containing protein 3A", "gene_name": "VWA3A", "organism": "Human", "refseq_name": "von Willebrand factor A domain-containing protein 3A precursor", "refseq_ac": [ { "id": "NP_775886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775886", "type": "external" } ], "gene_names_uniprotkb": "VWA3A", "gene_names_refseq": "VWA3A", "protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 3A", "protein_names_refseq": "von Willebrand factor A domain-containing protein 3A precursor; von Willebrand factor A domain-containing protein 3A", "tax_id": 9606, "disease": "", "pathway": " (hsa:146177)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;28228285;35051231;39894887", "class_list": "", "function": "", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4QMU8;A6NNC0;Q6UTX4;Q6ZQZ9;Q8IUY6;Q8N9W1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NCI4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14905-1", "uniprot_id": [ { "id": "WNT9B_HUMAN", "url": "https://www.uniprot.org/uniprot/O14905", "type": "external" } ], "mass": 39001.0, "length": 357, "protein_name": "Protein Wnt-9b", "gene_name": "WNT9B", "organism": "Human", "refseq_name": "protein Wnt-9b isoform 1 precursor", "refseq_ac": [ { "id": "NP_003387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003387", "type": "external" } ], "gene_names_uniprotkb": "WNT9B; PRO21956; WNT14B; WNT15", "gene_names_refseq": "WNT14B; WNT15; WNT9B", "protein_names_uniprotkb": "Protein Wnt-9b; Protein Wnt-14b; Protein Wnt-15", "protein_names_refseq": "protein Wnt-14b; protein Wnt-9b isoform 1 precursor; protein Wnt-9b; wingless-type MMTV integration site family member 9B; wingless-type MMTV integration site family, member 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:7484); (R-HSA-3238698); (R-HSA-373080); (R-HSA-9831926)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10097073;10694878;11031247;11231171;11237011;11297558;11433298;11604992;12098667;12559132;12717451;12975309;15498814;16364628;16602827;16645052;16678095;16678096;17108000;17117926;17141155;17397399;18160347;18160348;18193032;18193037;18430724;18801728;19442504;19566487;19619488;19837038;20093360;20477987;20533886;20826466;20966082;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;27214281;30459171;31867895;32887752;33704824;33981976;34145744;34324458;35051231;3616618;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337;9441749", "class_list": "", "function": "Canonical Wnts Mediate CD8(+) T Cell Noncytolytic Anti-HIV-1 Activity and Correlate with HIV-1 Clinical Status., [RefSeq, PubMed]; Circulating Exosomal miR-20b-5p Inhibition Restores Wnt9b Signaling and Reverses Diabetes-Associated Impaired Wound Healing., [RefSeq, PubMed]; Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis., [RefSeq, PubMed]; Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Required for normal embryonic kidney development, and for normal development of the urogenital tract, including uterus and part of the oviduct and the upper vagina in females, and epididymis and vas deferens in males. Activates a signaling cascade in the metanephric mesenchyme that induces tubulogenesis. Acts upstream of WNT4 in the signaling pathways that mediate development of kidney tubules and the Muellerian ducts. Plays a role in cranofacial development and is required for normal fusion of the palate during embryonic development (By similarity)., [UniProtKB, PubMed, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB, UniProtKB]; The WNT gene family consists of structurally related genes that 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. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Wnt Family Member 9b (Wnt9b) Is a New Sensitive and Specific Marker for Breast Cancer., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXT4;Q96Q09", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0039706 co-receptor binding;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:1902455 negative regulation of stem cell population maintenance;GO:0071300 cellular response to retinoic acid;GO:0032526 response to retinoic acid;GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "O14905-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00534-1", "uniprot_id": [ { "id": "VMA5A_HUMAN", "url": "https://www.uniprot.org/uniprot/O00534", "type": "external" } ], "mass": 86489.0, "length": 786, "protein_name": "von Willebrand factor A domain-containing protein 5A", "gene_name": "VWA5A", "organism": "Human", "refseq_name": "von Willebrand factor A domain-containing protein 5A isoform 1", "refseq_ac": [ { "id": "NP_001123614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123614", "type": "external" } ], "gene_names_uniprotkb": "VWA5A; BCSC1; LOH11CR2A", "gene_names_refseq": "BCSC-1; BCSC1; LOH11CR2A; VWA5A", "protein_names_uniprotkb": "von Willebrand factor A domain-containing protein 5A; BCSC-1; Breast cancer suppressor candidate 1; Loss of heterozygosity 11 chromosomal region 2 gene A protein", "protein_names_refseq": "breast cancer suppressor candidate 1; loss of heterozygosity 11 chromosomal region 2 gene A protein; loss of heterozygosity, 11, chromosomal region 2, gene A; ortholog of mouse AW551984; von Willebrand factor A domain-containing protein 5A isoform 1; von Willebrand factor A domain-containing protein 5A", "tax_id": 9606, "disease": "", "pathway": " (hsa:4013)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "14504409;19656157;22594792;24715725;25418920;25576301;25892735;26154972;26811146;27600516;27862975;28218747;28228285;28832583;29493099;29557506;29786170;30315122;30410026;30429286;30484775;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32938616;32983136;33298915;33592498;33912179;34357683;35051231;35580925;36010968;36215666;36241641;36284347;37938771;38291227;39894887;9417908", "class_list": "", "function": "BCSC-1 binds to Sox10, which down regulates MITF, and results in a switch of melanoma cells from a proliferative to a migratory phenotype. Erratum:[Pigment Cell Melanoma Res. 2012 Nov;25(6):834. Correa-Rochal, Rafael [corrected to Correa-Rocha, Rafael]; Boliganl, Kayluz F [corrected to Boligan, Kayluz F]], [RefSeq, PubMed]; BCSC-1 suppression might play roles in tumorigenesis of some nasopharyngeal carcinomas, [RefSeq, PubMed]; Identification of VWA5A as a novel biomarker for inhibiting metastasis in breast cancer by machine-learning based protein prioritization. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6UN19;Q6UN20;Q9BVF8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "O00534-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14598-1", "uniprot_id": [ { "id": "VCY1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14598", "type": "external" } ], "mass": 12917.0, "length": 125, "protein_name": "Testis-specific basic protein Y 1", "gene_name": "VCY1B; VCY", "organism": "Human", "refseq_name": "testis-specific basic protein Y 1", "refseq_ac": [ { "id": "NP_004670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004670", "type": "external" } ], "gene_names_uniprotkb": "VCY1B; VCY; BPY1B; BPY1; VCY1A", "gene_names_refseq": "BPY1; VCY1A; VCY1; VCY", "protein_names_uniprotkb": "Testis-specific basic protein Y 1; Basic charge, Y-linked 1; Variably charged protein Y", "protein_names_refseq": "basic charge, Y-linked 1; basic protein on Y chromosome, 1; testis-specific basic protein Y 1; testis-specific basic protein on Y, 1; variable charge, Y chromosome; variably charged protein Y", "tax_id": 9606, "disease": "", "pathway": " (hsa:353513); (hsa:9084)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "17342728;24970476;32983136;33592498;9381176", "class_list": "", "function": "Human VCX/Y, SPANX, and CSAG2 gene families together with the murine SPANX gene and the CYPT family may share a common ancestor., [RefSeq, PubMed]; Identified members of the VCX/Y gene family as novel CT antigens., [RefSeq, PubMed]; May mediate a process in spermatogenesis or may play a role in sex ratio distortion., [UniProtKB]; The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [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_biological_process": "GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O14598-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15195-1", "uniprot_id": [ { "id": "VILL_HUMAN", "url": "https://www.uniprot.org/uniprot/O15195", "type": "external" } ], "mass": 95907.0, "length": 856, "protein_name": "Villin-like protein", "gene_name": "VILL", "organism": "Human", "refseq_name": "villin-like protein isoform 1", "refseq_ac": [ { "id": "NP_056957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056957", "type": "external" } ], "gene_names_uniprotkb": "VILL", "gene_names_refseq": "VILL", "protein_names_uniprotkb": "Villin-like protein", "protein_names_refseq": "villin-like protein isoform 1; villin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:50853)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;16921170;18006815;18022635;25576301;27846572;27862975;28832583;29557506;29846532;30379171;31154438;31844290;32157095;32387766;35051231;36284347;37217939;9179494", "class_list": "", "function": "Brm is required for villin expression, a definitive marker of intestinal metaplasia and differentiation, [RefSeq, PubMed]; Phospholipase C-gamma1 interaction with villin regulates epithelial cell migration, [RefSeq, PubMed]; Possible tumor suppressor., [UniProtKB]; Predicting the effect of a point mutation on a protein fold: the villin and advillin headpieces and their Pro62Ala mutants., [RefSeq, PubMed]; The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MZP1;Q9BT80;Q9BWH7", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0051016 barbed-end actin filament capping;GO:0008154 actin polymerization or depolymerization;GO:0051014 actin filament severing;GO:0007010 cytoskeleton organization;GO:0051693 actin filament capping", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "O15195-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15240-1", "uniprot_id": [ { "id": "VGF_HUMAN", "url": "https://www.uniprot.org/uniprot/O15240", "type": "external" } ], "mass": 67258.0, "length": 615, "protein_name": "Neurosecretory protein VGF", "gene_name": "VGF", "organism": "Human", "refseq_name": "neurosecretory protein VGF precursor", "refseq_ac": [ { "id": "NP_003369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003369", "type": "external" } ], "gene_names_uniprotkb": "VGF", "gene_names_refseq": "SCG7; SgVII; VGF", "protein_names_uniprotkb": "Neurosecretory protein VGF", "protein_names_refseq": "neuro-endocrine specific protein VGF; neurosecretory protein VGF precursor; neurosecretory protein VGF", "tax_id": 9606, "disease": "", "pathway": " (hsa:7425); (R-HSA-381426); (R-HSA-8957275); (R-HSA-9031628)", "pathway_count": 4, "publication_count": 216, "publication_id_list": "10.1038/emboj.2013.79;10026136;10077652;10203854;10218588;10381005;10512690;10611221;10611312;10614670;10656257;10681634;10734128;10810289;10826704;10872467;10882540;10898936;10912521;10951195;10984481;10990447;11018254;11027551;11158056;11250653;11264294;11280768;11316783;11331872;11343657;11522292;11567222;11606061;11739083;11751371;11755530;11788658;11840323;11956230;12241545;12379487;12399542;12466191;12511643;12810533;12904166;1370451;1377233;1383255;14522948;14597720;14969744;15102911;15126567;15161978;15308688;15449318;15469690;15485880;15525596;15542842;15620361;15642270;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16287845;16339507;16407550;16481598;16484497;16574654;16732277;17047378;17088210;17088211;17088212;17249697;17312271;17632064;17898216;17985932;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;20112406;2017159;2040600;20506119;2052361;2072895;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;22869377;23250050;23584533;24060757;2476804;2479552;25248477;25569790;25645385;25748042;26018600;26091039;2676516;27041596;27128622;27220739;27600516;28076410;28275114;28286024;28934328;29557506;29559111;30459171;31154438;3127059;31844290;31848261;32157095;32350084;32488085;32502341;32938616;33592498;33912179;33968037;34078123;35251023;35738161;35762443;36430431;3672127;37177846;37938771;38942763;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7551568;7588299;7592934;7595538;7608156;7624335;7683646;7689487;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8781553;8817670;8846918;8894645;8918830;8964575;9032251;9084409;9343422;9344675;9390517;9418898;9497324;9622090;9709957;9722618;9733769;9770464;9774344;9786878;9808461;9822744;9858769;9922210", "class_list": "", "function": "Application of neurosecretory protein VGF biomarker model to current diagnostic criteria provides an objective biomarker pattern that identifies patients with amyotrophic lateral sclerosis., [RefSeq, PubMed]; Associations of VGF with Neuropathologies and Cognitive Health in Older Adults., [RefSeq, PubMed]; Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Has bactericidal activity against M.luteus, and antifungal activity against P. Pastoris., [UniProtKB, PubMed]; Low VGF is associated with executive dysfunction in patients with major depressive disorder., [RefSeq, PubMed]; Neuronal survival factor VGF promotes chemoresistance and predicts poor prognosis in lung cancers with neuroendocrine feature., [RefSeq, PubMed]; Plays a role in the control of body fluid homeostasis by regulating vasopressin release. Activates GABAergic interneurons which are inhibitory neurons of the nervous system and thereby suppresses presynaptic glutamatergic neurons (By similarity). Also stimulates feeding behavior in an orexin-dependent manner in the hypothalamus (By similarity). Functions as a positive regulator for the activation of orexin neurons resulting in elevated gastric acid secretion and gastric emptying (By similarity)., [UniProtKB, UniProtKB]; Plays a role in the control of body fluid homeostasis by regulating vasopressin release. Suppresses presynaptic glutamatergic neurons connected to vasopressin neurons., [UniProtKB, UniProtKB]; Plays a role in the regulation of memory formation and depression-related behaviors potentially by influencing synaptic plasticity and neurogenesis. Induces acute and transient activation of the NTRK2/TRKB receptor and subsequent CREB phosphorylation (By similarity). Also induces insulin secretion in insulinoma cells by increasing intracellular calcium mobilization (By similarity)., [UniProtKB, UniProtKB]; Secreted multifunctional neuropeptide that binds to different cell receptors and thereby plays multiple physiological roles including modulation of energy expenditure, pain, response to stress, gastric regulation, glucose homeostasis as well as lipolysis (By similarity). Activates the G-protein-coupled receptor C3AR1 via a folding-upon-binding mechanism leading to enhanced lipolysis in adipocytes (By similarity). Interacts with C1QBP receptor in macrophages and microglia causing increased levels of intracellular calcium and hypersensitivity (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Secreted polyprotein that is packaged and proteolytically processed by prohormone convertases PCSK1 and PCSK2 in a cell-type-specific manner (By similarity). VGF and peptides derived from its processing play many roles in neurogenesis and neuroplasticity associated with learning, memory, depression and chronic pain (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Structure of AQEE-30 of VGF Neuropeptide in Membrane-Mimicking Environments. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "Q9UDW8", "ec_number_list": [], "go_molecular_function": "GO:0005184 neuropeptide hormone activity;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0031410 cytoplasmic vesicle;GO:0030133 transport vesicle", "go_biological_process": "GO:0033500 carbohydrate homeostasis;GO:0048167 regulation of synaptic plasticity;GO:0042742 defense response to bacterium;GO:0051591 response to cAMP", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "O15240-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76076-1", "uniprot_id": [ { "id": "CCN5_HUMAN", "url": "https://www.uniprot.org/uniprot/O76076", "type": "external" } ], "mass": 26825.0, "length": 250, "protein_name": "CCN family member 5", "gene_name": "CCN5", "organism": "Human", "refseq_name": "CCN family member 5 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001310298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310298", "type": "external" } ], "gene_names_uniprotkb": "CCN5; CT58; CTGFL; PRO261; WISP2", "gene_names_refseq": "CCN5; CT58; CTGF-L; WISP2", "protein_names_uniprotkb": "CCN family member 5; CTGF-L; Connective tissue growth factor-like protein; Connective tissue growth factor-related protein 58; WISP-2; WNT1-inducible-signaling pathway protein 2", "protein_names_refseq": "CCN family member 5 isoform 2 precursor; CCN family member 5; WNT1 inducible signaling pathway protein 2; connective tissue growth factor-like protein; connective tissue growth factor-related protein 58", "tax_id": 9606, "disease": "", "pathway": " (hsa:8839)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10358067;11855747;12975309;15340161;29393594;29786170;36736423;36801505;37302424;37343316;38035707;9843955", "class_list": "", "function": "Acetylation stabilizes the signaling protein WISP2 by preventing its degradation to suppress the progression of acute myeloid leukemia., [RefSeq, PubMed]; ERalpha prevents tumorigenesis of both liver and breast cancer cells through CCN5., [RefSeq, PubMed]; LncRNA TRG-AS1 inhibits bone metastasis of breast cancer by the miR-877-5p/WISP2 axis., [RefSeq, PubMed]; May play an important role in modulating bone turnover. Promotes the adhesion of osteoblast cells and inhibits the binding of fibrinogen to integrin receptors. In addition, inhibits osteocalcin production., [UniProtKB]; Overexpression of WISP2 is associated with breast cancer, [RefSeq, PubMed]; SNHG3/WISP2 Axis Promotes Hela Cell Migration and Invasion via Activating Wnt/beta-Catenin Signaling., [RefSeq, 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 (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]., [RefSeq]; WISP2 downregulation inhibits the osteogenic differentiation of BMSCs in congenital scoliosis by regulating Wnt/beta-catenin pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2R9N4;E1P612;Q6PEG3", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0045597 positive regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O76076-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95399-1", "uniprot_id": [ { "id": "UTS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95399", "type": "external" } ], "mass": 14296.0, "length": 124, "protein_name": "Urotensin-2", "gene_name": "UTS2", "organism": "Human", "refseq_name": "urotensin-2 isoform b preproprotein", "refseq_ac": [ { "id": "NP_006777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006777", "type": "external" } ], "gene_names_uniprotkb": "UTS2; PRO1068", "gene_names_refseq": "PRO1068; U-II; UCN2; UII; UTS2", "protein_names_uniprotkb": "Urotensin-2; U-II; UII; Urotensin II", "protein_names_refseq": "prepro U-II; urotensin II; urotensin-2 isoform b preproprotein", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); gestational diabetes (Disease Ontology:DOID:11714); endomyocardial fibrosis (Disease Ontology:DOID:12932); asthma (Disease Ontology:DOID:2841); carotid artery disease (Disease Ontology:DOID:3407); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:10911); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 131, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11237011;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;12975309;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;14683597;15139756;15340161;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;23446738;23690594;24906252;2649896;27496565;2841328;30397120;3086311;3202875;32387766;32983136;33605830;3366244;34173803;3525564;36188724;37217939;37371494;38262555;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594;9861051", "class_list": "", "function": "Dynamic Changes in Plasma Urotensin II and Its Correlation With Plaque Stability., [RefSeq, PubMed]; Evidence for heterodimerization and functional interaction of the urotensin II and the angiotensin II type 1 receptors., [RefSeq, PubMed]; Highly potent vasoconstrictor., [UniProtKB]; Role of miR-146a rs2910164 and UTS2 rs228648 Genetic Variants in Behcet's Disease., [RefSeq, PubMed]; Serum Urotensin II Levels Are Elevated in Patients with Obstructive Sleep Apnea. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Urotensin II level is elevated in inflammatory bowel disease 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5H8X7;Q6UXF6;Q9UKP7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0045202 synapse", "go_biological_process": "GO:0006936 muscle contraction;GO:0007268 chemical synaptic transmission;GO:0008217 regulation of blood pressure;GO:0097746 blood vessel diameter maintenance", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O95399-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46094-1", "uniprot_id": [ { "id": "XCR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P46094", "type": "external" } ], "mass": 38508.0, "length": 333, "protein_name": "Chemokine XC receptor 1", "gene_name": "XCR1", "organism": "Human", "refseq_name": "chemokine XC receptor 1", "refseq_ac": [ { "id": "NP_001019815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019815", "type": "external" } ], "gene_names_uniprotkb": "XCR1; CCXCR1; GPR5", "gene_names_refseq": "CCXCR1; GPR5; XCR1", "protein_names_uniprotkb": "Chemokine XC receptor 1; G protein-coupled receptor 5; Lymphotactin receptor; XC chemokine receptor 1", "protein_names_refseq": "G protein-coupled receptor 5; XC chemokine receptor 1; chemokine (C motif) XC receptor 1; chemokine (C motif) receptor 1; chemokine XC receptor 1; lymphotactin receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2829); (R-HSA-380108); (R-HSA-416476)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10191087;10229797;10567430;10640743;10706668;10725696;10725697;10727532;10781587;10861009;11015615;11060282;11742120;11753430;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16182515;16268778;16339447;16754659;16923326;1744577;1840701;18434541;18515384;18577758;1891716;18936096;1905813;20002784;2078213;2217207;2423119;2841328;29557506;2970963;3086311;3098319;3260265;35051231;35580925;37895310;7602097;7622448;7642634;7679328;7832990;7851893;7875320;7937899;8048929;8383238;8639485;8664309;8849694;9024663;9164944;9166430;9169459;9207005;9276730;9305846;9390561;9463416;9618518;9632725;9770463", "class_list": "", "function": "Receptor for chemokines SCYC1 and SCYC2. Subsequently transduces a signal by increasing the intracellular calcium ions level. Receptor for XCL1/Lymphotactin., [UniProtKB]; Systematic Pan-Cancer Analysis Reveals X-C Motif Chemokine Receptor 1 as a Prognostic and Immunological Biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains. The encoded protein transduces a signal by increasing the intracellular calcium ion level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Some studies have implicated a cluster of genes at 3p21.31, including this gene, as associated with COVID-19 risk. The encoded protein may also play a role in cell proliferation and migration in several types of cancer. [provided by RefSeq, Jan 2023]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P46094-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47901-1", "uniprot_id": [ { "id": "V1BR_HUMAN", "url": "https://www.uniprot.org/uniprot/P47901", "type": "external" } ], "mass": 46971.0, "length": 424, "protein_name": "Vasopressin V1b receptor", "gene_name": "AVPR1B", "organism": "Human", "refseq_name": "vasopressin V1b receptor", "refseq_ac": [ { "id": "NP_000698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000698", "type": "external" } ], "gene_names_uniprotkb": "AVPR1B; AVPR3; VPR3", "gene_names_refseq": "AVPR1B; AVPR3; V1bR; VPR3", "protein_names_uniprotkb": "Vasopressin V1b receptor; AVPR V1b; AVPR V3; Antidiuretic hormone receptor 1b; V1bR; Vasopressin V3 receptor", "protein_names_refseq": "AVPR V1b; AVPR V3; V1B receptor; antidiuretic hormone receptor 1B; arginine vasopressin receptor 3; pituitary vasopressin receptor 3; vasopressin V1b receptor; vasopressin V3 receptor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); autism spectrum disorder (Disease Ontology:DOID:0060041); depressive disorder (Disease Ontology:DOID:1596); anxiety disorder (Disease Ontology:DOID:2030); bipolar disorder (Disease Ontology:DOID:3312); mood disorder (Disease Ontology:DOID:3324); pituitary adenoma (Disease Ontology:DOID:3829); ACTH-secreting pituitary adenoma (Disease Ontology:DOID:7004)", "pathway": " (hsa:553); (R-HSA-388479); (R-HSA-416476); (R-HSA-5619099)", "pathway_count": 4, "publication_count": 71, "publication_id_list": "10191087;10369876;10567430;10607899;10727532;10861009;11015615;11742120;11753430;12107248;12120503;12436935;12446593;1313946;14673472;15327388;15951850;16182515;16268778;16333859;16339447;16672911;16754659;16923326;17105757;17699341;17909131;18434541;18508290;18515384;18577758;18936096;1905813;20463780;20973922;2115785;23360744;24766294;2841328;2991279;30303493;3086311;30962532;32357974;32387766;33713620;35051231;35451730;35905808;36367618;4061066;4065330;6401806;7714110;7802081;7805841;7929452;7937899;8103767;8106369;8514868;8664309;9264324;9305846;9357056;9459574;9467595;9581826;9651149;9770463;9884074", "class_list": "", "function": "(Microbial infection) During SARS coronavirus-2/SARS-CoV-2 infection, may recognize and internalize the complex formed by AVP/Arg-vasopressin, SARS-CoV-2 spike protein and secreted ACE2 through DNM2/dynamin 2-dependent endocytosis., [UniProtKB, PubMed]; Correlation Between Sleep Electroencephalogram, Brain-Derived Neurotrophic Factor, AVPR1B Gene Polymorphism, and Suicidal Behavior in Patients with Depression., [RefSeq, PubMed]; Physical activity associates empathy in Japanese young adults with specific gene variations of oxytocin receptor and vasopressin V1B receptor., [RefSeq, PubMed]; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system., [UniProtKB]; Responsiveness to DDAVP in Cushing's disease is associated with USP8 mutations through enhancing AVPR1B promoter activity., [RefSeq, PubMed]; The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1A, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor is primarily located in the anterior pituitary, where it stimulates ACTH release. It is expressed at high levels in ACTH-secreting pituitary adenomas as well as in bronchial carcinoids responsible for the ectopic ACTH syndrome. A spliced antisense transcript of this gene has been reported but its function is not known. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "B0M0J6;Q5TZ00", "ec_number_list": [], "go_molecular_function": "GO:0005080 protein kinase C binding;GO:0005000 vasopressin receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0042127 regulation of cell population proliferation;GO:0043410 positive regulation of MAPK cascade;GO:0032870 cellular response to hormone stimulus", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P47901-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13336-1", "uniprot_id": [ { "id": "UT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13336", "type": "external" } ], "mass": 42528.0, "length": 389, "protein_name": "Urea transporter 1", "gene_name": "SLC14A1", "organism": "Human", "refseq_name": "urea transporter 1 isoform 1", "refseq_ac": [ { "id": "NP_001122060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122060", "type": "external" } ], "gene_names_uniprotkb": "SLC14A1; HUT11; JK; RACH1; UT1; UTE", "gene_names_refseq": "HUT11A; HUT11; HsT1341; JK; Jk(a); Jk(b); RACH1; RACH2; SLC14A1; UT-B1; UT1; UTE", "protein_names_uniprotkb": "Urea transporter 1; Solute carrier family 14 member 1; Urea transporter, erythrocyte", "protein_names_refseq": "Kidd blood group antigen; SLC14A1 JK; mutant KIDD blood group antigen; solute carrier family 14 (urea transporter), member 1 (Kidd blood group); urea transporter 1 isoform 1; urea transporter JK glycoprotein; urea transporter, erythrocyte; urea transporter-B1", "tax_id": 9606, "disease": "obsolete blood group, kidd system (MONDO:MONDO:0020612)", "pathway": " (hsa:6563); (R-HSA-549127)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10072434;10196521;10514515;10644814;10942407;10966924;11237011;12089149;12093813;12372408;12384147;14608356;14674884;15107849;15184985;15795384;16330770;16788146;16807400;17509534;18028269;18980618;23219802;26522469;29557506;32157095;32938616;34357683;35051231;35580925;36038817;36257969;37004669;37074911;38942821;39061061;7797558;7989337;8573795;8647271;8997401;9215669;9260930;9520460;9655880;9685390;9744804", "class_list": "", "function": "A potential link between AQP3 and SLC14A1 gene expression level and clinical parameters of maintenance hemodialysis patients. Publication Status: Online-Only, [RefSeq, PubMed]; Down-regulation of SLC14A1 in prostate cancer activates CDK1/CCNB1 and mTOR pathways and promotes tumor progression. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the transport of urea driven by a concentration gradient across the cell membrane of erythrocytes (PubMed:10514515, PubMed:7797558, PubMed:7989337, PubMed:8997401). Also mediates the transport of urea across the cell membrane of the renal inner medullary collecting duct which is critical to the urinary concentrating mechanism (By similarity). Facilitates water transport in erythrocytes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; SLC14A1 and TGF-beta signaling: a feedback loop driving EMT and colorectal cancer metachronous liver metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; SLC14A1 is a new biomarker in renal cancer., [RefSeq, PubMed]; Study on the role of SLC14A1 gene in biochemical recurrence of prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 11, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K0P3;B3KR62;B3KVX3;C9EHF2;Q86VM5", "ec_number_list": [], "go_molecular_function": "GO:0005372 water transmembrane transporter activity;GO:0015265 urea channel activity;GO:0015204 urea transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0071918 urea transmembrane transport;GO:0015837 amine transport;GO:0015840 urea transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q13336-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16572-1", "uniprot_id": [ { "id": "VACHT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16572", "type": "external" } ], "mass": 56903.0, "length": 532, "protein_name": "Vesicular acetylcholine transporter", "gene_name": "SLC18A3", "organism": "Human", "refseq_name": "vesicular acetylcholine transporter", "refseq_ac": [ { "id": "NP_003046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003046", "type": "external" } ], "gene_names_uniprotkb": "SLC18A3; VACHT", "gene_names_refseq": "CMS21; SLC18A3; VACHT", "protein_names_uniprotkb": "Vesicular acetylcholine transporter; Solute carrier family 18 member 3; VAChT", "protein_names_refseq": "solute carrier family 18 (vesicular acetylcholine transporter), member 3; solute carrier family 18 (vesicular acetylcholine), member 3; solute carrier family 18, member 3; vesicular acetylcholine transporter", "tax_id": 9606, "disease": "congenital myasthenic syndrome 21 (Disease Ontology:DOID:0110672); Alzheimer's disease (Disease Ontology:DOID:10652); Huntington's disease (Disease Ontology:DOID:12858); asthma (Disease Ontology:DOID:2841); bladder disease (Disease Ontology:DOID:365)", "pathway": " (hsa:6572); (R-HSA-264642); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 4, "publication_count": 225, "publication_id_list": "10097102;10436022;10440375;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11027560;11068039;11071885;11076969;11082044;11231140;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12519779;12717448;12847086;12944396;12952949;12958364;1317852;1339386;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;15935055;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17092608;17158794;17267500;17360967;17456551;17478680;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17891149;17978091;17989281;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20225888;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;25355561;26042225;26403691;26829388;27590285;2890644;29557506;31154438;33392160;33462016;33638639;33940317;3417785;34943989;35051231;35580925;37938771;6146630;7569928;7822302;7877694;8071310;8524399;8552632;8553074;8837779;8910293;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9701566;9723620;9736607;9812899", "class_list": "", "function": "Electrogenic antiporter that exchanges one cholinergic neurotransmitter, acetylcholine or choline, with two intravesicular protons across the membrane of synaptic vesicles. Uses the electrochemical proton gradient established by the V-type proton-pump ATPase to store neurotransmitters inside the vesicles prior to their release via exocytosis (By similarity) (PubMed:20225888, PubMed:8910293). Determines cholinergic vesicular quantal size at presynaptic nerve terminals in developing neuro-muscular junctions with an impact on motor neuron differentiation and innervation pattern (By similarity). Part of forebrain cholinergic system, regulates hippocampal synapse transmissions that underlie spatial memory formation (By similarity). Can transport serotonin., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Expression of VAChT and 5-HT in Ulcerative colitis dendritic cells., [RefSeq, PubMed]; Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3. Publication Status: Online-Only, [RefSeq, PubMed]; Striatal and cerebellar vesicular acetylcholine transporter expression is disrupted in human DYT1 dystonia. Erratum:[Brain. 2021 Sep 4;144(8):e68. doi: 10.1093/brain/awab172. PMID: 34323950], [RefSeq, PubMed]; This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R7S1", "ec_number_list": [], "go_molecular_function": "GO:0005277 acetylcholine transmembrane transporter activity;GO:0015311 monoamine:proton antiporter activity;GO:0005278 acetylcholine:proton antiporter activity", "go_cellular_component": "GO:0060201 clathrin-sculpted acetylcholine transport vesicle membrane;GO:0005886 plasma membrane;GO:0043195 terminal bouton;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:1900273 positive regulation of long-term synaptic potentiation;GO:0007268 chemical synaptic transmission;GO:0014057 positive regulation of acetylcholine secretion, neurotransmission;GO:0051610 serotonin uptake;GO:0006836 neurotransmitter transport", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q16572-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VIR6-4", "uniprot_id": [ { "id": "VPS53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VIR6", "type": "external" } ], "mass": 94405.0, "length": 832, "protein_name": "Vacuolar protein sorting-associated protein 53 homolog", "gene_name": "VPS53", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 53 homolog isoform 1", "refseq_ac": [ { "id": "NP_001121631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121631", "type": "external" } ], "gene_names_uniprotkb": "VPS53; PP13624", "gene_names_refseq": "HCCS1; PCH2E; VPS53; hVps53L; pp13624", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 53 homolog", "protein_names_refseq": "VPS53, GARP complex subunit; hepatocellular carcinoma suppressor 1; vacuolar protein sorting-associated protein 53 homolog isoform 1; vacuolar protein sorting-associated protein 53 homolog", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 2E (Disease Ontology:DOID:0060271)", "pathway": " (hsa:55275); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 128, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12565177;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15498874;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18691976;18946081;19164740;19490898;19608861;19620288;20068231;20685960;21183348;21209280;21421921;21436057;21689688;21807881;22335553;22354037;22544926;22581368;22717455;23091056;23437303;24577744;24794632;25343031;25505266;25645385;25799061;26375851;26992070;27440922;27600516;28063628;28228285;28514659;28832583;28834231;29242379;29331515;29393594;29769354;30315122;30524438;30915757;31418091;31721635;32157095;32209057;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35580925;36010968;36215666;36241641;40307207;40914422;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177", "class_list": "", "function": "Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD (PubMed:15878329, PubMed:18367545). Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane (PubMed:25799061)., [UniProtKB, PubMed, PubMed, PubMed]; Golgi associated retrograde protein complex, consisting of the Vps52, Vps53, and Vps54 proteins, shows significant conservation between various species but diversification and specialization result in important differences in human cells., [RefSeq, PubMed]; HCCS1 inhibits the stemness of human pancreatic cancer stem-like cells., [RefSeq, PubMed]; Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with intellectual disabilities in the three families. Publication Status: Online-Only, [RefSeq, PubMed]; VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesis., [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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2S8;B3FH42;Q8WYW3;Q9BRR2;Q9BY02;Q9NV25", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000938 GARP complex;GO:1990745 EARP complex;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006622 protein targeting to lysosome;GO:0042147 retrograde transport, endosome to Golgi;GO:0032456 endocytic recycling;GO:0007041 lysosomal transport;GO:0090119 vesicle-mediated cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q5VIR6-4", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q69YN4-1", "uniprot_id": [ { "id": "VIR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q69YN4", "type": "external" } ], "mass": 202025.0, "length": 1812, "protein_name": "Protein virilizer homolog", "gene_name": "VIRMA", "organism": "Human", "refseq_name": "protein virilizer homolog isoform 1", "refseq_ac": [ { "id": "NP_056311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056311", "type": "external" } ], "gene_names_uniprotkb": "VIRMA; KIAA1429; MSTP054", "gene_names_refseq": "KIAA1429; MSTP054; VIRMA; fSAP121", "protein_names_uniprotkb": "Protein virilizer homolog", "protein_names_refseq": "functional spliceosome-associated protein 121; protein virilizer homolog isoform 1; protein virilizer homolog; virilizer homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:25962)", "pathway_count": 1, "publication_count": 121, "publication_id_list": "10.1074/mcp.M114.046862;11156988;11237011;15302935;16964243;17081983;17697703;18452278;18669648;18691976;18767875;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;21406692;22544926;22645359;23186163;23481700;24100041;24129315;24275569;24366607;24397554;24715725;24981863;25576301;25645385;25813380;25880248;26154972;26811146;26992070;27600516;27726376;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29507755;29508533;29557506;29632711;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38717936;38843497;38848293;39060874;39456252;40914422", "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:24981863, PubMed:29507755). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs in the 3'-UTR near the stop codon: recruits the catalytic core components METTL3 and METTL14, thereby guiding m6A methylation at specific sites (PubMed:29507755). Required for mRNA polyadenylation via its role in selective m6A methylation: m6A methylation of mRNAs in the 3'-UTR near the stop codon correlating with alternative polyadenylation (APA) (PubMed:29507755)., [UniProtKB, PubMed, PubMed]; KIAA1429 Induces m6A Modification of LINC01106 to Enhance the Malignancy of Lung Adenocarcinoma Cells via the JAK/STAT3 Pathway., [RefSeq, PubMed]; KIAA1429 increases FOXM1 expression through YTHDF1-mediated m6A modification to promote aerobic glycolysis and tumorigenesis in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; KIAA1429 regulates lung adenocarcinoma proliferation and metastasis through the PI3K/AKT pathway by modulating ARHGAP30 expression., [RefSeq, PubMed]; N6-Methyladenosine Methyltransferase Component KIAA1429 Is a Potential Target of Cancer Therapy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Role and mechanism of KIAA1429 in regulating cellular ferroptosis and radioresistance in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 19, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2M1N0;Q6AHX9;Q6NT78;Q7Z6C7;Q8IXH4;Q9BTH4;Q9H9C9;Q9NWR3;Q9P2B8;Q9UFW1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q69YN4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6AWC2-1", "uniprot_id": [ { "id": "WWC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6AWC2", "type": "external" } ], "mass": 133891.0, "length": 1192, "protein_name": "Protein WWC2", "gene_name": "WWC2", "organism": "Human", "refseq_name": "protein WWC2 isoform 2", "refseq_ac": [ { "id": "NP_079225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079225", "type": "external" } ], "gene_names_uniprotkb": "WWC2; BOMB", "gene_names_refseq": "BOMB; WWC2", "protein_names_uniprotkb": "Protein WWC2; BH-3-only member B; WW domain-containing protein 2", "protein_names_refseq": "BH3-only member B protein; WW, C2 and coiled-coil domain containing 2; protein WWC2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80014)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;15302935;19664995;20068231;21406692;22299025;23301498;23481700;24682284;24715725;25576301;27862975;28815883;28832583;29242379;29393594;29557506;30429286;31154438;31844290;32157095;32387766;32488085;32502341;32623387;32938616;32983136;33392160;33592498;33968037;34509645;35051231;35580925;36010968;36241641;37086090;37938771;38253038", "class_list": "", "function": "MiR-21-5p promotes lung adenocarcinoma cell proliferation, migration and invasion via targeting WWC2., [RefSeq, PubMed]; Regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway. Enhances phosphorylation of LATS1 and YAP1 and negatively regulates cell proliferation and organ growth due to a suppression of the transcriptional activity of YAP1, the major effector of the Hippo pathway., [UniProtKB, PubMed]; This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]., [RefSeq]; WWC2 expression in the testis: Implications for spermatogenesis and male fertility., [RefSeq, PubMed]; WWC2 functions as a tumor suppressor by negatively regulating the Hippo signaling pathway and may serve as a prognostic marker 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": 4, "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": "Q32Q84;Q69YQ1;Q6AWB8;Q6ZSY9;Q6ZU09;Q7Z620;Q8TEB8;Q9H6P0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019900 kinase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046621 negative regulation of organ growth;GO:0035330 regulation of hippo signaling;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6AWC2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5H5-1", "uniprot_id": [ { "id": "VN1R4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5H5", "type": "external" } ], "mass": 33556.0, "length": 301, "protein_name": "Vomeronasal type-1 receptor 4", "gene_name": "VN1R4", "organism": "Human", "refseq_name": "vomeronasal type-1 receptor 4", "refseq_ac": [ { "id": "NP_776256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776256", "type": "external" } ], "gene_names_uniprotkb": "VN1R4; V1RL4", "gene_names_refseq": "V1RL4; VN1R4", "protein_names_uniprotkb": "Vomeronasal type-1 receptor 4; G protein-coupled receptor GPCR27; V1r-like receptor 4; hGPCR27", "protein_names_refseq": "CTD-2245F17.9; G-protein coupled receptor GPCR27; V1R-like 4; V1r-like receptor 4; hGPCR27; pheromone receptor; vomeronasal type-1 receptor 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:317703)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12044878;12123587;12826614", "class_list": "", "function": "Putative pheromone receptor., [UniProtKB]", "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": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2M3E2;Q7Z5H6;Q7Z5H7;Q8TDU2", "ec_number_list": [], "go_molecular_function": "GO:0005550 pheromone binding;GO:0016503 pheromone receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0019236 response to pheromone;GO:0007606 sensory perception of chemical stimulus", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q7Z5H5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUB5-1", "uniprot_id": [ { "id": "WFD13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUB5", "type": "external" } ], "mass": 10386.0, "length": 93, "protein_name": "WAP four-disulfide core domain protein 13", "gene_name": "WFDC13", "organism": "Human", "refseq_name": "WAP four-disulfide core domain protein 13 precursor", "refseq_ac": [ { "id": "NP_742002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_742002", "type": "external" } ], "gene_names_uniprotkb": "WFDC13; C20orf138; WAP13", "gene_names_refseq": "C20orf138; WAP13; WFDC13; dJ601O1.3", "protein_names_uniprotkb": "WAP four-disulfide core domain protein 13", "protein_names_refseq": "WAP four-disulfide core domain protein 13 precursor; WAP four-disulfide core domain protein 13; protease inhibitor WAP13; protein WFDC13", "tax_id": 9606, "disease": "", "pathway": " (hsa:164237)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12206714;24715725;32265295;35494241", "class_list": "", "function": "Putative acid-stable proteinase inhibitor., [UniProtKB]; This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5TEU7;Q8WWK7", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0019731 antibacterial humoral response;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8IUB5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWM1-1", "uniprot_id": [ { "id": "XAGE5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWM1", "type": "external" } ], "mass": 12077.0, "length": 108, "protein_name": "X antigen family member 5", "gene_name": "XAGE5", "organism": "Human", "refseq_name": "X antigen family member 5", "refseq_ac": [ { "id": "NP_570131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570131", "type": "external" } ], "gene_names_uniprotkb": "XAGE5; GAGED5", "gene_names_refseq": "CT12.5; GAGED5; XAGE-5; XAGE5", "protein_names_uniprotkb": "X antigen family member 5; CT12.5; Cancer/testis antigen 12.5; G antigen family D member 5; XAGE-5", "protein_names_refseq": "G antigen, family D, 5; X antigen family member 5; cancer/testis antigen 12.5; cancer/testis antigen family 12, member 5; g antigen family D member 5; protein XAGE-5", "tax_id": 9606, "disease": "", "pathway": " (hsa:170627)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11992404", "class_list": "", "function": "This gene is a member of the XAGE subfamily, which belongs to the GAGE family. The GAGE genes are expressed in a variety of tumors and in some fetal and reproductive tissues. The protein encoded by this gene shares a sequence similarity with other GAGE/PAGE proteins. Because of the expression pattern and the sequence similarity, this protein also belongs to a family of CT (cancer-testis) antigens. [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": "Q5JS81", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8WWM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93097-1", "uniprot_id": [ { "id": "WNT2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93097", "type": "external" } ], "mass": 43770.0, "length": 391, "protein_name": "Protein Wnt-2b", "gene_name": "WNT2B", "organism": "Human", "refseq_name": "protein Wnt-2b isoform WNT-2B1", "refseq_ac": [ { "id": "NP_004176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004176", "type": "external" } ], "gene_names_uniprotkb": "WNT2B; WNT13", "gene_names_refseq": "WNT13; WNT2B", "protein_names_uniprotkb": "Protein Wnt-2b; Protein Wnt-13", "protein_names_refseq": "XWNT2, Xenopus, homolog of; protein Wnt-2b isoform WNT-2B1; protein Wnt-2b; wingless-type MMTV integration site family, member 13; wingless-type MMTV integration site family, member 2B", "tax_id": 9606, "disease": "congenital diarrhea (Disease Ontology:DOID:0060774); endodermal sinus tumor (Disease Ontology:DOID:1911); teratoma (Disease Ontology:DOID:3307); diarrhea 9 (MONDO:MONDO:0032575)", "pathway": " (hsa:7482); (R-HSA-3238698); (R-HSA-373080)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10097073;10694878;10944466;11031247;11231171;11237011;11297558;11433298;12098667;12559132;12717451;15498814;16364628;16602827;16645052;16678095;16678096;17108000;17117926;17141155;17397399;18160347;18160348;18193032;18193037;18430724;18780401;18801728;19442504;19566487;19619488;19837038;20477987;20533886;20826466;20966082;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;29557506;29632711;29909964;35051231;3616618;36946039;37385803;38489235;38697357;39531497;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8761309;8770894;8906787;8985181;9064337;9441749", "class_list": "", "function": "Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a redundant role in embryonic lung development., [UniProtKB, UniProtKB]; This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]; WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production., [RefSeq, PubMed]; WNT2B activates macrophages via NF-kappaB signaling pathway in inflammatory bowel disease., [RefSeq, PubMed]; [Fibroblasts overpressing WNT2b cause impairment of intestinal mucosal barrier]., [RefSeq, PubMed]; [Mechanism of intestinal injury induced by WNT2B high-expressed fibroblasts in Crohn's 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": 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": 22, "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": "O14903;Q5TEH9;Q5TEI2;Q9HDC1;Q9HDC2", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0008584 male gonad development;GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway;GO:0002062 chondrocyte differentiation;GO:0071425 hematopoietic stem cell proliferation", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q93097-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AW1-1", "uniprot_id": [ { "id": "VOPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AW1", "type": "external" } ], "mass": 19224.0, "length": 172, "protein_name": "WW domain binding protein VOPP1", "gene_name": "VOPP1", "organism": "Human", "refseq_name": "WW domain binding protein VOPP1 isoform 2", "refseq_ac": [ { "id": "NP_001271211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271211", "type": "external" } ], "gene_names_uniprotkb": "VOPP1; ECOP; GASP", "gene_names_refseq": "ECOP; GASP; VOPP1; WBP1L2", "protein_names_uniprotkb": "WW domain binding protein VOPP1; ECop; EGFR-coamplified and overexpressed protein; Glioblastoma-amplified secreted protein; Putative NF-kappa-B-activating protein 055N; Vesicular, overexpressed in cancer, prosurvival protein 1", "protein_names_refseq": "EGFR-coamplified and overexpressed protein; Glioblastoma-amplified secreted protein; VOPP1, WBP1/VOPP1 family member; WW domain binding protein VOPP1 isoform 2; WW domain binding protein VOPP1; hypothetical protein DKFZp564K0822; putative NF-kappa-B-activating protein 055N; vesicular, overexpressed in cancer, prosurvival protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81552)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11230166;11237011;11916499;12761501;15735698;17515955;20571887;24715725;25418920;25469497;25502872;25892735;26811146;27846572;28904123;28936884;29437277;29557506;30229837;30285739;30315122;30410026;30429286;31844290;32083568;32157095;32502341;33141586", "class_list": "", "function": "ECOP was used as a molecular marker in patients with chronic wounds to guide surgical debridement., [RefSeq, PubMed]; Increases the transcriptional activity of NFKB1 by facilitating its nuclear translocation, DNA-binding and associated apoptotic response, when overexpressed (PubMed:15735698). May sequester WWOX in lysosomal vesicles and thereby regulate WWOX role as tumor suppressor (PubMed:30285739)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MiR-218 inhibits human lung adenocarcinoma cell migration and invasion via the suppression of Ecop and Robo1 expression, [RefSeq, PubMed]; The findings emphasize the importance of the sequestration of WWOX by VOPP1 in addition to WWOX loss in breast tumors and define VOPP1 as a novel oncogene promoting breast carcinogenesis by inhibiting the anti-tumoral effect of WWOX. Publication Status: Online-Only, [RefSeq, PubMed]; The role of vesicular overexpressed in cancer pro-survival protein 1 in hepatocellular carcinoma proliferation., [RefSeq, PubMed]; VOPP1 expression was negatively regulated by microRNA-218., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "B0AZU1;B2RAT4;B3KS72;C9JWR3;Q6FIE3;Q8NBN8;Q96RE5;Q9H0W4", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005768 endosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96AW1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JC1-1", "uniprot_id": [ { "id": "VPS39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JC1", "type": "external" } ], "mass": 101809.0, "length": 886, "protein_name": "Vam6/Vps39-like protein", "gene_name": "VPS39", "organism": "Human", "refseq_name": "vam6/Vps39-like protein isoform a", "refseq_ac": [ { "id": "NP_001288067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288067", "type": "external" } ], "gene_names_uniprotkb": "VPS39; KIAA0770; TLP; VAM6", "gene_names_refseq": "TLP; VAM6; VPS39; hVam6p", "protein_names_uniprotkb": "Vam6/Vps39-like protein; TRAP1-like protein; hVam6p", "protein_names_refseq": "TRAP1-like protein; VPS39, HOPS complex subunit; vacuolar protein sorting 39 homolog; vam6/Vps39-like protein isoform a; vam6/Vps39-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23339); (R-HSA-9754560)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "11237011;11448994;12941698;17897319;20363736;22869377;23167963;23351085;23481700;23901104;24715725;25418920;25576301;25645385;25783203;25880248;25892735;25908847;26154972;26375851;26758079;26768311;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33422265;33537174;33592498;33912179;33936100;33947832;33966045;33968037;33981976;34087483;34185709;34357683;34386498;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36284347;37821429;37938771;38253038", "class_list": "", "function": "Although only TBC1D15/Rab7-GAP altered Rab7-GTP levels, both Rab7-GAP and mVps39 regulate lysosomal morphology and play a role in maintaining growth factor dependence, [RefSeq, PubMed]; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Acts as a component of the HOPS endosomal tethering complex. This complex is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes (PubMed:23351085). Involved in homotypic vesicle fusions between late endosomes and in heterotypic fusions between late endosomes and lysosomes (PubMed:11448994, PubMed:23167963, PubMed:23351085). Required for fusion of endosomes and autophagosomes with lysosomes (PubMed:25783203, PubMed:37821429)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Propose that TLP might regulate the balance of Smad2 and Smad3 signaling by localizing Smad4 intracellularly, thus contributing to cellular specificity of TGF-beta transcriptional responses in both normal and pathophysiology, [RefSeq, PubMed]; Regulator of TGF-beta/activin signaling, inhibiting SMAD3- and activating SMAD2-dependent transcription. Acts by interfering with SMAD3/SMAD4 complex formation, this would lead to inhibition of SMAD3-dependent transcription and relieve SMAD3 inhibition of SMAD2-dependent promoters, thus increasing SMAD2-dependent transcription. Does not affect TGF-beta-induced SMAD2 or SMAD3 phosphorylation, nor SMAD2/SMAD4 complex formation., [UniProtKB, PubMed]; This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. 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": 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": "O94869;Q71SQ6;Q7Z3V3;Q96B93;Q96RM0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0030897 HOPS complex;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0097576 vacuole fusion;GO:0035542 regulation of SNARE complex assembly;GO:0006886 intracellular protein transport;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q96JC1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JG6-1", "uniprot_id": [ { "id": "VPS50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JG6", "type": "external" } ], "mass": 111174.0, "length": 964, "protein_name": "Syndetin", "gene_name": "VPS50", "organism": "Human", "refseq_name": "syndetin isoform c", "refseq_ac": [ { "id": "NP_001244927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244927", "type": "external" } ], "gene_names_uniprotkb": "VPS50; CCDC132; KIAA1861", "gene_names_refseq": "CCDC132; NEDMSC; VPS50; VPS54L", "protein_names_uniprotkb": "Syndetin; Coiled-coil domain-containing protein 132; EARP/GARPII complex subunit VPS50", "protein_names_refseq": "EARP/GARPII complex subunit VPS50; VPS50, EARP/GARPII complex subunit; coiled-coil domain containing 132; coiled-coil domain-containing protein 132; syndetin isoform c; syndetin", "tax_id": 9606, "disease": "neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis (MONDO:MONDO:0859216)", "pathway": " (hsa:55610)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;15302935;16964243;17081983;18452278;18669648;18691976;19413330;19651622;19664994;19690332;19913121;20058876;20068231;20166139;20628086;21406692;21472204;22544926;23186163;23481700;24275569;25114211;25218447;25418920;25576301;25645385;25799061;25880248;26154972;26811146;26929215;26992070;27440922;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29786170;29789417;30315122;31530632;31721635;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33912179;33968037;33981976;34037727;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37217939;39302247", "class_list": "", "function": "Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN)., [UniProtKB, PubMed]; Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "B3KX22;D1MQ00;F5H5U7;Q75N07;Q8WVK3;Q9H5C6", "ec_number_list": [], "go_molecular_function": "GO:0000149 SNARE binding", "go_cellular_component": "GO:1990745 EARP complex;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0055037 recycling endosome;GO:0070062 extracellular exosome", "go_biological_process": "GO:0015031 protein transport;GO:0032456 endocytic recycling;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q96JG6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JH7-1", "uniprot_id": [ { "id": "VCIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JH7", "type": "external" } ], "mass": 134321.0, "length": 1222, "protein_name": "Deubiquitinating protein VCPIP1", "gene_name": "VCPIP1", "organism": "Human", "refseq_name": "deubiquitinating protein VCPIP1", "refseq_ac": [ { "id": "NP_079330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079330", "type": "external" } ], "gene_names_uniprotkb": "VCPIP1; KIAA1850; VCIP135", "gene_names_refseq": "DUBA3; VCIP135; VCPIP1", "protein_names_uniprotkb": "Deubiquitinating protein VCPIP1; 3.4.19.12; VCP/p47 complex-interacting 135-kDa protein; Valosin-containing protein p97/p47 complex-interacting protein 1; Valosin-containing protein p97/p47 complex-interacting protein p135", "protein_names_refseq": "VCP/p47 complex-interacting 135-kDa protein; deubiquitinating protein VCIP135; deubiquitinating protein VCPIP1; valosin-containing protein p97/p47 complex-interacting protein 1; valosin-containing protein p97/p47 complex-interacting protein p135", "tax_id": 9606, "disease": "progeria (Disease Ontology:DOID:3911)", "pathway": " (hsa:80124); (R-HSA-5689896)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10.1101/2023.09.13.557529;10385526;11463333;12509440;14661020;15258597;15302935;15334086;18669648;19383985;19413330;19464428;19608861;19651622;19690332;19818707;19996094;20068231;20553488;21406692;22124327;22544926;23186163;23481700;23827681;24397554;24610782;24714562;24715725;25576301;25645385;25880248;25892735;25904330;26154972;26280536;26811146;26992070;27397612;27543614;27600516;27862975;27920218;28218747;28228285;28514659;28584101;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29493099;29557506;29769354;29786170;29789417;30315122;30429286;30524438;30620550;30779550;31154438;31222486;31373491;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32649882;32938616;32938750;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35132862;35254053;35289036;35580925;35705054;36010968;36241641;36284347;36581221;37340703;37938771;39531497;40307207", "class_list": "", "function": "(Microbial infection) Regulates the duration of C.botulinum neurotoxin type A (BoNT/A) intoxication by catalyzing deubiquitination of Botulinum neurotoxin A light chain (LC), thereby preventing LC degradation by the proteasome, and accelerating botulinum neurotoxin intoxication in patients., [UniProtKB, PubMed]; BoNT/A catalytic light chain binds to, and is a substrate for, the ubiquitin ligase HECTD2. However, the light chain evades proteasomal degradation by the dominant effect of a deubiquitinating enzyme, VCIP135/VCPIP1. This deubiquitinating enzyme binds BoNT/A light chain directly., [RefSeq, PubMed]; Deubiquitinating enzyme involved in DNA repair and reassembly of the Golgi apparatus and the endoplasmic reticulum following mitosis (PubMed:32649882). Necessary for VCP-mediated reassembly of Golgi stacks after mitosis (By similarity). Plays a role in VCP-mediated formation of transitional endoplasmic reticulum (tER) (By similarity). Mediates dissociation of the ternary complex containing STX5A, NSFL1C and VCP (By similarity). Also involved in DNA repair following phosphorylation by ATM or ATR: acts by catalyzing deubiquitination of SPRTN, thereby promoting SPRTN recruitment to chromatin and subsequent proteolytic cleavage of covalent DNA-protein cross-links (DPCs) (PubMed:32649882). Hydrolyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitin chains (PubMed:23827681)., [UniProtKB, PubMed, UniProtKB, PubMed]; Evidence of tyrosine phosphorylation during sperm capacitation, [RefSeq, PubMed]; Phosphorylation and ubiquitination are coordinated via VCIP135 to control Golgi membrane dynamics in the cell cycle., [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": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q504T4;Q86T93;Q86W01;Q8N3A9;Q9H5R8", "ec_number_list": [ { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0005795 Golgi stack", "go_biological_process": "GO:0043335 protein unfolding;GO:1905634 regulation of protein localization to chromatin;GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q96JH7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NR7-1", "uniprot_id": [ { "id": "WWAS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NR7", "type": "external" } ], "mass": 21356.0, "length": 200, "protein_name": "Putative uncharacterized protein WWC2-AS2", "gene_name": "WWC2-AS2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "WWC2-AS2; C4orf38", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein WWC2-AS2; WWC2 antisense RNA 2; WWC2 antisense gene protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "28411811;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": 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": "Q96NR7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99536-1", "uniprot_id": [ { "id": "VAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99536", "type": "external" } ], "mass": 41920.0, "length": 393, "protein_name": "NADPH-dependent quinone oxidoreductase VAT1", "gene_name": "VAT1", "organism": "Human", "refseq_name": "NADPH-dependent quinone oxidoreductase VAT1", "refseq_ac": [ { "id": "NP_006364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006364", "type": "external" } ], "gene_names_uniprotkb": "VAT1", "gene_names_refseq": "MIB; VAT-1; VAT1; VATI", "protein_names_uniprotkb": "NADPH-dependent quinone oxidoreductase VAT1; 1.6.5.5; MIB; Mitofusin-binding protein; Synaptic vesicle membrane protein VAT-1 homolog; VAT-1; Vesicle amine transport 1", "protein_names_refseq": "NADPH-dependent quinone oxidoreductase VAT1; membrane protein of cholinergic synaptic vesicles; mitofusin-binding protein; synaptic vesicle membrane protein VAT-1 homolog; vesicle amine transport protein 1 homolog (T. californica)", "tax_id": 9606, "disease": "", "pathway": " (hsa:10493); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11237011;12898150;16964243;17105775;17145369;18669648;19413330;19508442;20068231;23650620;24275569;25502872;25576301;25645385;25810538;25892735;26154972;26375851;26394711;26992070;27452731;27600516;27846572;28832583;28834231;29242379;29314611;29317506;29508533;29557506;29769354;29786170;30397120;30833945;31154438;31222486;31530632;31611695;31844290;31848261;32005660;32157095;32350084;32488085;32897882;32938616;32983136;33043033;33123756;33392160;33483563;33576871;33592498;33968037;34019948;34087483;34171305;35051231;35138101;35318648;35580925;36010968;36241641;36284347;37938771;38403661;38665916;39302247;7774926;8692836;8938427", "class_list": "", "function": "Identification and Characterization of Synaptic Vesicle Membrane Protein VAT-1 Homolog as a New Catechin-Binding Protein., [RefSeq, PubMed]; Multifunctional protein with enzymatic and transport activities (PubMed:17105775, PubMed:26394711, PubMed:32005660, PubMed:33483563). Probable NADPH-dependent quinone oxidoreductase which physiological substrates and function are unclear (PubMed:33483563). Alternatively, has also been suggested to mediate the transfer of negatively charged phospholipids including phosphatidic acid (PA), phosphatidylserine (PS) and phosphatidylglycerol (PG) between endoplasmic reticulum and mitochondrial membranes (PubMed:26394711, PubMed:32005660). Could regulate mitochondrial fusion through its interaction with mitofusins (PubMed:17105775)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Novel roles of VAT1 expression in the immunosuppressive action of diffuse gliomas., [RefSeq, PubMed]; Structural basis for interorganelle phospholipid transport mediated by VAT-1., [RefSeq, PubMed]; Structural insights into vesicle amine transport-1 (VAT-1) as a member of the NADPH-dependent quinone oxidoreductase family. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 4, "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": "A8K345;B0AZP7;B4DPX4;Q13035;Q5BKZ7;Q96A39;Q9BUT8", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003960 quinone reductase (NADPH) activity;GO:0008753 NADPH dehydrogenase (quinone) activity;GO:0120014 phospholipid transfer activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010637 negative regulation of mitochondrial fusion;GO:0120010 intermembrane phospholipid transfer", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q99536-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZP7-1", "uniprot_id": [ { "id": "VN1R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZP7", "type": "external" } ], "mass": 40021.0, "length": 353, "protein_name": "Vomeronasal type-1 receptor 1", "gene_name": "VN1R1", "organism": "Human", "refseq_name": "vomeronasal type-1 receptor 1", "refseq_ac": [ { "id": "NP_065684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065684", "type": "external" } ], "gene_names_uniprotkb": "VN1R1; V1RL1; VNR19I1", "gene_names_refseq": "V1RL1; VN1R1; VNR19I1; ZVNH1; ZVNR1", "protein_names_uniprotkb": "Vomeronasal type-1 receptor 1; G protein-coupled receptor GPCR24; V1r-like receptor 1; V3r-related gene protein; Vomeronasal olfactory receptor chromosome 19 subtype I member 1; hGPCR24", "protein_names_refseq": "G-protein coupled receptor GPCR24; V1R-like 1; V1r-like receptor 1; V3r-related gene protein; hGPCR24; vomeronasal olfactory receptor chromosome 19 subtype I member 1; vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1; vomeronasal type-1 receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57191)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10973240;12044878;12826614;17627382;22355687;28440809", "class_list": "", "function": "Pheromones are chemical signals that elicit specific behavioral responses and physiologic alterations in recipients of the same species. The protein encoded by this gene is similar to pheromone receptors and is primarily localized to the olfactory mucosa. An alternate splice variant of this gene is thought to exist, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Putative pheromone receptor., [UniProtKB]; Structure and function analyses of the purified GPCR human vomeronasal type 1 receptor 1, [RefSeq, PubMed]; The human VN1R1 gene are unlikely to be associated with gender and hence to contribute to distinct gender-specific behavior. GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; The reported association in this study suggests that, as a result of genetic variation, naturally occurring endogenous modulation of VN1R1 function affects women's socio-sexual behavior, and that humans thus communicate via chemo-signaling. 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": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KSV5;Q7Z5H8;Q7Z5H9", "ec_number_list": [], "go_molecular_function": "GO:0005550 pheromone binding;GO:0016503 pheromone receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0019236 response to pheromone;GO:0007606 sensory perception of chemical stimulus", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9GZP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQW7-1", "uniprot_id": [ { "id": "XPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQW7", "type": "external" } ], "mass": 69918.0, "length": 623, "protein_name": "Xaa-Pro aminopeptidase 1", "gene_name": "XPNPEP1", "organism": "Human", "refseq_name": "xaa-Pro aminopeptidase 1 isoform 2", "refseq_ac": [ { "id": "NP_001161076", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161076", "type": "external" } ], "gene_names_uniprotkb": "XPNPEP1; XPNPEPL1; XPNPEPL", "gene_names_refseq": "APP1; SAMP; XPNPEP1; XPNPEPL1; XPNPEPL; XPNPEP", "protein_names_uniprotkb": "Xaa-Pro aminopeptidase 1; 3.4.11.9; Aminoacylproline aminopeptidase; Cytosolic aminopeptidase P; Soluble aminopeptidase P; X-Pro aminopeptidase 1; X-prolyl aminopeptidase 1, soluble; sAmp", "protein_names_refseq": "X-Pro aminopeptidase 1; X-prolyl aminopeptidase (aminopeptidase P) 1, soluble; X-prolyl aminopeptidase 1, soluble; Xaa-Pro aminopeptidase 1; aminoacylproline aminopeptidase; aminopeptidase P, cytosolic; cytosolic aminopeptidase P; soluble aminopeptidase P; xaa-Pro aminopeptidase 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7511)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10871044;11106490;11237011;12665801;18515364;19608861;21052031;23301498;23481700;24715725;25880248;25892735;26154972;26992070;27846572;28510447;28904123;29351301;29351928;29437277;29557506;30315122;30833945;31020640;31154438;31844290;32157095;32161166;32350084;32387766;32488085;32897882;32938616;33141586;33592498;33912179;33936100;33968037;33981976;34171305;34211107;34229054;34357683;34405274;34433824;34509645;34725712;35008409;35051231;35154160;35165443;35251023;35580925;36215666;38665916;40914422;9465902", "class_list": "", "function": "Alanine replacement of Arg535 destabilizes the AMPP dimer and guanidine hydrochloride restores the native monomer-dimer equilibrium. It is proposed that Arg535 plays an important role in AMMP catalysis and in stabilization of the catalytically active dimeric state Publication Status: Online-Only, [RefSeq, PubMed]; Metalloaminopeptidase that catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro (PubMed:11106490, PubMed:18515364, PubMed:35165443). Contributes to the degradation of bradykinin (PubMed:11106490)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K071;G5E9Y2;G8JLB2;O15250;Q53EX6;Q8N3Q0;Q96D23", "ec_number_list": [], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0042803 protein homodimerization activity;GO:0004177 aminopeptidase activity;GO:0070006 metalloaminopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0043069 negative regulation of programmed cell death;GO:0010815 bradykinin catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9NQW7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYS7-1", "uniprot_id": [ { "id": "WSB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYS7", "type": "external" } ], "mass": 45286.0, "length": 404, "protein_name": "WD repeat and SOCS box-containing protein 2", "gene_name": "WSB2", "organism": "Human", "refseq_name": "WD repeat and SOCS box-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001265486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265486", "type": "external" } ], "gene_names_uniprotkb": "WSB2", "gene_names_refseq": "LAGNS; SBA2; WSB2", "protein_names_uniprotkb": "WD repeat and SOCS box-containing protein 2; CS box-containing WD protein; WSB-2", "protein_names_refseq": "CS box-containing WD protein; WD repeat and SOCS box-containing protein 2 isoform 1; WD repeat and SOCS box-containing protein 2; WSB-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55884); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11819827;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;20059963;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;28115426;28218747;28514659;28832583;28834231;29153394;29242379;29437277;29557506;29632046;30315122;30610225;30833945;31103822;31154438;31844290;31848261;32005965;32284348;32945370;33444648;38177295;38452206;39894887;9790970;9887101;9891082", "class_list": "", "function": "Elevated expression of WSB2 degrades p53 and activates the IGFBP3-AKT-mTOR-dependent pathway to drive hepatocellular carcinoma., [RefSeq, PubMed]; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB, UniProtKB, UniProtKB]; MiR285p inhibits the migration of breast cancer by regulating WSB2., [RefSeq, PubMed]; SBA2 gene might be a promising novel biomarker of cell differentiation in colorectal cancer and its biological features need further studies., [RefSeq, PubMed]; This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]., [RefSeq]; This is the first report to demonstrate the effects of WSB2 on melanoma cell function., [RefSeq, PubMed]; This report provides the first evidence that WSB-2 is a regulator of IL-21R expression and IL-21-induced signal transduction., [RefSeq, PubMed]; WSB1/2 target chromatin-bound lysine-methylated RelA for proteasomal degradation and NF-kappaB termination., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B4DIE6;B4DPV6;Q9NRX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0000209 protein polyubiquitination;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9NYS7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPY6-1", "uniprot_id": [ { "id": "WASF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPY6", "type": "external" } ], "mass": 55293.0, "length": 502, "protein_name": "Actin-binding protein WASF3", "gene_name": "WASF3", "organism": "Human", "refseq_name": "actin-binding protein WASF3 isoform 2", "refseq_ac": [ { "id": "NP_001278894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278894", "type": "external" } ], "gene_names_uniprotkb": "WASF3; KIAA0900; SCAR3; WAVE3", "gene_names_refseq": "Brush-1; SCAR3; WASF3; WAVE3", "protein_names_uniprotkb": "Actin-binding protein WASF3; Protein WAVE-3; Verprolin homology domain-containing protein 3; WASP family protein member 3; Wiskott-Aldrich syndrome protein family member 3", "protein_names_refseq": "WAS protein family member 3; WASP family Verprolin-homologous protein 3; actin-binding protein WASF3 isoform 2; actin-binding protein WASF3; protein WAVE-3; verprolin homology domain-containing protein 3; wiskott-Aldrich syndrome protein family member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10810); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-9013149); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 338, "publication_id_list": "10037737;10075701;10207622;10219243;10232922;10381382;10395673;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10677529;10692392;10699171;10699464;10724160;10744763;10749680;10781580;10873802;10878810;10958683;10995437;11007481;11058585;11085924;11149925;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11672528;11695992;11696015;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;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;12856283;12857875;12877655;12923183;1314888;14512443;14514689;1464587;14675773;14676198;14718541;14724572;15023524;15026417;15033976;15040784;15064355;15107133;15133129;15147912;15247219;15302923;15308668;15339924;15342493;15452139;15485661;15507211;15579468;15601624;15611138;15657136;15688067;15695828;15728722;15850391;15858067;15897194;15962004;16002401;16112081;16116428;16184169;16243036;16262445;16336962;16473593;16492808;16507994;16519628;16546099;16636067;16641196;16702231;16760434;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16966330;16968698;17030947;17077126;17145773;17188549;17196961;17199126;17202194;17214551;17237347;17244649;17293873;17308335;17583407;17599059;17623672;17686471;17702745;17765681;17804252;17976533;18006505;18045877;18070890;18218625;18249095;18347018;18391171;18396277;18426980;18653540;18838382;19230644;19267251;19269969;19494238;19605563;19673492;19713215;19741094;19934221;19955216;20400958;20460433;20658524;20679435;20810653;21037092;21148482;21419341;21445309;21542010;21565175;21613211;21730051;21834987;21865595;21989057;22004470;22096251;22298643;22327215;22407364;22475431;22608513;22689825;22734669;22970203;23209303;23216836;23255595;23288169;23434736;23572525;23675550;23707487;23718289;23940355;24086303;24259668;24335996;24352656;2474607;24859002;24933155;24960694;25024229;25211221;25428919;25704760;25721503;25795300;25862245;25880248;26129894;26529257;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;28114311;28196833;28228285;28832583;28834231;29089502;29242379;29358323;29382922;29557506;30315122;30429286;30853411;31154438;31844290;31848261;31871319;32157095;32203420;32357974;33592498;33912179;33968037;34185709;34465361;35051231;35691539;36949468;37938771;37947948;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;9013646;9099726;9113980;9182576;9305890;9393975;9398617;9438849;9472046;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9843499;9883880;9885284;9988689", "class_list": "", "function": "Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex., [UniProtKB, UniProtKB]; Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Required for regulation of cell morphology and cytoskeletal organization (PubMed:21834987)., [UniProtKB, PubMed, PubMed]; SHOX2 cooperates with STAT3 to promote breast cancer metastasis through the transcriptional activation of WASF3. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting the WASF3 complex to suppress metastasis. Review article, [RefSeq, PubMed]; The WAVE3/beta-catenin oncogenic signaling regulates chemoresistance in triple negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]., [RefSeq]; WAVE3 Facilitates the Tumorigenesis and Metastasis of Tongue Squamous Cell Carcinoma via EMT., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "O94974;Q86VQ2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0034237 protein kinase A regulatory subunit binding;GO:0071933 Arp2/3 complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005856 cytoskeleton;GO:0030027 lamellipodium;GO:0070062 extracellular exosome;GO:0098794 postsynapse", "go_biological_process": "GO:0098885 modification of postsynaptic actin cytoskeleton;GO:0030036 actin cytoskeleton organization;GO:2000601 positive regulation of Arp2/3 complex-mediated actin nucleation;GO:0030041 actin filament polymerization;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 33.9, "record_id": "Q9UPY6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2I8-1", "uniprot_id": [ { "id": "WDR37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2I8", "type": "external" } ], "mass": 54665.0, "length": 494, "protein_name": "WD repeat-containing protein 37", "gene_name": "WDR37", "organism": "Human", "refseq_name": "WD repeat-containing protein 37", "refseq_ac": [ { "id": "NP_054742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054742", "type": "external" } ], "gene_names_uniprotkb": "WDR37; KIAA0982", "gene_names_refseq": "NOCGUS; WDR37", "protein_names_uniprotkb": "WD repeat-containing protein 37", "protein_names_refseq": "WD repeat-containing protein 37", "tax_id": 9606, "disease": "neurooculocardiogenitourinary syndrome (Disease Ontology:DOID:0111675)", "pathway": " (hsa:22884)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11230166;11237011;18452278;19724895;19851296;20198315;20383146;24714562;26154972;26992070;27846572;28411811;28904123;29351928;29557506;30484775;31327508;31327510;31491411;31492838;31844290;32157095;32488085;32530092;32938616;32983136;33043033;33369122;33968037;33981976;34019948;34642815;35051231;35580925;36683218;39894887", "class_list": "", "function": "Chemotherapy-Induced Senescence Reprogramming Promotes Nasopharyngeal Carcinoma Metastasis by circRNA-Mediated PKR Activation., [RefSeq, PubMed]; Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. Review article, [RefSeq, PubMed]; Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Required for normal ER Ca2+ handling in lymphocytes. Together with PACS1, it plays an essential role in stabilizing peripheral lymphocyte populations., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; 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. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K976;D3DRQ7;Q5SW03;Q8WVG2;Q9NTJ6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0002260 lymphocyte homeostasis", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9Y2I8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6I7-1", "uniprot_id": [ { "id": "WSB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6I7", "type": "external" } ], "mass": 47432.0, "length": 421, "protein_name": "WD repeat and SOCS box-containing protein 1", "gene_name": "WSB1", "organism": "Human", "refseq_name": "WD repeat and SOCS box-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_056441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056441", "type": "external" } ], "gene_names_uniprotkb": "WSB1; SWIP1", "gene_names_refseq": "SWIP1; WSB-1; WSB1", "protein_names_uniprotkb": "WD repeat and SOCS box-containing protein 1; SOCS box-containing WD protein SWiP-1; WSB-1", "protein_names_refseq": "SOCS box-containing WD protein SWiP-1; WD repeat and SOCS box-containing protein 1 isoform 1; WD repeat and SOCS box-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26118); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 183, "publication_id_list": "10354473;10535940;10597293;10811609;10878807;10931946;10973499;11062501;11069780;11230166;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601820;15601839;15652483;15688063;15694336;15799966;15965468;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18093972;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24366607;24397554;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;26154972;26344709;26460955;26632597;26811146;26906416;26929215;26992070;27030794;27222660;27397612;27565346;27862975;27920218;28115426;28218747;28228285;28514659;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29557506;30315122;30410026;30429286;30610225;31154438;31217245;31844290;31848261;32005965;32284348;32357974;32387766;32488085;32502341;32938616;32983136;33099929;33298915;33392160;33444648;33537174;33692795;33912179;33968037;34171305;34509645;34932366;35051231;35580925;36284347;37628609;38452206;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "High expression of WSB1 is associated with poor prognosis in hepatocellular carcinoma and affects epithelial-mesenchymal transition., [RefSeq, PubMed]; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; WSB1 Involvement in Prostate Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune Responses to Ascaris lumbricoides. Publication Status: Online-Only, [RefSeq, PubMed]; WSB1/2 target chromatin-bound lysine-methylated RelA for proteasomal degradation and NF-kappaB termination., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "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": "Q9NRB1;Q9UBH9;Q9UG25;Q9UNN6;Q9Y656", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0097413 Lewy body", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0000209 protein polyubiquitination;GO:0044314 protein K27-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q9Y6I7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6S9-1", "uniprot_id": [ { "id": "KV137_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6S9", "type": "external" } ], "mass": 12688.0, "length": 117, "protein_name": "Probable non-functional immunoglobulin kappa variable 1-37", "gene_name": "IGKV1-37", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1-37", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin kappa variable 1-37", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 9, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;34357683;35051231;35580925;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 84, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MT75;A0A0E3D6N1;A0A0U1RVJ2", "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": 1.0, "record_id": "A0A075B6S9-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0JD36-1", "uniprot_id": [ { "id": "TRDV2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0JD36", "type": "external" } ], "mass": 12944.0, "length": 115, "protein_name": "T cell receptor delta variable 2", "gene_name": "TRDV2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRDV2; hDV102S1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor delta variable 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "23348415;24387714;24600447;25674089;28920588;9110172", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0045087 innate immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0JD36-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0N4Z7-1", "uniprot_id": [ { "id": "A0N4Z7_HUMAN", "url": "https://www.uniprot.org/uniprot/A0N4Z7", "type": "external" } ], "mass": 2147.0, "length": 21, "protein_name": "T cell receptor alpha joining 10", "gene_name": "TRAJ10", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ10", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 10", "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": "A0N4Z7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2MV58-1", "uniprot_id": [ { "id": "TECT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2MV58", "type": "external" } ], "mass": 63570.0, "length": 587, "protein_name": "Tectonic-1", "gene_name": "TCTN1", "organism": "Human", "refseq_name": "tectonic-1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001076006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076006", "type": "external" } ], "gene_names_uniprotkb": "TCTN1; PRO34160; TECT1", "gene_names_refseq": "JBTS13; TCTN1; TECT1", "protein_names_uniprotkb": "Tectonic-1", "protein_names_refseq": "tectonic-1 isoform 2 precursor", "tax_id": 9606, "disease": "Joubert syndrome 13 (Disease Ontology:DOID:0110982)", "pathway": " (hsa:79600); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;16357211;17574030;17646400;17719545;18037885;18694559;18801063;19004860;19081074;19940019;20112406;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;23141531;23141541;23253480;23348840;23400999;23530209;23747070;23769972;23789104;24053599;24089205;24190977;24231678;24469809;24715725;24982133;25047611;25313408;25418920;25576301;25645385;26154972;26811146;26992070;27846572;27920218;28832583;28904123;29242379;29393594;29557506;29632046;29786170;30315122;30379171;30484775;31154438;31302911;31844290;31848261;32157095;32357974;32387766;32486612;32938616;33141586;33298915;33968037;33981976;34859261;35051231;35318648;35580925;36010968;36215666;36241641;37074911;37938771;39894887", "class_list": "", "function": "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. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity)., [UniProtKB]; Function and transcriptional regulation of TCTN1 in oral squamous cell carcinoma., [RefSeq, PubMed]; MicroRNA-216a-5p inhibits the development of gastric cancer through target combination with TCTN1., [RefSeq, PubMed]; Mutations in Tctn1 is associated with ciliopathies. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Two novel TCTN1 mutations were identified in a family with Joubert syndrome, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8MX11;Q49A60;Q6P5X1;Q6UXW2;Q8NAE9;Q96N72;Q9H798", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0016020 membrane;GO:0036038 MKS complex;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0060271 cilium assembly;GO:1904491 protein localization to ciliary transition zone;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q2MV58-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6M0-1", "uniprot_id": [ { "id": "TEST_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6M0", "type": "external" } ], "mass": 34884.0, "length": 314, "protein_name": "Testisin", "gene_name": "PRSS21", "organism": "Human", "refseq_name": "testisin isoform 4 preproprotein", "refseq_ac": [ { "id": "NP_001257381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257381", "type": "external" } ], "gene_names_uniprotkb": "PRSS21; ESP1; PRO303; TEST1", "gene_names_refseq": "ESP-1; ESP1; PRSS21; TEST1; TESTISIN", "protein_names_uniprotkb": "Testisin; 3.4.21.-; ESP-1; Eosinophil serine protease 1; Serine protease 21", "protein_names_refseq": "eosinophil serine protease 1; protease, serine 21; serine protease from eosinophils; testisin isoform 4 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10942); (R-HSA-163125)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;10397266;10600542;11004480;11072085;11237011;12975309;15685234;16810501;19531498;19571264;20068231;20211623;24190977;2443973;25519908;26992070;29242379;29393594;32161166;32350084;34019948;3422494;35051231;35251023;35580925;36241641;9826525", "class_list": "", "function": "Could regulate proteolytic events associated with testicular germ cell maturation., [UniProtKB]; Loss of Testisin is caused, at least in part, by DNA hypermethylation and histone deacetylation, and suggest a tumour suppressor role for Testisin in testicular tumorigenesis. Erratum:[Br J Cancer. 2015 Dec 1;113(11):1640. doi: 10.1038/bjc.2015.384. PMID: 26625217], [RefSeq, PubMed]; Testisin activates PAR-2, inducing PAR-2 loss from the cell surface, internalization, and cellular signaling., [RefSeq, PubMed]; Testisin may promote carcinogenesis by inhibiting tumor suppressor activity of maspin., [RefSeq, PubMed]; The results demonstrate for the first time that aberrant methylation of specific CpG sites near the transcription initiation site is an important factor in testisin gene silencing in TGCT., [RefSeq, PubMed]; These data suggest that aberrant regulation of PRSS21 may underlie certain secondary male infertility syndromes, such as 'easily decapitated' spermatozoa in humans., [RefSeq, PubMed]; This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9NS34;Q9P2V6", "ec_number_list": [ { "id": "3.4.11.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.9", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.4.17.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.12", "type": "external" }, { "id": "3.1.4.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.50", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9Y6M0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H267-1", "uniprot_id": [ { "id": "VP33B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H267", "type": "external" } ], "mass": 70585.0, "length": 617, "protein_name": "Vacuolar protein sorting-associated protein 33B", "gene_name": "VPS33B", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 33B isoform 3", "refseq_ac": [ { "id": "NP_001276078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276078", "type": "external" } ], "gene_names_uniprotkb": "VPS33B", "gene_names_refseq": "KDIDAR; PFIC12; VPS33B", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 33B; hVPS33B", "protein_names_refseq": "vacuolar protein sorting 33 homolog B; vacuolar protein sorting 33-like protein B; vacuolar protein sorting-associated protein 33B isoform 3; vacuolar protein sorting-associated protein 33B", "tax_id": 9606, "disease": "ARC syndrome (Disease Ontology:DOID:0050763); progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221); arthrogryposis multiplex congenita (Disease Ontology:DOID:0080954); arthrogryposis, renal dysfunction, and cholestasis 1 (Disease Ontology:DOID:0111353); cholestasis (Disease Ontology:DOID:13580); kidney disease (Disease Ontology:DOID:557); cholestasis, progressive familial intrahepatic, 12 (MONDO:MONDO:0031040); keratoderma-ichthyosis-deafness syndrome, autosomal recessive (MONDO:MONDO:0859278)", "pathway": " (hsa:26276); (R-HSA-9636383); (R-HSA-9754560)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10894945;11237011;11250079;15052268;15280044;15790593;17652161;18474358;18853461;19109425;20098737;20190753;21411634;22753090;23481700;23901104;23918659;24366607;24714562;25418920;25642820;25892735;26811146;26992070;27600516;27846572;27920218;28017832;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;30315122;30561130;31217245;31479177;31530632;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33141586;33298915;33422265;33592498;33633747;33717175;33788346;33912179;33947832;33966045;33968037;33981976;34171305;34357683;34386498;34905616;35051231;35251023;35289036;35494241;36232726;37062417", "class_list": "", "function": "A and B classes reflect the evolution of organelle/tissue-specific functions, [RefSeq, PubMed]; Encodes a homolog of the class C yeast vacuolar protein sorting gene, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion, [RefSeq, PubMed]; May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Required for proper trafficking and targeting of the collagen-modifying enzyme lysyl hydroxylase 3 (LH3) to intracellular collagen (PubMed:28017832). Mediates phagolysosomal fusion in macrophages (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet alpha-granules., [RefSeq, PubMed]; The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B., [RefSeq, PubMed]; VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer. Erratum:[Cancer Sci. 2021 Jul;112(7):2931. doi: 10.1111/cas.15030. PMID: 34214226], [RefSeq, PubMed]; Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KQF6;Q96K14;Q9NRP6;Q9NSF3", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0030897 HOPS complex;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0070889 platelet alpha granule organization;GO:0006886 intracellular protein transport;GO:0015031 protein transport;GO:0007032 endosome organization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9H267-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q66K14-1", "uniprot_id": [ { "id": "TBC9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q66K14", "type": "external" } ], "mass": 140525.0, "length": 1250, "protein_name": "TBC1 domain family member 9B", "gene_name": "TBC1D9B", "organism": "Human", "refseq_name": "TBC1 domain family member 9B isoform b", "refseq_ac": [ { "id": "NP_055858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055858", "type": "external" } ], "gene_names_uniprotkb": "TBC1D9B; KIAA0676", "gene_names_refseq": "GRAMD9B; TBC1D9B", "protein_names_uniprotkb": "TBC1 domain family member 9B", "protein_names_refseq": "TBC1 domain family member 9B isoform b; TBC1 domain family, member 9B (with GRAM domain)", "tax_id": 9606, "disease": "nephrotic syndrome type 20 (Disease Ontology:DOID:0070357)", "pathway": " (hsa:23061)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;18669648;18691976;18767875;19369195;19413330;19690332;20068231;22544926;22645359;23186163;24275569;24715725;25576301;25880248;26154972;26811146;26992070;27846572;28904123;29437277;29493099;29557506;30202024;30429286;30620550;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33936100;33968037;34087483;34171305;34211107;34405274;34509645;34561969;35051231;35132862;35494241;35561310;35580925;36010968;36215666;36241641;36284347;37938771", "class_list": "", "function": "May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB]; Study found that TBC1D9B, a GTPase activating protein for RAB11A, interacted with LC3B. TBC1D9B could also interact with other mammalian ATG8 homologues and revealed that TBC1D9B can positively regulate autophagic flux, possibly through its GTPase activity to inactivate RAB11A, facilitating the proper destination of the autophagosomes to the degradation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "D3DWQ5;D3DWQ6;O75163;Q53EY0;Q6MZI2;Q96H49", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0003008 system process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q66K14-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3M8-1", "uniprot_id": [ { "id": "STA13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3M8", "type": "external" } ], "mass": 124967.0, "length": 1113, "protein_name": "StAR-related lipid transfer protein 13", "gene_name": "STARD13", "organism": "Human", "refseq_name": "stAR-related lipid transfer protein 13 isoform 5", "refseq_ac": [ { "id": "NP_001230395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230395", "type": "external" } ], "gene_names_uniprotkb": "STARD13; DLC2; GT650", "gene_names_refseq": "ARHGAP37; DLC2; GT650; LINC00464; STARD13", "protein_names_uniprotkb": "StAR-related lipid transfer protein 13; 46H23.2; DLC-2; Deleted in liver cancer 2 protein; Rho GTPase-activating protein; START domain-containing protein 13; StARD13", "protein_names_refseq": "Rho GTPase activating protein on chromosome 13q12; StAR-related lipid transfer (START) domain containing 13; deleted in liver cancer 2 protein; long intergenic non-protein coding RNA 464; stAR-related lipid transfer protein 13 isoform 5; stAR-related lipid transfer protein 13", "tax_id": 9606, "disease": "gonadal dysgenesis (Disease Ontology:DOID:14447)", "pathway": " (hsa:90627); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148)", "pathway_count": 5, "publication_count": 315, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12473120;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14697242;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15850391;15866170;15897194;15944396;16112081;16116428;16184169;16217026;16364308;16467373;16519628;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16968698;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17380510;17562871;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18045877;18056264;18077418;18158243;18218625;18363964;18426980;18653540;18786931;18802007;18829452;18835169;18838382;18929667;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20058876;20101212;20400958;20591975;20628200;20660154;20679435;21148482;21351730;21373644;21454492;21542010;21565175;21576392;21613211;21685891;21699497;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22461490;22571869;22608513;22645359;22673745;22790947;22911862;22970203;22992742;23200924;23255595;23316797;23406282;23434736;23481700;23572525;23718289;23870313;24086303;24128008;24259668;24335996;24352656;24366607;24584464;24715725;24933155;24996924;25024229;25211221;25418920;25425145;25576301;25645385;25673874;25704760;25721503;25795300;25862245;25880248;25963737;26129894;26154972;26299518;26371245;26375851;26529257;26598554;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27600516;27798618;27920218;27986909;28028151;28112683;28196833;28228285;28584191;28825699;28832583;28860633;28904123;29146911;29242379;29393594;29493099;29508533;29557506;29632046;30061681;30315122;30379171;30429286;30853411;31105010;31154438;31217245;31530632;31844290;31848261;31871319;31937595;32157095;32203420;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33592498;33912179;33968037;34185709;34211107;34281560;34509645;34958986;35051231;35119587;35254053;35494241;35580925;36010968;36284347;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8994827;9013646;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970;9843499;9846874", "class_list": "", "function": "GTPase-activating protein for RhoA, and perhaps for Cdc42. May be involved in regulation of cytoskeletal reorganization, cell proliferation and cell motility. Acts a tumor suppressor in hepatocellular carcinoma cells., [UniProtKB, PubMed, PubMed]; Has GAP activity specific for RhoA and Cdc42; inhibits the Rho mediated assembly of actin stress fibers in cultured cells and is underexpressed in hepatocellular carcinoma tissues, [RefSeq, PubMed]; In the present review, we discuss the family of RhoGTPases, their regulation and their RhoGAPs, focusing mainly on STARD13. [review] Review article, [RefSeq, PubMed]; LINC01089 suppresses lung adenocarcinoma cell proliferation and migration via miR-301b-3p/STARD13 axis. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-9-5p Facilitates Lung Adenocarcinoma Cell Malignant Progression via Targeting STARD13., [RefSeq, PubMed]; StarD13 negatively regulates invadopodia formation and invasion in high-grade serous (HGS) ovarian adenocarcinoma cells by inhibiting Cdc42., [RefSeq, PubMed]; This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 3, "reported_glycation": 0, "reported_snv": 36, "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": "A2A309;A2A310;Q5HYH1;Q5TAE3;Q6UN61;Q86TP6;Q86WQ3;Q86XT1", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:0097498 endothelial tube lumen extension;GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 32.1, "record_id": "Q9Y3M8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EM0-1", "uniprot_id": [ { "id": "T3HPD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EM0", "type": "external" } ], "mass": 38138.0, "length": 354, "protein_name": "Trans-3-hydroxy-L-proline dehydratase", "gene_name": "L3HYPDH", "organism": "Human", "refseq_name": "trans-3-hydroxy-L-proline dehydratase isoform a", "refseq_ac": [ { "id": "NP_653182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653182", "type": "external" } ], "gene_names_uniprotkb": "L3HYPDH; C14orf149", "gene_names_refseq": "C14orf149; L3HYPDH", "protein_names_uniprotkb": "Trans-3-hydroxy-L-proline dehydratase; 4.2.1.77; Trans-L-3-hydroxyproline dehydratase", "protein_names_refseq": "L-3-hydroxyproline dehydratase (trans-); trans-3-hydroxy-L-proline dehydratase isoform a; trans-3-hydroxy-l-proline dehydratase; trans-3-hydroxyl-L-proline dehydratase", "tax_id": 9606, "disease": "", "pathway": " (hsa:112849)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;22528483;23301498;24649405;24714562;25418920;25576301;26728094;26992070;27600516;27846572;29557506;31154438;31844290;31848261;32157095;32387766;32488085;32502341;32983136;33592498;33912179;34019948;34185709;35051231;35580925;36010968;37938771", "class_list": "", "function": "Catalyzes the dehydration of trans-3-hydroxy-L-proline to Delta(1)-pyrroline-2-carboxylate (Pyr2C). May be required to degrade trans-3-hydroxy-L-proline from the diet and originating from the degradation of proteins such as collagen-IV that contain it., [UniProtKB, PubMed]; Human trans-3-hydroxy-L-proline dehydratase is the first characterized member of a novel family of proline racemase-like enzymes, [RefSeq, PubMed]; The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [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": 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": "Q96LJ5", "ec_number_list": [ { "id": "4.2.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.77", "type": "external" } ], "go_molecular_function": "GO:0050346 trans-L-3-hydroxyproline dehydratase activity;GO:0016836 hydro-lyase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96EM0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09544-1", "uniprot_id": [ { "id": "WNT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P09544", "type": "external" } ], "mass": 40418.0, "length": 360, "protein_name": "Protein Wnt-2", "gene_name": "WNT2", "organism": "Human", "refseq_name": "protein Wnt-2 precursor", "refseq_ac": [ { "id": "NP_003382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003382", "type": "external" } ], "gene_names_uniprotkb": "WNT2; INT1L1; IRP", "gene_names_refseq": "INT1L1; IRP; WNT2", "protein_names_uniprotkb": "Protein Wnt-2; IRP; Int-1-like protein 1; Int-1-related protein", "protein_names_refseq": "Int-1-related protein; epididymis secretory sperm binding protein; int-1-like protein 1; protein Wnt-2 precursor; protein Wnt-2; secreted growth factor; wingless-type MMTV integration site family member 2", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); endometrial carcinoma (Disease Ontology:DOID:2871); breast carcinoma (Disease Ontology:DOID:3459); urinary system cancer (Disease Ontology:DOID:3996); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:7472); (R-HSA-3238698); (R-HSA-373080)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10694878;11031247;11231171;11237011;11297558;11433298;11449391;11840514;12098667;12559132;12717451;15498814;16364628;16602827;16645052;16678095;16678096;17108000;17117926;17141155;17397399;18160347;18160348;18193032;18193037;18430724;18801728;19442504;19566487;19619488;19837038;20018874;20477987;20533886;20826466;20966082;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;2971536;34477243;34666560;34862305;35037695;35051231;3616618;37217939;39068999;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337", "class_list": "", "function": "A translational exploration of the effects of WNT2 variants on altered cortical structures in autism spectrum disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Distinguishing colorectal adenoma from hyperplastic polyp by WNT2 expression., [RefSeq, PubMed]; Exploring WNT2 polymorphisms in comitant strabismus: A genetic association study., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:20018874). Functions as a upstream regulator of FGF10 expression. Plays an important role in embryonic lung development. May contribute to embryonic brain development by regulating the proliferation of dopaminergic precursors and neurons (By similarity)., [UniProtKB, PubMed, UniProtKB]; Overexpression of IL-8 and Wnt2 is associated with prognosis of gastric cancer., [RefSeq, PubMed]; Prognostic Significance of Wnt1, Wnt2, E-Cadherin, and beta-catenin Expression in Operable Non-small Cell Lung Cancer., [RefSeq, PubMed]; This gene is a member of the WNT gene family. 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. Alternatively spliced transcript variants 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": 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": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D0V1;Q75N05;Q9UDP9", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:1990909 Wnt signalosome", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071300 cellular response to retinoic acid;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P09544-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13889-1", "uniprot_id": [ { "id": "TF2H3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13889", "type": "external" } ], "mass": 34378.0, "length": 308, "protein_name": "General transcription factor IIH subunit 3", "gene_name": "GTF2H3", "organism": "Human", "refseq_name": "general transcription factor IIH subunit 3 isoform b", "refseq_ac": [ { "id": "NP_001258795", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258795", "type": "external" } ], "gene_names_uniprotkb": "GTF2H3", "gene_names_refseq": "BTF2; GTF2H3; P34; TFB4; TFIIH", "protein_names_uniprotkb": "General transcription factor IIH subunit 3; BTF2 p34; Basic transcription factor 2 34 kDa subunit; General transcription factor IIH polypeptide 3; TFIIH basal transcription factor complex p34 subunit", "protein_names_refseq": "TFIIH basal transcription factor complex p34 subunit; basic transcription factor 2 34 kDa subunit; general transcription factor IIH subunit 3 isoform b; general transcription factor IIH, polypeptide 3, 34kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:2967); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075)", "pathway_count": 30, "publication_count": 214, "publication_id_list": "10024882;10082553;10199401;10471499;10526214;10723029;10734143;10757782;10866664;10913176;10916156;10944529;10984493;11007478;11141066;11237011;11250901;11278856;11313498;11313499;11350971;11433015;11486021;11511374;11739720;11784853;11859374;11884399;11904382;11971958;11988847;12080057;12208738;12370301;12393749;12646563;12653964;12660172;12676794;12732143;1310361;14517266;14610093;14701750;14969726;15220921;1547496;15489290;15590680;15781865;15989964;16030353;16246722;16491090;16751180;17000769;17234882;17290000;17318177;17355984;17466625;17466626;17499042;17948053;17981804;18079701;18157150;18614043;19056823;19279666;1939271;19661379;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20068231;20159561;20227374;20368362;20541997;20876134;21070792;21282463;22012619;22081108;22118460;22466610;22466611;22466612;22805593;22902626;22982363;22988298;23038248;23045548;23352696;23481700;23538671;23751493;23906714;23973375;24127601;24354960;24402227;2449431;24554720;24662513;25154395;25418920;25429106;25435140;25538220;25561469;25576301;25645385;25712099;25916849;26042670;26151477;26154972;26375851;26659056;26811146;26929215;26992070;27193682;27397612;27418187;27418309;27920218;2805069;28218747;28228285;28297668;28832583;28834231;28904123;28977422;29242379;29393594;29632046;29789417;30315122;30524438;31154438;31253769;31844290;31848261;31937595;32157095;32355176;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33902107;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;36241641;37938771;7151173;7491500;7559382;7597036;7601352;7660122;7660129;7660130;7700386;7801123;7853496;8078911;8156590;8194529;8330735;8370526;8465201;8490964;8692841;8876179;8946909;9063748;9130708;9256425;9326587;9353262;9405375;9450929;9489704;9512541;9582279;9699634;9716411;9765293;9771713;9790902;9852112;9857195;9875289", "class_list": "", "function": "Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Interface variants between the p34 and p44 subunits only mildly affected the association between the full length proteins and did not impinge on TFIIH activities due to the presence of an additional interface involving the C4 domain of p34., [RefSeq, PubMed]; This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R819;B4DNZ6;Q7L0G0;Q96AT7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005675 transcription factor TFIIH holo complex;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006355 regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006289 nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q13889-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZT5-1", "uniprot_id": [ { "id": "WN10A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZT5", "type": "external" } ], "mass": 46444.0, "length": 417, "protein_name": "Protein Wnt-10a", "gene_name": "WNT10A", "organism": "Human", "refseq_name": "protein Wnt-10a precursor", "refseq_ac": [ { "id": "NP_079492", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079492", "type": "external" } ], "gene_names_uniprotkb": "WNT10A", "gene_names_refseq": "ECTD16; OODD; SSPS; STHAG4; WNT10A", "protein_names_uniprotkb": "Protein Wnt-10a", "protein_names_refseq": "protein Wnt-10a precursor; protein Wnt-10a; wingless-type MMTV integration site family, member 10A", "tax_id": 9606, "disease": "tooth agenesis (Disease Ontology:DOID:0050591); Schopf-Schulz-Passarge syndrome (Disease Ontology:DOID:0111647); ectodermal dysplasia (Disease Ontology:DOID:2121); odonto-onycho-dermal dysplasia (MONDO:MONDO:0009773)", "pathway": " (hsa:80326); (R-HSA-3238698); (R-HSA-373080)", "pathway_count": 3, "publication_count": 110, "publication_id_list": "10097073;10694878;11031247;11231171;11237011;11297558;11350055;11433298;12098667;12559132;12717451;15498814;16364628;16602827;16645052;16678095;16678096;16953426;17108000;17117926;17141155;17397399;17847007;18160347;18160348;18193032;18193037;18430724;18801728;19442504;19471313;19559398;19566487;19619488;19837038;20477987;20533886;20826466;20966082;20979233;21143469;21484994;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22581971;22653731;22784633;22888000;22952392;22983114;23148298;23260141;23401279;23481700;24190977;24311251;24449199;24458874;26154972;27657131;27846572;27920218;28228285;28446606;28589954;28832583;29178643;29242379;30046887;30315122;30459171;31222486;31844290;32938616;33392160;33691108;33912179;35051231;35537890;3616618;37217939;37422997;37566620;37671665;38273178;38280992;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337", "class_list": "", "function": "C.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in an autosomal recessive ectodermal dysplasia: odonto-onycho-dermal dysplasia, [RefSeq, PubMed]; Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:28589954, PubMed:29178643). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium (PubMed:28589954). Required for normal hair follicle function (PubMed:28589954)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family., [RefSeq, PubMed]; SENP3 Promotes Mantle Cell Lymphoma Development through Regulating Wnt10a Expression., [RefSeq, PubMed]; Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss., [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 is strongly expressed in the cell lines of promyelocytic leukemia and Burkitt's lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008]., [RefSeq]; 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]", "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": 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": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53S44;Q96TA7;Q9H7S8", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0048733 sebaceous gland development;GO:0030182 neuron differentiation;GO:0001942 hair follicle development;GO:0071560 cellular response to transforming growth factor beta stimulus;GO:0042476 odontogenesis", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9GZT5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P53-1", "uniprot_id": [ { "id": "WDFY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P53", "type": "external" } ], "mass": 45154.0, "length": 400, "protein_name": "WD repeat and FYVE domain-containing protein 2", "gene_name": "WDFY2", "organism": "Human", "refseq_name": "WD repeat and FYVE domain-containing protein 2", "refseq_ac": [ { "id": "NP_443182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443182", "type": "external" } ], "gene_names_uniprotkb": "WDFY2; WDF2; ZFYVE22", "gene_names_refseq": "PROF; WDF2; WDFY2; ZFYVE22", "protein_names_uniprotkb": "WD repeat and FYVE domain-containing protein 2; Prof; Propeller-FYVE protein; WD40- and FYVE domain-containing protein 2; Zinc finger FYVE domain-containing protein 22", "protein_names_refseq": "WD repeat and FYVE domain-containing protein 2; WD40 and FYVE domain containing 2; WD40- and FYVE domain-containing protein 2; propeller-FYVE protein; zinc finger FYVE domain-containing protein 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:115825)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;16792529;16873553;17313651;18388859;20112406;24675677;25418920;25892735;26992070;28228285;29242379;29393594;29557506;29786170;31253801;31789342;31844290;32387766;32938616;32983136;33141586;33392160;33968037;34509645;34932366;35051231;36780172", "class_list": "", "function": "Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2 (PubMed:17313651). Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1 (PubMed:18388859). Plays a role in endosomal control of AKT2 signaling; required for insulin-stimulated AKT2 phosphorylation and glucose uptake and insulin-stimulated phosphorylation of AKT2 substrates (By similarity). Participates in transferrin receptor endocytosis (PubMed:16873553)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; CDKN2D-WDFY2 fusion could be an important molecular signature for understanding and classifying sub-lineages among heterogeneous high-grade serous ovarian carcinomas. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0115118 regulates endometrial functions through the miR-138-1-3p/WDFY2 axis in patients with PCOSdagger., [RefSeq, PubMed]; P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development., [RefSeq, PubMed]; Presence of ProF increases the PKCzeta-dependent phosphorylation of VAMP2 in vitro, [RefSeq, PubMed]; The ProF protein partially co-localizes with EEA1 on vesicular structures and binds to the protein kinases Akt and PKCzeta/lambda (protein kinase Czeta/lambda) via its WD-repeat propeller., [RefSeq, PubMed]; This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]., [RefSeq]; WDFY2 regulates exocytosis of MT1-MMP by controlling endosomal sorting of the v-SNARE VAMP3. Publication Status: Online-Only, [RefSeq, PubMed]; WDFY2, the WD40 and FYVE domain containing protein 2, has roles in endocytosis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B1AL86;Q96CS1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005769 early endosome;GO:0031982 vesicle", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0045600 positive regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96P53-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H3BS89-1", "uniprot_id": [ { "id": "T178B_HUMAN", "url": "https://www.uniprot.org/uniprot/H3BS89", "type": "external" } ], "mass": 33409.0, "length": 294, "protein_name": "Transmembrane protein 178B", "gene_name": "TMEM178B", "organism": "Human", "refseq_name": "transmembrane protein 178B precursor", "refseq_ac": [ { "id": "NP_001182207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182207", "type": "external" } ], "gene_names_uniprotkb": "TMEM178B", "gene_names_refseq": "TMEM178B", "protein_names_uniprotkb": "Transmembrane protein 178B", "protein_names_refseq": "transmembrane protein 178B precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507421)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1101/2023.09.13.557529;29242379;29557506;31018906;31154438;31844290;31848261;37534578;37938771", "class_list": "", "function": "Tmem178 Negatively Regulates IL-1beta Production Through Inhibition of the NLRP3 Inflammasome., [RefSeq, PubMed]; Tmem178 modulates the rate-limiting step of STIM1 puncta formation and therefore controls SOCE in inflammatory conditions., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "H3BS89-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29083-1", "uniprot_id": [ { "id": "T2EA_HUMAN", "url": "https://www.uniprot.org/uniprot/P29083", "type": "external" } ], "mass": 49452.0, "length": 439, "protein_name": "General transcription factor IIE subunit 1", "gene_name": "GTF2E1", "organism": "Human", "refseq_name": "general transcription factor IIE subunit 1", "refseq_ac": [ { "id": "NP_005504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005504", "type": "external" } ], "gene_names_uniprotkb": "GTF2E1; TF2E1", "gene_names_refseq": "FE; GTF2E1; TF2E1; TFIIE-A", "protein_names_uniprotkb": "General transcription factor IIE subunit 1; General transcription factor IIE 56 kDa subunit; TFIIE-alpha; Transcription initiation factor IIE subunit alpha", "protein_names_refseq": "TFIIE alpha subunit; TFIIE-alpha; general transcription factor IIE 56 kDa subunit; general transcription factor IIE subunit 1; general transcription factor IIE, polypeptide 1, alpha 56kDa; transcription initiation factor IIE subunit alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:2960); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6807505); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 10, "publication_count": 134, "publication_id_list": "10022900;10024882;10199401;10723029;11237011;11433015;11486021;11739720;11784853;11856838;11859374;11884399;12414730;12574128;12676794;12750860;1310361;14701755;1535687;15489290;15843171;16239144;16308568;16901896;1739980;18079403;1829677;18669648;19106100;1939271;1956398;1956403;19608861;19667075;20068231;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23932780;24097444;24270878;24397554;2449431;24715725;24997600;25418920;25675981;25810538;26154972;26811146;26992070;27193682;27920218;28510447;28832583;28834231;28904123;29242379;29331515;29393594;2944599;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30779550;31154438;31222486;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33936100;33968037;33981976;34019948;34553694;34561969;34581812;35051231;35580925;36241641;37938771;40914422;7151173;7601352;7651391;7660122;7660129;7660130;7667268;7715707;8156590;8253082;8330735;8339931;8370526;8465201;8490964;8628262;8668525;8946909;9009278;9153304;9188510;9256425;9353262;9405375;9407024;9450929;9489704;9705341;9832505", "class_list": "", "function": "MicroRNA 452 regulates GTF2E1 expression in colorectal cancer cells., [RefSeq, PubMed]; Nucleolar TFIIE plays a role in ribosomal biogenesis and performance., [RefSeq, PubMed]; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q16103", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005673 transcription factor TFIIE complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P29083-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15313-1", "uniprot_id": [ { "id": "VATB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15313", "type": "external" } ], "mass": 56833.0, "length": 513, "protein_name": "V-type proton ATPase subunit B, kidney isoform", "gene_name": "ATP6V1B1", "organism": "Human", "refseq_name": "V-type proton ATPase subunit B, kidney isoform", "refseq_ac": [ { "id": "NP_001683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001683", "type": "external" } ], "gene_names_uniprotkb": "ATP6V1B1; ATP6B1; VATB; VPP3", "gene_names_refseq": "ATP6B1; ATP6V1B1; DRTA2; RTA1B; VATB; VMA2; VPP3", "protein_names_uniprotkb": "V-type proton ATPase subunit B, kidney isoform; Endomembrane proton pump 58 kDa subunit; V-ATPase subunit B 1; Vacuolar proton pump subunit B 1", "protein_names_refseq": "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; H(+)-transporting two-sector ATPase, 58kD subunit; H+-ATPase beta 1 subunit; V-ATPase B1 subunit; V-ATPase subunit B 1; V-type proton ATPase subunit B, kidney isoform; endomembrane proton pump 58 kDa subunit; vacuolar proton pump 3; vacuolar proton pump subunit B 1; vacuolar proton pump, subunit 3", "tax_id": 9606, "disease": "enlarged vestibular aqueduct (Disease Ontology:DOID:0050332); autosomal recessive nonsyndromic deafness (Disease Ontology:DOID:0050565); follicular lymphoma (Disease Ontology:DOID:0050873); renal tubular acidosis (Disease Ontology:DOID:14219); epilepsy (Disease Ontology:DOID:1826); renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (MONDO:MONDO:0009968)", "pathway": " (hsa:525); (R-HSA-1222556); (R-HSA-77387); (R-HSA-917977); (R-HSA-9639288); (R-HSA-983712)", "pathway_count": 6, "publication_count": 117, "publication_id_list": "10029572;10409623;10802645;11237011;11237855;11779865;11800564;11970843;12414817;12444018;12531241;12579397;15854902;15878852;16098514;16227996;16271887;16564538;16574064;16609065;16769747;16793765;17051221;17470430;17662945;17729390;18406720;18497260;18604198;18794901;19089323;19321446;19478356;20134026;20381137;21124855;22053050;22087256;22575674;22980980;23723238;24081491;24095279;24715725;25259925;25263562;2527371;25457612;25561175;25567906;25819761;26154972;26205815;26449471;26586190;26972053;27308486;27487210;27535533;27648300;28066558;28199306;28199315;2825632;28467828;2848506;28904123;29053970;29056322;29123071;29236692;29493099;29557506;29596046;2986535;29993276;30061680;30181260;30337524;30429286;3061785;30651352;31092671;31733597;31844290;32001091;32350084;32357974;32387766;32488085;33141586;33392160;33592498;33717175;33912179;33936100;34157794;34185709;34433824;35051231;35301649;36215666;36284347;37938771;6141558;6309857;7499430;7929063;7980580;8300632;8537108;8682206;8995282;9465039;9609117;9793760;9916796", "class_list": "", "function": "Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco., [RefSeq, PubMed]; Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay., [RefSeq, PubMed]; Non-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:16769747). 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 (PubMed:32001091). Essential for the proper assembly and activity of V-ATPase (PubMed:16769747). In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification (PubMed:16769747). Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; Our study indicates the importance contribution of ATP6V1B1 gene mutations to the pathogenesis of the dRTA in the Algerian population and will contribute to introducing principles to predict the characteristics of the dRTA in patients., [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 B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [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": 1, "reported_glycation": 0, "reported_snv": 3, "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": "Q53FY0;Q6P4H6", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0044877 protein-containing complex binding;GO:0015078 proton transmembrane transporter activity;GO:0046961 proton-transporting ATPase activity, rotational mechanism", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0042472 inner ear morphogenesis;GO:0016241 regulation of macroautophagy;GO:0007605 sensory perception of sound;GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly;GO:0001503 ossification", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P15313-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56706-1", "uniprot_id": [ { "id": "WNT7B_HUMAN", "url": "https://www.uniprot.org/uniprot/P56706", "type": "external" } ], "mass": 39327.0, "length": 349, "protein_name": "Protein Wnt-7b", "gene_name": "WNT7B", "organism": "Human", "refseq_name": "protein Wnt-7b isoform 2 precursor", "refseq_ac": [ { "id": "NP_478679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_478679", "type": "external" } ], "gene_names_uniprotkb": "WNT7B", "gene_names_refseq": "WNT7B", "protein_names_uniprotkb": "Protein Wnt-7b", "protein_names_refseq": "protein Wnt-7b isoform 2 precursor; protein Wnt-7b; wingless-type MMTV integration site family, member 7B", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); breast fibroadenoma (Disease Ontology:DOID:1618)", "pathway": " (hsa:7477); (R-HSA-3238698); (R-HSA-373080)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;10097073;10694878;11031247;11231171;11237011;11297558;11433298;11562755;12098667;12559132;12717451;15498814;16227623;16364628;16602827;16645052;16678095;16678096;17108000;17117926;17141155;17397399;18160347;18160348;18193032;18193037;18430724;18477386;18801728;19442504;19566487;19619488;19837038;20477987;20533886;20826466;20966082;21554866;21725318;21725319;21768372;21886182;22027831;22041890;22046319;22094269;22094272;22108505;22653731;22784633;22888000;22952392;22983114;23148298;23260141;30026314;32161166;35790350;3616618;36472725;36517590;37074911;38417950;38734188;6950381;7797535;8082781;8167409;8168088;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9064337", "class_list": "", "function": "A founder variant expands the phenotype of WNT7B-related PDAC syndrome., [RefSeq, PubMed]; Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans., [RefSeq, PubMed]; EZH2 interacts with HP1BP3 to epigenetically activate WNT7B that promotes temozolomide resistance in glioblastoma., [RefSeq, PubMed]; Inhibition of Wnt7b reduces the proliferation, invasion, and migration of colorectal cancer cells., [RefSeq, PubMed]; LINC01605 promotes malignant phenotypes of cervical cancer via miR-149-3p/WNT7B axis., [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors that functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:30026314). Required for normal fusion of the chorion and the allantois during placenta development (By similarity). Required for central nervous system (CNS) angiogenesis and blood-brain barrier regulation (PubMed:30026314)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB]; This gene is a member of the WNT gene family, which consists of structurally related genes that 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. Among members of the human WNT family, this gene product is most similar to WNT7A protein. [provided by RefSeq, Oct 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": 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": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B8A596;Q96Q12", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0060535 trachea cartilage morphogenesis;GO:0016332 establishment or maintenance of polarity of embryonic epithelium;GO:0032536 regulation of cell projection size;GO:0060482 lobar bronchus development;GO:0072060 outer medullary collecting duct development", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P56706-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XT2-1", "uniprot_id": [ { "id": "VP37D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XT2", "type": "external" } ], "mass": 27730.0, "length": 251, "protein_name": "Vacuolar protein sorting-associated protein 37D", "gene_name": "VPS37D", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 37D", "refseq_ac": [ { "id": "NP_001071089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071089", "type": "external" } ], "gene_names_uniprotkb": "VPS37D; WBSCR24", "gene_names_refseq": "VPS37D; WBSCR24", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 37D; ESCRT-I complex subunit VPS37D; Williams-Beuren syndrome chromosomal region 24 protein", "protein_names_refseq": "ESCRT-I complex subunit VPS37D; VPS37D, ESCRT-I subunit; Williams Beuren syndrome chromosome region 24; Williams-Beuren syndrome critical region protein 24; vacuolar protein sorting 37 homolog D; vacuolar protein sorting 37D; vacuolar protein sorting-associated protein 37D; williams-Beuren syndrome chromosomal region 24 protein; williams-Beuren syndrome region protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:155382); (R-HSA-162588); (R-HSA-174490); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710)", "pathway_count": 6, "publication_count": 33, "publication_id_list": "11112487;11237011;11527981;11563910;12663786;14624836;15075231;15218037;15473846;15509564;15613341;16371348;16775314;16973552;18005716;19527882;19640981;21238931;21289126;21757351;2204156;22405001;22762019;23266279;23305486;25961502;2799391;31844290;32157095;33968037;35051231;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, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6P2C3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome;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": 3.4, "record_id": "Q86XT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95935-1", "uniprot_id": [ { "id": "TBX18_HUMAN", "url": "https://www.uniprot.org/uniprot/O95935", "type": "external" } ], "mass": 64753.0, "length": 607, "protein_name": "T-box transcription factor TBX18", "gene_name": "TBX18", "organism": "Human", "refseq_name": "T-box transcription factor TBX18", "refseq_ac": [ { "id": "NP_001073977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073977", "type": "external" } ], "gene_names_uniprotkb": "TBX18", "gene_names_refseq": "CAKUT2; PUJO; TBX18", "protein_names_uniprotkb": "T-box transcription factor TBX18; T-box protein 18", "protein_names_refseq": "T-box 18; T-box protein 18; T-box transcription factor TBX18", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract 2 (Disease Ontology:DOID:0080207)", "pathway": " (hsa:9096)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;17584735;26235987;26992070;30379171;30429286;32157095;32387766;32938616;34185709;34882885;35051231;35580925;36010968;36418409;36543116;37399907;9888994", "class_list": "", "function": "Acts as a transcriptional repressor involved in developmental processes of a variety of tissues and organs, including the heart and coronary vessels, the ureter and the vertebral column. Required for embryonic development of the sino atrial node (SAN) head area., [UniProtKB, UniProtKB, PubMed]; MicroRNA-dependent suppression of biological pacemaker activity induced by TBX18., [RefSeq, PubMed]; TBX18 knockdown sensitizes esophageal squamous cell carcinoma to radiotherapy by blocking the CHN1/RhoA axis., [RefSeq, PubMed]; Tbx18 interacts with Gata4 and Nkx2-5 and competes Tbx5-mediated activation of the cardiac Natriuretic peptide precursor type a-promoter. Tbx18 down-regulates Tbx6-activated Delta-like 1 expression in the somitic mesoderm in vivo, [RefSeq, PubMed]; Tbx18 promoted the conversion of human-induced pluripotent stem cell-derived cardiomyocytes into sinoatrial node-like pacemaker cells., [RefSeq, PubMed]; The role of TBX18 in congenital heart defects in humans not confirmed., [RefSeq, PubMed]; This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [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": 12, "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": "A2RU13;Q7Z6U4;Q9UJI6", "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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0090571 RNA polymerase II transcription repressor complex", "go_biological_process": "GO:0001708 cell fate specification;GO:0060931 sinoatrial node cell development;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "O95935-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EC8-1", "uniprot_id": [ { "id": "YIPF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EC8", "type": "external" } ], "mass": 26256.0, "length": 236, "protein_name": "Protein YIPF6", "gene_name": "YIPF6", "organism": "Human", "refseq_name": "protein YIPF6 isoform B", "refseq_ac": [ { "id": "NP_001182143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182143", "type": "external" } ], "gene_names_uniprotkb": "YIPF6", "gene_names_refseq": "FinGER6; YIPF6; YIPFalpha3; Yip4", "protein_names_uniprotkb": "Protein YIPF6; YIP1 family member 6", "protein_names_refseq": "YIP1 family member 6; protein YIPF6 isoform B; protein YIPF6", "tax_id": 9606, "disease": "", "pathway": " (hsa:286451); (R-HSA-432722)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10394364;11237011;11590181;11604418;11694590;11994746;15102850;16155256;17116749;22223895;25576301;27999994;28144969;28218747;28228285;28286305;28510447;28649982;28904123;29437277;29557506;29769354;30315122;31092671;31289229;31844290;32157095;32161166;32350084;32938616;33592498;33968037;33981976;34087483;34357683;35051231;35318648;35580925;36241641;8374173;8524399;8670264", "class_list": "", "function": "Knockdown of YIPF1 and YIPF2, but not that of YIPF6, also reduced intracellular glycans in HT-29 cells. Thus, we confirmed that YIPF1, YIPF2, and YIPF6 play a significant role in supporting normal glycan synthesis, [RefSeq, PubMed]; Levels of YIPF6 protein in human liver correlate with hepatic steatosis and correlate inversely with levels of FGF21 in serum from patients with nonalcoholic fatty liver disease., [RefSeq, PubMed]; May be required for stable YIPF1 and YIPF2 protein expression., [UniProtKB, PubMed]; YIPF6 overexpression in prostate cancer tumor cell lines resulted in reduced cell proliferation and colony formation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4E1U7;G5E997;Q5JP08", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005797 Golgi medial cisterna;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q96EC8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49767-1", "uniprot_id": [ { "id": "VEGFC_HUMAN", "url": "https://www.uniprot.org/uniprot/P49767", "type": "external" } ], "mass": 46883.0, "length": 419, "protein_name": "Vascular endothelial growth factor C", "gene_name": "VEGFC", "organism": "Human", "refseq_name": "vascular endothelial growth factor C preproprotein", "refseq_ac": [ { "id": "NP_005420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005420", "type": "external" } ], "gene_names_uniprotkb": "VEGFC", "gene_names_refseq": "Flt4-L; LMPH1D; LMPHM4; VEGFC; VRP", "protein_names_uniprotkb": "Vascular endothelial growth factor C; Flt4 ligand; Flt4-L; VEGF-C; VRP; Vascular endothelial growth factor-related protein", "protein_names_refseq": "FLT4 ligand DHM; vascular endothelial growth factor C preproprotein; vascular endothelial growth factor-related protein", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); hereditary lymphedema (Disease Ontology:DOID:0050580); hereditary lymphedema ID (Disease Ontology:DOID:0070209); urinary bladder cancer (Disease Ontology:DOID:11054); nephroblastoma (Disease Ontology:DOID:2154); colon adenocarcinoma (Disease Ontology:DOID:234); ovarian cancer (Disease Ontology:DOID:2394); invasive ductal carcinoma (Disease Ontology:DOID:3008); papillary carcinoma (Disease Ontology:DOID:3113); breast carcinoma (Disease Ontology:DOID:3459); pancreatic adenocarcinoma (Disease Ontology:DOID:4074); renal cell carcinoma (Disease Ontology:DOID:4450); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:7424); (R-HSA-114608); (R-HSA-194313); (R-HSA-195399)", "pathway_count": 4, "publication_count": 46, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11004490;11387210;11532940;12871269;12881528;1417831;1435334;14630798;15297306;15340161;16633338;16835467;18491316;20145116;23090970;23410910;23584533;23640497;23878260;24190977;24744435;2479986;25505266;28179430;31844290;32387766;33592498;33968037;35051231;38372116;38728943;38847478;39141315;6457647;7824266;8467233;8617204;8637916;8700872;9207067;9233800;9247316;9435229;9722576", "class_list": "", "function": "Comparative study on the expression of Pax3, Rad51 and VEGF-C in esophageal gastric junction adenocarcinoma and distal gastric adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Growth factor active in angiogenesis, and endothelial cell growth, stimulating their proliferation and migration and also has effects on the permeability of blood vessels. May function in angiogenesis of the venous and lymphatic vascular systems during embryogenesis, and also in the maintenance of differentiated lymphatic endothelium in adults. Binds and activates KDR/VEGFR2 and FLT4/VEGFR3 receptors., [UniProtKB, PubMed]; High expression of DEC2 distinguishes chondroblastic osteosarcoma and promotes tumour growth by activating the VEGFC/VEGFR2 signalling pathway., [RefSeq, PubMed]; MiR-455-3p regulates lymphangiogenesis in silicosis by regulating VEGF-C/VEGFR3., [RefSeq, PubMed]; The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]., [RefSeq]; ZNF468-mediated epigenetic upregulation of VEGF-C facilitates lymphangiogenesis and lymphatic metastasis in ESCC via PI3K/Akt and ERK1/2 signaling 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": 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 14, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R9Q8", "ec_number_list": [], "go_molecular_function": "GO:0043185 vascular endothelial growth factor receptor 3 binding;GO:0042056 chemoattractant activity;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:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0001666 response to hypoxia;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P49767-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYW7-1", "uniprot_id": [ { "id": "TA2R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYW7", "type": "external" } ], "mass": 34333.0, "length": 299, "protein_name": "Taste receptor type 2 member 1", "gene_name": "TAS2R1", "organism": "Human", "refseq_name": "taste receptor type 2 member 1 isoform 1", "refseq_ac": [ { "id": "NP_062545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062545", "type": "external" } ], "gene_names_uniprotkb": "TAS2R1", "gene_names_refseq": "T2R1; TAS2R1; TRB7", "protein_names_uniprotkb": "Taste receptor type 2 member 1; T2R1; TRB7; Taste receptor family B member 7", "protein_names_refseq": "taste receptor type 2 member 1 isoform 1; taste receptor, family B, member 7; taste receptor, type 2, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:50834); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10761934;10761935;11007482;11208605;11237011;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;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25573083;25853419;26377607;26684251;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;32876108;33392160;35051231;35902880;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Expression and functional activity of the bitter taste receptors TAS2R1 and TAS2R38 in human keratinocytes, [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, UniProtKB, UniProtKB]; TAS2R agonists block signaling downstream of phosphatidylinositol 3-kinase, [RefSeq, PubMed]; TAS2R supports odontoblastic differentiation of human dental pulp stem cells in the inflammatory microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; The influence of bitter-taste receptor (TAS2R) expression in pharmacological response to Chloroquine in obese patients with COVID-19., [RefSeq, PubMed]; This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [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": 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": "Q646G8", "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": 8.2, "record_id": "Q9NYW7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95619-1", "uniprot_id": [ { "id": "YETS4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95619", "type": "external" } ], "mass": 26499.0, "length": 227, "protein_name": "YEATS domain-containing protein 4", "gene_name": "YEATS4", "organism": "Human", "refseq_name": "YEATS domain-containing protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001287879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287879", "type": "external" } ], "gene_names_uniprotkb": "YEATS4; GAS41", "gene_names_refseq": "4930573H17Rik; B230215M10Rik; GAS41; NUBI-1; YAF9; YEATS4", "protein_names_uniprotkb": "YEATS domain-containing protein 4; Gas41; Glioma-amplified sequence 41; NuBI-1; NuBI1; NuMA-binding protein 1", "protein_names_refseq": "NuMA binding protein 1; YEATS domain-containing protein 4 isoform 2; glioma-amplified sequence 41; nuBI1", "tax_id": 9606, "disease": "high grade glioma (Disease Ontology:DOID:3070)", "pathway": " (hsa:8089); (R-HSA-3214847); (R-HSA-8866907)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10786633;10821277;10913114;11237011;11694877;11744733;11756182;11903063;12586840;12620397;12963728;14966270;15196461;15313887;15548692;16387653;16698963;18381289;18445686;18623064;19187765;1998122;20018852;20068231;2010091;23301498;23481700;24714562;25576301;25645385;25892735;26728094;26992070;27600516;27846572;27920218;28063628;28218747;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29437725;29463709;29493099;29508533;29557506;29632046;29632711;29900004;30071723;30315122;30429286;30484775;30524438;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32387766;32502341;32897882;32938616;33592498;33691108;33912179;33936100;33968037;33981976;34171305;34509645;35051231;35503594;35561310;35580925;36010968;36241641;37938771;9302258;9427644;9558366;9880483", "class_list": "", "function": "Cellular and structural studies revealed that GAS41 is a histone lysine succinylation reader owing to a protonated histidine residue located inside the pocket., [RefSeq, PubMed]; Chromatin reader component of the NuA4 histone acetyltransferase (HAT) complex, a complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:12963728, PubMed:14966270). Specifically recognizes and binds acylated histone H3, with a preference for histone H3 diacetylated at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac) or histone H3 diacetylated at 'Lys-14' and 'Lys-27' (H3K14ac and H3K27ac) (PubMed:29437725, PubMed:29900004, PubMed:30071723). Also able to recognize and bind crotonylated histone H3 (PubMed:30071723). May also recognize and bind histone H3 succinylated at 'Lys-122' (H3K122succ); additional evidences are however required to confirm this result in vivo (PubMed:29463709). Plays a key role in histone variant H2AZ1/H2A.Z deposition into specific chromatin regions: recognizes and binds H3K14ac and H3K27ac on the promoters of actively transcribed genes and recruits NuA4-related complex to deposit H2AZ1/H2A.Z (PubMed:29437725). H2AZ1/H2A.Z deposition is required for maintenance of embryonic stem cell (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; GAS41 mediates proliferation and GEM chemoresistance via H2A.Z.2 and Notch1 in pancreatic cancer., [RefSeq, PubMed]; The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]., [RefSeq]; This study determined the crystal structure of the GAS41 YEATS domain with H3K23acK27ac to visualize the molecular basis of diacetylated histone binding. The results suggest a unique binding mode in which full-length GAS41 is a reader of diacetylated histones., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NQD0", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0042393 histone binding;GO:0140044 histone H3K18ac reader activity;GO:0140119 histone H3K27ac reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035267 NuA4 histone acetyltransferase complex;GO:0016363 nuclear matrix", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006338 chromatin remodeling;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": 9.3, "record_id": "O95619-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC57-1", "uniprot_id": [ { "id": "WFDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC57", "type": "external" } ], "mass": 23977.0, "length": 220, "protein_name": "WAP four-disulfide core domain protein 1", "gene_name": "WFDC1", "organism": "Human", "refseq_name": "WAP four-disulfide core domain protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001269395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269395", "type": "external" } ], "gene_names_uniprotkb": "WFDC1; PS20", "gene_names_refseq": "PS20; WFDC1", "protein_names_uniprotkb": "WAP four-disulfide core domain protein 1; Prostate stromal protein ps20; ps20 growth inhibitor", "protein_names_refseq": "WAP four-disulfide core domain 1 homolog; WAP four-disulfide core domain protein 1 isoform 1 precursor; prostate stromal protein ps20; ps20 growth inhibitor", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:58189)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10967136;11237011;12032731;15305342;16959974;17942534;27115470;30423385;33615507", "class_list": "", "function": "Has growth inhibitory activity., [UniProtKB]; Molecular structure, gene expression and functional role of WFDC1 in angiogenesis and cancer. Review article, [RefSeq, PubMed]; Phylogenetic, molecular evolution and structural analyses of the WFDC1/prostate stromal protein 20., [RefSeq, PubMed]; Prostrate stromal 20 overexpression upregulates expression of cyclooxygenase-2 (COX-2) in LNCaP and WPMY-1 cells, and induces expression of a growth-suppressive phenotype, which inhibits proliferation of PCa cells by ps20-expressing WPMY-1 conditioned media., [RefSeq, PubMed]; Ps20 promoted HIV entry via fusion and augmented CD54 integrin expression, [RefSeq, PubMed]; Results suggest a minor role, if any, of WFDC1 in hepatocarcinogenesis, [RefSeq, PubMed]; This gene encodes a member of the WAP-type four disulfide core domain family. The WAP-type four-disulfide core domain contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is mapped to chromosome 16q24, an area of frequent loss of heterozygosity in cancers, including prostate, breast and hepatocellular cancers and Wilms' tumor. This gene is downregulated in many cancer types and may be involved in the inhibition of cell proliferation. The encoded protein may also play a role in the susceptibility of certain CD4 memory T cells to human immunodeficiency virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; WFDC1/ps20 is down regulated but not frequently mutated in prostate cancer. It is expressed predominantly in the normal prostatic stroma. It might play a role in the maintenance of the normal extra cellular matrix milieu in the prostate., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DUL7;Q8NC27;Q9HAU1", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0001558 regulation of cell growth;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9HC57-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVX0-1", "uniprot_id": [ { "id": "LITAD_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVX0", "type": "external" } ], "mass": 8245.0, "length": 72, "protein_name": "LITAF domain-containing protein", "gene_name": "LITAFD", "organism": "Human", "refseq_name": "lITAF domain-containing protein", "refseq_ac": [ { "id": "NP_001382362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382362", "type": "external" } ], "gene_names_uniprotkb": "LITAFD", "gene_names_refseq": "LITAFD", "protein_names_uniprotkb": "LITAF domain-containing protein; LITAF-like protein", "protein_names_refseq": "LITAF-like protein; lITAF domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:101929989)", "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:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0098574 cytoplasmic side of lysosomal membrane;GO:0098560 cytoplasmic side of late endosome membrane", "go_biological_process": "GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GVX0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43895-1", "uniprot_id": [ { "id": "XPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43895", "type": "external" } ], "mass": 75625.0, "length": 674, "protein_name": "Xaa-Pro aminopeptidase 2", "gene_name": "XPNPEP2", "organism": "Human", "refseq_name": "xaa-Pro aminopeptidase 2 precursor", "refseq_ac": [ { "id": "NP_003390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003390", "type": "external" } ], "gene_names_uniprotkb": "XPNPEP2", "gene_names_refseq": "AEACEI; APP2; XPNPEP2", "protein_names_uniprotkb": "Xaa-Pro aminopeptidase 2; 3.4.11.9; Aminoacylproline aminopeptidase; Membrane-bound APP; Membrane-bound AmP; Membrane-bound aminopeptidase P; X-Pro aminopeptidase 2; mAmP", "protein_names_refseq": "X-Pro aminopeptidase 2; X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound; aminoacylproline aminopeptidase; mAmP; membrane-bound APP; membrane-bound AmP; membrane-bound aminopeptidase P; xaa-Pro aminopeptidase 2 precursor; xaa-Pro aminopeptidase 2", "tax_id": 9606, "disease": "acquired angioedema (Disease Ontology:DOID:0080941); susceptibility to angioedema induced by ACE inhibitors (MONDO:MONDO:0100003)", "pathway": " (hsa:7512); (R-HSA-163125)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11072085;15361070;16175507;20166139;20625347;21898657;23276181;2443973;27788882;27862975;28670957;29557506;31217245;31296901;33912179;3422494;35251023;35580925;37074911;9375790", "class_list": "", "function": "A C-2399A SNP assay was applied to patients with acute hypotensive transfusion reactions. In a pilot study, 2 patients (50%) were found to possess C-2399A polymorphisms. One was found to be homozygous, and the other was heterozygous., [RefSeq, PubMed]; Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]., [RefSeq]; Membrane-bound metalloprotease which catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro. May play a role in the metabolism of the vasodilator bradykinin., [UniProtKB, PubMed]; The XPNPEP2 c-2399A and the ACE insertion/deletion polymorphisms analyzed in a population of patients with hereditary angioedema with F12 mutation were not a major determinant of disease expression., [RefSeq, PubMed]; The genetic regulation of the XPNPEP2 gene and identify the genetic factors contributing to variance in plasma aminopeptidase P activity and ACEi-angioedema (XPNPEP2), [RefSeq, PubMed]; We demonstrated that XPNPEP2 had significant effects on the metastasis of xenografted tumors in vivo. Collectively, our findings identify the novel function of XPNPEP2 in the metastasis of cervical cancer and suggest that XPNPEP2 could be a novel potential therapeutic target for the treatment of cervical cancer, [RefSeq, PubMed]; XPNPEP2 is associated with lymph node metastasis in prostate cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 20, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A0AV16;O75994", "ec_number_list": [ { "id": "3.4.11.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.9", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.4.17.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.12", "type": "external" }, { "id": "3.1.4.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.50", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004177 aminopeptidase activity;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0098552 side of membrane", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O43895-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEU8-1", "uniprot_id": [ { "id": "WFKN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEU8", "type": "external" } ], "mass": 63941.0, "length": 576, "protein_name": "WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2", "gene_name": "WFIKKN2", "organism": "Human", "refseq_name": "WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_783165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783165", "type": "external" } ], "gene_names_uniprotkb": "WFIKKN2; GASP1; PRO31996; WFIKKNRP", "gene_names_refseq": "GASP-1; WFDC20B; WFIKKN2; WFIKKNRP; hGASP-1", "protein_names_uniprotkb": "WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2; GASP-1; Growth and differentiation factor-associated serum protein 1; WAP, follistatin, immunoglobulin, Kunitz and NTR domain-containing-related protein; WFIKKN-related protein; hGASP-1", "protein_names_refseq": "WAP four-disulfide core domain 20B; WAP, FS, Ig, two KU and NTR module related protein; WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 isoform 1 precursor; WAP, follistatin, immunoglobulin, kunitz and NTR domain-containing-related protein; WAP, kazal, immunoglobulin, kunitz and NTR domain-containing protein 2; WFIKKN-related protein; growth and differentiation factor-associated serum protein 1; multivalent protease inhibitor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:124857)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;11928817;12595574;12975309;22395277;23829672;27325460;28005267;35051231", "class_list": "", "function": "After eccentric exercise, postmenopausal women not using hormone therapy (HT) expressed higher levels of GASP-1 while postmenopausal women using HT showed a significant increased expression over controls., [RefSeq, PubMed]; Data suggest that myostatin binding to its receptor (activin receptors type II) can be blocked by WFIKKN1 but not WFIKKN2; various forms of myostatin (promyostatin, myostatin pro-domain, and latent/processed myostatin) bind WFIKKN1 but not WFIKKN2., [RefSeq, PubMed]; In this review, we summarize current knowledge about the WFIKKN proteins and propose that they are 'companion' proteins for various growth factors by providing localized and sustained presentation of TGFB proteins to their respective receptors, thus regulating the balance between the activation of Smad and non-Smad pathways by TGFB. Review article, [RefSeq, PubMed]; Newly discovered WFIKKNPR gene structure and tissue distribution of gene expression is commpared with that of the WFIKKN gene in adult and fetal tissues and organs, [RefSeq, PubMed]; Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]., [RefSeq]; WFIKKN2 expression is significantly downregulated in human masticatory mucosa during wound healing, [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": 27, "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": "Q6UXZ9", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0048019 receptor antagonist activity;GO:0050431 transforming growth factor beta binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8TEU8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37288-1", "uniprot_id": [ { "id": "V1AR_HUMAN", "url": "https://www.uniprot.org/uniprot/P37288", "type": "external" } ], "mass": 46800.0, "length": 418, "protein_name": "Vasopressin V1a receptor", "gene_name": "AVPR1A", "organism": "Human", "refseq_name": "vasopressin V1a receptor", "refseq_ac": [ { "id": "NP_000697", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000697", "type": "external" } ], "gene_names_uniprotkb": "AVPR1A; AVPR1", "gene_names_refseq": "AVPR V1a; AVPR1A; AVPR1; V1aR", "protein_names_uniprotkb": "Vasopressin V1a receptor; AVPR V1a; Antidiuretic hormone receptor 1a; V1aR; Vascular/hepatic-type arginine vasopressin receptor", "protein_names_refseq": "SCCL vasopressin subtype 1a receptor; V1-vascular vasopressin receptor AVPR1A; V1a vasopressin receptor; antidiuretic hormone receptor 1A; vascular/hepatic-type arginine vasopressin receptor; vasopressin V1a receptor", "tax_id": 9606, "disease": "portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); renovascular hypertension (Disease Ontology:DOID:1591); acute kidney failure (Disease Ontology:DOID:3021); brain edema (Disease Ontology:DOID:4724); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:552); (R-HSA-388479); (R-HSA-416476); (R-HSA-5619099)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10191087;10369876;10567430;10727532;10861009;11015615;11237011;11415438;11742120;11753430;12082568;12107248;12120503;12436935;12446593;1313946;14673472;15327388;15951850;16182515;16268778;16333859;16339447;16511036;16672911;16754659;16923326;17105757;17322306;17699341;18434541;18508290;18515384;18577758;18936096;1905813;20463780;20973922;2115785;23360744;24766294;2841328;2991279;30303493;3086311;30962532;33362272;33392160;34032285;34161896;35051231;35503085;36215666;37312550;4061066;4065330;6401806;7714110;7802081;7929452;7937899;8074728;8103767;8106369;8514868;8664309;9264324;9305846;9357056;9459574;9467595;9581826;9651149;9770463;9884074", "class_list": "", "function": "Association between arginine vasopressin receptor 1A (AVPR1A) polymorphism and inequity aversion., [RefSeq, PubMed]; Class A G protein-coupled receptors assemble into functional higher-order hetero-oligomers., [RefSeq, PubMed]; Evidence for association of vasopressin receptor 1A promoter region repeat with childhood onset aggression., [RefSeq, PubMed]; Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans., [RefSeq, PubMed]; No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system. Has been involved in social behaviors, including affiliation and attachment., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [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": 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": 2, "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": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0031894 V1A vasopressin receptor binding;GO:0005080 protein kinase C binding;GO:0017046 peptide hormone binding;GO:0005000 vasopressin receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0030139 endocytic vesicle", "go_biological_process": "GO:0051970 negative regulation of transmission of nerve impulse;GO:0002125 maternal aggressive behavior;GO:0007621 negative regulation of female receptivity;GO:0006091 generation of precursor metabolites and energy;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P37288-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43592-1", "uniprot_id": [ { "id": "XPOT_HUMAN", "url": "https://www.uniprot.org/uniprot/O43592", "type": "external" } ], "mass": 109964.0, "length": 962, "protein_name": "Exportin-T", "gene_name": "XPOT", "organism": "Human", "refseq_name": "exportin-T", "refseq_ac": [ { "id": "NP_009166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009166", "type": "external" } ], "gene_names_uniprotkb": "XPOT", "gene_names_refseq": "XPO3; XPOT", "protein_names_uniprotkb": "Exportin-T; Exportin(tRNA); tRNA exportin", "protein_names_refseq": "exportin(tRNA); exportin, tRNA (nuclear export receptor for tRNAs); exportin-T; tRNA exportin", "tax_id": 9606, "disease": "", "pathway": " (hsa:11260); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 114, "publication_id_list": "10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15317868;16361254;16710424;17204286;17224653;18226598;18809514;18984158;19608861;20068231;21311021;21450806;21559454;21593607;22223895;22706990;22944664;23301498;23481700;2470644;24714562;24715725;24870230;25418920;25576301;25640237;25645385;25849199;25892735;26154972;26375851;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;30315122;30410026;30429286;30833945;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33214551;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34469238;34509645;34561969;34725712;34932366;35051231;35318648;35580925;36010968;36284347;37928256;37938771;38665916;6930639;7759547;7828588;9512417;9660920;9857198", "class_list": "", "function": "Exportin-T: A Novel Prognostic Predictor and Potential Therapeutic Target for Neuroblastoma., [RefSeq, PubMed]; Mediates the nuclear export of aminoacylated tRNAs. In the nucleus binds to tRNA and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the tRNA from the export receptor. XPOT then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]., [RefSeq]; XPOT Disruption Suppresses TNBC Growth through Inhibition of Specific tRNA Nuclear Exportation and TTC19 Expression to Induce Cytokinesis Failure. Publication Status: Online-Only, [RefSeq, PubMed]; tRNA nucleus export receptor which facilitates tRNA translocation across the nuclear pore complex., [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": 5, "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": "A6NLH1;O43784;Q8WUG2;Q9BVS7", "ec_number_list": [], "go_molecular_function": "GO:0000049 tRNA binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016363 nuclear matrix", "go_biological_process": "GO:0071528 tRNA re-export from nucleus;GO:0006409 tRNA export from nucleus;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O43592-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8Y1-1", "uniprot_id": [ { "id": "VRTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8Y1", "type": "external" } ], "mass": 78260.0, "length": 702, "protein_name": "Vertnin", "gene_name": "VRTN", "organism": "Human", "refseq_name": "vertnin", "refseq_ac": [ { "id": "NP_060698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060698", "type": "external" } ], "gene_names_uniprotkb": "VRTN; C14orf115", "gene_names_refseq": "C14orf115; VRTN; vertnin", "protein_names_uniprotkb": "Vertnin", "protein_names_refseq": "vertebrae development homolog (pig); vertnin", "tax_id": 9606, "disease": "", "pathway": " (hsa:55237)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;16959974;19664995;25576301;32387766;33392160;33968037;33981976;35051231;36215666;36241641;37217939", "class_list": "", "function": "Acts as a transcription factor that regulates development of thoracic vertebrae., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q9NVC7", "ec_number_list": [], "go_molecular_function": "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", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H8Y1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H9J9-1", "uniprot_id": [ { "id": "T11X2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H9J9", "type": "external" } ], "mass": 56852.0, "length": 502, "protein_name": "T-complex protein 11-like X-linked protein 2", "gene_name": "TCP11X2", "organism": "Human", "refseq_name": "T-complex protein 11-like X-linked protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001264352", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264352", "type": "external" } ], "gene_names_uniprotkb": "TCP11X2", "gene_names_refseq": "TCP11X2", "protein_names_uniprotkb": "T-complex protein 11-like X-linked protein 2", "protein_names_refseq": "T-complex protein 11 X-linked protein 2; T-complex protein 11 homolog; T-complex protein 11-like X-linked protein 2 isoform 1; T-complex protein 11-like X-linked protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100996648)", "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": 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": "A0A2R8YGI6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum", "go_biological_process": "GO:1902490 regulation of sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5H9J9-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0N4X5-1", "uniprot_id": [ { "id": "A0N4X5_HUMAN", "url": "https://www.uniprot.org/uniprot/A0N4X5", "type": "external" } ], "mass": 2157.0, "length": 19, "protein_name": "T cell receptor alpha joining 34", "gene_name": "TRAJ34", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ34", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 34", "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": "A0N4X5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0K0K1C4-1", "uniprot_id": [ { "id": "TVB27_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0K0K1C4", "type": "external" } ], "mass": 12838.0, "length": 114, "protein_name": "T cell receptor beta variable 27", "gene_name": "TRBV27", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV27", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 27", "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": 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": "A0A075B6N5;A0A0A6YYR2;A0A5B5", "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": "A0A0K0K1C4-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0K0K1G8-1", "uniprot_id": [ { "id": "TVBJ2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0K0K1G8", "type": "external" } ], "mass": 13045.0, "length": 114, "protein_name": "T cell receptor beta variable 10-2", "gene_name": "TRBV10-2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV10-2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 10-2", "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": "A0A075B6Q8;A0A0A6YYR8;A0A583", "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": "A0A0K0K1G8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WZ39-1", "uniprot_id": [ { "id": "A0A087WZ39_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WZ39", "type": "external" } ], "mass": 12941.0, "length": 114, "protein_name": "T cell receptor beta variable 15", "gene_name": "TRBV15", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV15", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 15", "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:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A087WZ39-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTJ6-1", "uniprot_id": [ { "id": "SAXO3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTJ6", "type": "external" } ], "mass": 37135.0, "length": 334, "protein_name": "Stabilizer of axonemal microtubules 3", "gene_name": "SAXO3", "organism": "Human", "refseq_name": "stabilizer of axonemal microtubules 3", "refseq_ac": [ { "id": "NP_001382940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382940", "type": "external" } ], "gene_names_uniprotkb": "SAXO3", "gene_names_refseq": "SAXO3", "protein_names_uniprotkb": "Stabilizer of axonemal microtubules 3", "protein_names_refseq": "CTB-60B18.10; stabilizer of axonemal microtubules 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:101059948)", "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": "A0A1B0GTJ6-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1Y8EKQ5-1", "uniprot_id": [ { "id": "A0A1Y8EKQ5_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1Y8EKQ5", "type": "external" } ], "mass": 819.0, "length": 7, "protein_name": "Immunoglobulin heavy diversity 6-19", "gene_name": "IGHD6-19", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHD6-19", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy diversity 6-19", "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": "A0A1Y8EKQ5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A576-1", "uniprot_id": [ { "id": "TVB31_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A576", "type": "external" } ], "mass": 12928.0, "length": 114, "protein_name": "T cell receptor beta variable 3-1", "gene_name": "TRBV3-1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV3-1; TCRBV9S1A1T", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 3-1", "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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A576-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WV62-1", "uniprot_id": [ { "id": "TVB16_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WV62", "type": "external" } ], "mass": 12845.0, "length": 115, "protein_name": "T cell receptor beta variable 16", "gene_name": "TRBV16", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV16", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 16", "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": "A0A087WV62-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A597-1", "uniprot_id": [ { "id": "TVB55_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A597", "type": "external" } ], "mass": 12550.0, "length": 114, "protein_name": "T cell receptor beta variable 5-5", "gene_name": "TRBV5-5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV5-5; TCRBV5S3A2T", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 5-5", "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": 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": "A0A075B6M3", "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": 0.7, "record_id": "A0A597-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A286YEV6-1", "uniprot_id": [ { "id": "SCGR4_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A286YEV6", "type": "external" } ], "mass": 9792.0, "length": 105, "protein_name": "Small cysteine and glycine repeat-containing protein 4", "gene_name": "SCYGR4", "organism": "Human", "refseq_name": "small cysteine and glycine repeat-containing protein 4", "refseq_ac": [ { "id": "NP_001382334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382334", "type": "external" } ], "gene_names_uniprotkb": "SCYGR4; KRTAP28-4", "gene_names_refseq": "KRTAP28-4; SCYGR4", "protein_names_uniprotkb": "Small cysteine and glycine repeat-containing protein 4; Keratin-associated protein 28-4", "protein_names_refseq": "keratin associated protein 28-4; small cysteine and glycine repeat-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:112441430)", "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": "A0A286YEV6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YWU9-1", "uniprot_id": [ { "id": "A0A0J9YWU9_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YWU9", "type": "external" } ], "mass": 12943.0, "length": 116, "protein_name": "Ig-like domain-containing protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Ig-like domain-containing protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "32265295", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0J9YWU9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07889-1", "uniprot_id": [ { "id": "SOS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07889", "type": "external" } ], "mass": 152464.0, "length": 1333, "protein_name": "Son of sevenless homolog 1", "gene_name": "SOS1", "organism": "Human", "refseq_name": "son of sevenless homolog 1 isoform 1", "refseq_ac": [ { "id": "NP_005624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005624", "type": "external" } ], "gene_names_uniprotkb": "SOS1", "gene_names_refseq": "GF1; GGF1; GINGF; HGF; NS4; SOS-1; SOS1", "protein_names_uniprotkb": "Son of sevenless homolog 1; SOS-1", "protein_names_refseq": "gingival fibromatosis, hereditary, 1; guanine nucleotide exchange factor; son of sevenless homolog 1 isoform 1; son of sevenless homolog 1", "tax_id": 9606, "disease": "gingival fibromatosis (Disease Ontology:DOID:0060466); Noonan syndrome 4 (Disease Ontology:DOID:0060582); prostate cancer (Disease Ontology:DOID:10283); atrial heart septal defect (Disease Ontology:DOID:1882); brain ischemia (Disease Ontology:DOID:2316); Noonan syndrome (Disease Ontology:DOID:3490); cerebral infarction (Disease Ontology:DOID:3526); cervical cancer (Disease Ontology:DOID:4362); pulmonary valve stenosis (Disease Ontology:DOID:6420)", "pathway": " (hsa:6654); (R-HSA-112412); (R-HSA-1236382); (R-HSA-1250196); (R-HSA-1250347); (R-HSA-1433557); (R-HSA-1433559); (R-HSA-167044); (R-HSA-179812); (R-HSA-180336); (R-HSA-186763); (R-HSA-193648); (R-HSA-1963640); (R-HSA-210993); (R-HSA-2179392); (R-HSA-2424491); (R-HSA-2428933); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-354194); (R-HSA-375165); (R-HSA-416482); (R-HSA-428540); (R-HSA-5637810); (R-HSA-5654688); (R-HSA-5654693); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5655253); (R-HSA-5655291); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5673001); (R-HSA-74749); (R-HSA-74751); (R-HSA-8851805); (R-HSA-8853659); (R-HSA-8983432); (R-HSA-9013149); (R-HSA-9026519); (R-HSA-9027284); (R-HSA-9028731); (R-HSA-9034864); (R-HSA-912526); (R-HSA-9607240); (R-HSA-9634285); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9670439); (R-HSA-9673767); (R-HSA-9673770); (R-HSA-9679191); (R-HSA-9680350); (R-HSA-9703465); (R-HSA-9703648); (R-HSA-983695); (R-HSA-9842663)", "pathway_count": 63, "publication_count": 1042, "publication_id_list": "10021361;10026169;10026222;10051567;10051622;10068651;10072481;10080542;10087012;10102273;10196222;10207047;10218944;10224278;10232922;10323868;10358045;10358752;10374881;10377264;10395673;10397721;10427092;10432293;10445845;10448070;10455108;10464238;10469654;10482988;10490598;10498607;10508167;10508235;10508610;10521483;10523665;10523675;10523831;10523834;10526156;10556826;10559246;10570274;10579713;10579907;10587647;10629055;10648173;10648629;10652257;10679268;10698507;10699171;10699464;10706702;10722704;10744696;10770799;10783894;10805734;1081164;10811803;10860980;10869344;10873802;10880360;10884405;10918587;10958683;10982827;10983984;10995764;11000521;11002419;11007481;11015619;11027663;11030334;11042164;11048639;11058585;11071869;11075717;11085924;11087732;11090077;11094066;11094073;11124936;11136978;11149925;11157491;11191051;11226282;11237011;11237712;11278435;11278486;11283606;11290608;11294240;11306453;11313914;11313946;11340169;11340297;11353842;11360177;11368773;11369651;11373293;11390647;11390650;11395409;11395417;11396949;11429702;11431473;11432776;11432829;11443118;11447223;11447289;11449366;11470823;11491658;11494148;11520784;11546808;11566266;11584276;11588141;11606584;11607834;11672528;11689432;11689702;11702783;11704860;11707405;11707441;11739186;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11809791;11836255;11868160;11884391;11886862;11901194;11907067;11909947;11912491;11961559;11969368;11994499;11997388;12005431;12032311;12052829;12062105;12071859;12093360;12094235;12096337;12097334;12101119;12121613;12123608;12147692;12181444;12192036;12195014;12214266;12221096;12242309;12351724;12419216;12432077;12433361;12433842;12444928;12453414;12456653;12468433;12471035;12471105;12475982;12481435;12486104;12493740;12511554;12515866;12522257;12531887;12546821;12547822;12569364;12573241;12623850;12650940;12660731;12665586;12670394;12700044;12771945;12824176;12857875;12877655;12878163;12882960;12911816;12923183;12944901;12949711;12969963;12975316;1314164;1334462;1350088;1371879;1372019;1374290;1374684;1375232;1375264;1375321;1376928;1377053;1381360;1396585;14506247;14512443;14514689;14534538;14615605;1464587;1465135;14665640;14673001;14675773;14684163;14695343;14695357;14707138;14715624;14718169;14718541;14749497;14766744;14871245;14981546;14984498;15003515;15007386;15010370;15023524;15029211;15033976;15039213;15044950;15050920;15064355;15077177;15094036;15107133;15118073;15118125;15133129;15143187;15147912;15161916;15173008;15178581;15184383;15187135;15221957;15256420;15256466;15284455;15286081;15302923;15302935;15308621;15314156;15329413;15339924;15342493;15356145;15365099;15374980;15448205;1545823;15470142;15485661;15498859;1550550;15507211;15509800;15526160;15536084;15546878;15548136;15569713;15579468;15598814;15601624;15611138;1569084;15699075;15728722;15749160;15790786;15850391;15858067;15893672;15897194;15928335;15951850;1599430;16002401;16024644;16091734;16112081;16115318;16116428;16129412;16184169;16187797;16188233;16212495;16212621;16243036;16266983;16397263;16410449;16456001;16467200;16473593;16483568;16492808;16507994;16519628;16522641;16627759;16636067;16684964;16702231;16707477;16737840;16761019;16762923;16777452;16777603;16777849;16780420;16843263;16844695;16849466;16849543;16862148;16873377;1689311;16895971;16896804;16906149;16908864;16914516;16923326;16938345;16953218;16968698;16969069;16990784;1702903;17038317;1705565;1706616;17077126;17143282;17143285;17145773;1716764;17177598;17196961;17214551;1721591;17224452;17227708;17244649;17254966;17255936;17268528;17311002;17339331;17344430;17349580;17372273;17452328;17452978;17486119;17502104;17505008;17540168;17546049;17575237;17583407;17599059;17646646;17662946;17662961;17698633;17699773;17702745;17712310;17764812;17765681;17804252;17904548;17942920;17976533;17993265;17998941;18006505;18006696;18025150;18039657;18045877;18052078;18068628;18187424;18192505;18218625;18249095;18296442;18326500;18337450;18347018;18373495;18374420;18381441;18391968;18396277;1840698;18408761;18412956;18413839;18420269;18426980;18452557;18467591;18483393;18552176;18577758;18588518;18596693;18653540;18669648;18691974;18697750;18721752;18757403;18757432;18767875;18775330;18787071;18818202;18838382;18840094;18843204;18849880;18978815;1898771;18995841;19020799;19064725;19103595;19124833;19147536;19187780;19206206;19212140;19249086;19265199;19269969;19279408;19345670;19372136;19381019;19413330;19438505;19438935;19477218;19494238;19560417;19574218;19592646;19605563;19651622;19673492;19713215;19749790;19802003;19805105;19809159;19815557;19909365;19920141;19934221;19946327;19953625;20033049;20068231;20094046;2011584;20145185;20179196;20192804;20223979;20304997;20400958;20460433;20478380;20484116;20489731;20548102;20673819;20679435;20683980;20709759;20810653;20889717;20927104;20966921;21049007;21072051;21102635;21148482;21160078;21262971;21372320;21376233;21387466;21389326;21406692;21408196;21469132;21542010;21565175;21613211;21653832;21659545;21666749;21705501;21711248;21730051;21779497;21779505;21822214;21827948;21865595;21884975;2196173;21989057;21993244;22004470;22046346;22089421;22096251;22153499;22180443;22210847;22298643;22347506;22401777;22407364;22438257;22475431;22483114;22552008;22569528;22589270;22608513;22661716;22734669;22750304;22814904;22827337;22837387;22908275;22970203;2303036;2304550;23073628;23103841;23168613;23175443;23186163;23209303;23220880;23246379;23255595;23288169;23298836;23303910;23434736;23443682;23558953;23572525;23575685;23641311;23707487;23718289;2374928;23752188;23843458;23846654;23940355;23948973;23970477;24086303;24259668;24272870;24275569;24335996;24352656;24397554;24470253;24584101;24588013;2466336;24687822;2472219;24737791;24854988;24859002;24890514;24897931;24933155;24937142;24960694;24971884;25024229;25092874;25211221;25219551;25239608;25331893;25414122;25428919;25467007;25572173;25576301;25645385;2566907;25704760;25721503;25781681;25795300;25801024;25853726;25862245;25880691;25994018;26002965;26029847;26085527;26129894;26154972;26235028;26308771;26375550;26418745;26529257;26545934;26630010;26716518;26887924;26891877;26895103;26992070;27072905;27117132;27145964;27170215;27216196;27256702;27481945;27536065;27555588;27566826;27600516;27666490;27713499;27795560;27806292;27862975;28028030;2809592;28114311;28192400;28196833;28218747;28228285;28271164;28274957;2833705;28351781;28403213;28425720;28514659;28522571;28576946;28649982;28751768;28778966;28832583;28834231;28851395;28855257;28923937;29025582;29089502;29242379;29309929;29358323;29382922;29393594;29408302;29437277;29440291;29490608;29493099;29507660;29508533;29557506;29632711;29704617;29786170;29880609;29945920;29964125;29967253;30007591;30061385;30201761;30301790;30314968;30315122;30332834;30370255;30389923;30410026;30429286;30449325;30524438;30559310;30651634;30792533;30833945;30853411;30854046;31048504;31066629;31085175;31135801;31154438;31217245;31359998;31373491;31530632;31844290;31848261;31871319;31998317;32157095;32203420;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34646012;34819673;3500860;35051231;35580925;36010968;36284347;37042566;37938771;37972068;38622665;4589993;6148751;6335036;7478529;7478576;7479768;7493944;7506952;7509796;7512369;7513258;7518558;7518560;7520444;7523381;7524079;7526158;7527043;7528218;7535773;7536744;7538118;7539782;7539802;7541030;7542744;7559490;7559507;7559638;7568001;7592958;7597091;7641685;7664271;7665556;7673236;7680037;7681396;7684496;7685273;7687428;7687539;7688784;7691807;7691811;7692233;7708691;7721814;7731718;7737969;7739560;7753201;7809086;7835339;7855889;7927516;7929214;7935391;7935463;7937899;7970720;7972015;7997267;7997270;8021274;8033892;803528;8036006;8052307;8084588;8101647;8107774;8145851;8163536;8264585;8294403;8306975;8316835;8355686;8388543;8394845;8400282;8443409;8479541;8493579;8530377;8530383;8530489;8530511;8537347;8543060;8611693;8617235;8617750;8621421;8622888;8628282;8629002;8630736;8631863;8631904;8636116;8637703;8643598;8645157;8647802;8647855;8657151;8662891;8662982;8663278;8663426;8665852;8665853;8673706;8674117;8677749;8695790;8702662;8702728;8703035;8710374;8756646;8769096;8774734;8780727;8798539;8799126;8805223;8810315;8810325;8816443;8816480;8939933;8939998;8940081;8943348;8947047;8950973;8980223;8981370;8986718;8990121;8994827;8995445;9003010;9013646;9038210;9038378;9045650;9045692;9047384;9070211;9099679;9099726;9108392;9108479;9111318;9113980;9126349;9135143;9162069;9182757;9192684;9199344;9209406;9223670;9225065;9232641;9235916;9256427;9299438;9299490;9305890;9308960;9326643;9341187;9355737;9374522;9382888;9395517;9396765;9407096;9438849;9438854;9446650;9480847;9484840;9488729;9490415;9490638;9491986;9497316;9520479;9528781;9544989;9546424;9566877;9582072;9604935;9632781;9632797;9639556;9659915;9660748;9670022;9687510;9690470;9697839;9705962;9737679;9739761;9764818;9764820;9788619;9790532;9792683;9796816;9799234;9822598;9830044;9832424;9843499;9852124;9857065;9872323;9883723;9885561;9918857;9927426;9988689;9989831", "class_list": "", "function": "DNMT1/miR-152-3p/SOS1 signaling axis promotes self-renewal and tumor growth of cancer stem-like cells derived from non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes the exchange of Ras-bound GDP by GTP (PubMed:8493579). Probably by promoting Ras activation, regulates phosphorylation of MAP kinase MAPK3/ERK1 in response to EGF (PubMed:17339331). Catalytic component of a trimeric complex that participates in transduction of signals from Ras to Rac by promoting the Rac-specific guanine nucleotide exchange factor (GEF) activity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; SOS1 and KSR1 modulate MEK inhibitor responsiveness to target resistant cell populations based on PI3K and KRAS mutation status., [RefSeq, PubMed]; This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]., [RefSeq]; Translational relevance of SOS1 targeting for KRAS-mutant colorectal cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 22, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2G3;B4DXG2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0046982 protein heterodimerization activity;GO:0005085 guanyl-nucleotide exchange factor activity", "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:0002931 response to ischemia;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0042127 regulation of cell population proliferation;GO:0042110 T cell activation", "synthesized_glycan_count": 0, "hit_score": 104.6, "record_id": "Q07889-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VZL5-1", "uniprot_id": [ { "id": "ZMYM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VZL5", "type": "external" } ], "mass": 172788.0, "length": 1548, "protein_name": "Zinc finger MYM-type protein 4", "gene_name": "ZMYM4", "organism": "Human", "refseq_name": "zinc finger MYM-type protein 4 isoform 1", "refseq_ac": [ { "id": "NP_005086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005086", "type": "external" } ], "gene_names_uniprotkb": "ZMYM4; KIAA0425; ZNF262", "gene_names_refseq": "CDIR; MYM; ZMYM4; ZNF198L3; ZNF262", "protein_names_uniprotkb": "Zinc finger MYM-type protein 4; Zinc finger protein 262", "protein_names_refseq": "cell death inhibiting RNA; zinc finger MYM-type protein 4 isoform 1; zinc finger MYM-type protein 4; zinc finger protein 262; zinc finger, MYM-type 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9202)", "pathway_count": 1, "publication_count": 108, "publication_id_list": "10449923;10486218;11237011;12356764;15302935;15611657;16959974;16964243;17081983;17525332;18077418;18212344;18452278;18669648;18767875;19007248;19651622;19664995;19691289;20068231;21406692;21834987;22869377;23186163;23301498;23481700;25114211;25218447;25418920;25505266;25576301;25645385;25755297;25772364;25880248;25892735;26154972;26811146;26992070;27600516;27846572;28218747;28228285;28411811;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31844290;31848261;32119511;32157095;32161166;32265295;32357974;32387766;32439918;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33392160;33537174;33592498;33717175;33912179;33938481;33968037;33981976;34019948;34087483;34171305;34185709;34725712;35051231;35254053;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38665916;39531497;39534244;40307207", "class_list": "", "function": "Characterization of the zinc finger proteins ZMYM2 and ZMYM4 as novel B-MYB binding proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Expression and Mutation Alterations of ZMYM4 Gene in Gastric and Colonic Cancers., [RefSeq, PubMed]; Regulates apoptosis by altering mRNA turnover and CDIR inhibits apoptosis by acting as a competitive inhibitor of AUF1, preventing AUF1 from binding to its targets, [RefSeq, PubMed]; Required for regulation of cell morphology and cytoskeletal organization., [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": 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": 26, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0JP19;A0JP20;O43308;Q5T5E1;Q5T5E2;Q7L3Q4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q5VZL5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01453-1", "uniprot_id": [ { "id": "PMP22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01453", "type": "external" } ], "mass": 17891.0, "length": 160, "protein_name": "Peripheral myelin protein 22", "gene_name": "PMP22", "organism": "Human", "refseq_name": "peripheral myelin protein 22 isoform 1", "refseq_ac": [ { "id": "NP_000295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000295", "type": "external" } ], "gene_names_uniprotkb": "PMP22; GAS3", "gene_names_refseq": "CIDP; CMT1A; CMT1E; DSS; GAS-3; GAS3; HMSNIA; HNPP; PMP22; Sp110", "protein_names_uniprotkb": "Peripheral myelin protein 22; GAS-3; Growth arrest-specific protein 3; PMP-22", "protein_names_refseq": "Charcot-Marie-Tooth neuropathy 1A (greatly reduced nerve conduction velocity, hereditary motor sensory neuropathy Ia); growth arrest-specific protein 3; peripheral myelin protein 22 isoform 1; peripheral myelin protein 22 kDa", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 3 (Disease Ontology:DOID:0050540); small intestine carcinoid neuroendocrine tumor (Disease Ontology:DOID:0050925); hereditary neuropathy with liability to pressure palsies (Disease Ontology:DOID:0060843); Charcot-Marie-Tooth disease type 1A (Disease Ontology:DOID:0110148); Charcot-Marie-Tooth disease type 1E (Disease Ontology:DOID:0110153); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); sciatic neuropathy (Disease Ontology:DOID:11446); Guillain-Barre syndrome (Disease Ontology:DOID:12842)", "pathway": " (hsa:5376); (R-HSA-9619665)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "10203854;10211478;10220111;10330345;10400691;10489052;10632107;10663978;10727776;10737979;10757804;10856243;11115854;11133365;11140841;11157804;11237011;11356866;11394999;11430795;11430802;11438991;11734543;11782409;11835375;12056842;12090401;12145339;12198163;12402337;12439896;12497641;12578939;12782656;12796555;12799134;1303210;1303228;1303281;14512514;14522948;14664827;1497668;15099592;15150276;15189448;15205993;15356632;15610069;15695336;15836632;15907797;16136673;16311519;16319321;16373334;16437560;16923174;1704008;17325040;17699610;17959798;18634568;18803322;19143832;19156870;19321787;19745155;1975954;19922439;20149798;20213556;20625412;20832498;21044070;21326363;21411665;21423190;21423191;21613327;21653862;21827951;22053691;22180461;22333914;22492709;22764250;22814607;23695165;23747866;23874858;24191038;24227709;24646194;24675079;25974668;26423937;26441514;27220739;27288457;27859941;28852375;29748249;31848261;32157095;32983136;38565510;38743588;7518101;7675244;7728152;7762451;7925941;7935840;8138712;8252046;8275092;8349731;8482547;8510709;8615087;8619637;8627307;8647822;8655153;8662541;8777804;8842374;8988161;8995589;9004143;9040744;9055797;9187667;9418958;9452053;9452099;9482253;9544841;9585367;9633821;9705348;9748013;9748295;9858769;9888385", "class_list": "", "function": "Might be involved in growth regulation, and in myelinization in the peripheral nervous system., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells., [RefSeq, PubMed]; This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; [Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8WV01", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0045202 synapse;GO:0043218 compact myelin;GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0006915 apoptotic process;GO:0007268 chemical synaptic transmission;GO:0010977 negative regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q01453-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78352-1", "uniprot_id": [ { "id": "DLG4_HUMAN", "url": "https://www.uniprot.org/uniprot/P78352", "type": "external" } ], "mass": 80495.0, "length": 724, "protein_name": "Disks large homolog 4", "gene_name": "DLG4", "organism": "Human", "refseq_name": "disks large homolog 4 isoform 2", "refseq_ac": [ { "id": "NP_001122299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122299", "type": "external" } ], "gene_names_uniprotkb": "DLG4; PSD95", "gene_names_refseq": "DLG4; MRD62; PSD95; SAP-90; SAP90", "protein_names_uniprotkb": "Disks large homolog 4; PSD-95; Postsynaptic density protein 95; SAP-90; SAP90; Synapse-associated protein 90", "protein_names_refseq": "Tax interaction protein 15; discs large homolog 4; disks large homolog 4 isoform 2; disks large homolog 4; post-synaptic density protein 95; synapse-associated protein 90", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); autism spectrum disorder (Disease Ontology:DOID:0060041); benign neoplasm (Disease Ontology:DOID:0060072); chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); autosomal dominant intellectual developmental disorder 62 (Disease Ontology:DOID:0061035); immunodeficiency 94 (Disease Ontology:DOID:0061064); hyper IgE recurrent infection syndrome 4 (Disease Ontology:DOID:0080596); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hyperandrogenism (Disease Ontology:DOID:11613); Parkinson's disease (Disease Ontology:DOID:14330); cancer (Disease Ontology:DOID:162); status epilepticus (Disease Ontology:DOID:1824); Williams-Beuren syndrome (Disease Ontology:DOID:1928); brain ischemia (Disease Ontology:DOID:2316); arteriosclerosis (Disease Ontology:DOID:2349); carcinoma (Disease Ontology:DOID:305); temporal lobe epilepsy (Disease Ontology:DOID:3328); kidney disease (Disease Ontology:DOID:557); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:1742); (R-HSA-1236394); (R-HSA-399719); (R-HSA-438066); (R-HSA-442982); (R-HSA-447038); (R-HSA-451308); (R-HSA-5625900); (R-HSA-5673001); (R-HSA-5682910); (R-HSA-6794361); (R-HSA-8849932); (R-HSA-9609736); (R-HSA-9617324); (R-HSA-9620244)", "pathway_count": 15, "publication_count": 167, "publication_id_list": "10373510;10508167;10582582;10725395;10859302;10867024;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11604393;11702783;11744724;12032311;12094235;12121613;12151521;12802051;12807427;12815021;14506247;14622581;14707138;14741046;15356145;1545823;15540461;15546878;16202622;16242404;16431929;16495444;16624946;16627759;16630835;16684964;16846852;16990550;17156196;1716764;17387609;17545517;17855605;17897391;17988632;17997397;17998941;18227064;18311135;18628660;18721130;18721752;18775330;18812509;18829961;18974846;1898771;19081375;19118189;19279408;19342380;19681166;19920141;20064387;20064388;20162351;20220021;20461023;20478380;20519524;20600927;20962234;21102635;21119615;21282647;21372320;21779497;21779505;21829378;21965656;21993244;22293177;22569528;22589270;22709448;22750304;22807451;23103841;23303910;23443682;23444367;23575685;23716662;23782696;24897931;24937142;24981431;25219551;25378172;25780553;25781681;26085527;26321637;26334723;26701913;27066583;27479843;27846572;27920218;28449373;28778966;28790172;28832583;28904123;29242379;29460436;30379171;30590034;31135801;31844290;32357974;32897882;33912179;36010968;36732356;37891164;38427737;6148751;7477295;7565730;7569905;7695896;7736595;7809086;7929212;7935463;7972015;8052307;8394845;8493579;8543060;8576240;8601796;8617750;8665852;8710374;8782898;8939933;9069287;9135143;9168115;9275162;9278515;9286702;9556621;9604935;9625352;9648857;9792683;9808458;9870942;9870943;9927426;9927700", "class_list": "", "function": "FMRP, FXR1 protein and Dlg4 mRNA, which are associated with fragile X syndrome, are involved in the ubiquitin-proteasome system. Publication Status: Online-Only, [RefSeq, PubMed]; Multivalent Tau/PSD-95 interactions arrest in vitro condensates and clusters mimicking the postsynaptic density. Publication Status: Online-Only, [RefSeq, PubMed]; Postsynaptic scaffolding protein that plays a critical role in synaptogenesis and synaptic plasticity by providing a platform for the postsynaptic clustering of crucial synaptic proteins. Interacts with the cytoplasmic tail of NMDA receptor subunits and shaker-type potassium channels. Required for synaptic plasticity associated with NMDA receptor signaling. Overexpression or depletion of DLG4 changes the ratio of excitatory to inhibitory synapses in hippocampal neurons. May reduce the amplitude of ASIC3 acid-evoked currents by retaining the channel intracellularly. May regulate the intracellular trafficking of ADR1B. Also regulates AMPA-type glutamate receptor (AMPAR) immobilization at postsynaptic density keeping the channels in an activated state in the presence of glutamate and preventing synaptic depression (By similarity). Under basal conditions, cooperates with FYN to stabilize palmitoyltransferase ZDHHC5 at the synaptic membrane through FYN-mediated phosphorylation of ZDHHC5 and its subsequent inhibition of association with endocytic proteins (PubMed:26334723)., [UniProtKB, UniProtKB, PubMed]; Targeting postsynaptic glutamate receptor scaffolding proteins PSD-95 and PICK1 for obesity treatment., [RefSeq, PubMed]; This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. 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": 28, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1S1;G5E939;Q92941;Q9UKK8", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0033130 acetylcholine receptor binding;GO:0019900 kinase binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0098989 NMDA selective glutamate receptor signaling pathway;GO:0007165 signal transduction;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007399 nervous system development;GO:0007612 learning", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "P78352-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49023-1", "uniprot_id": [ { "id": "PAXI_HUMAN", "url": "https://www.uniprot.org/uniprot/P49023", "type": "external" } ], "mass": 64505.0, "length": 591, "protein_name": "Paxillin", "gene_name": "PXN", "organism": "Human", "refseq_name": "paxillin isoform 2", "refseq_ac": [ { "id": "NP_001074324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074324", "type": "external" } ], "gene_names_uniprotkb": "PXN", "gene_names_refseq": "PXN", "protein_names_uniprotkb": "Paxillin", "protein_names_refseq": "paxillin isoform 2; testicular tissue protein Li 134", "tax_id": 9606, "disease": "", "pathway": " (hsa:5829); (R-HSA-180292); (R-HSA-4420097); (R-HSA-445355); (R-HSA-446343); (R-HSA-446388); (R-HSA-8849471); (R-HSA-9926550)", "pathway_count": 8, "publication_count": 279, "publication_id_list": "10037737;10075701;10207622;10395673;10604475;10648629;10677529;10692392;10734310;10744763;10749680;10749932;10913131;10938112;10991994;11007481;11035932;11237011;11242081;11278486;11323411;11331308;11457814;11518510;11532985;11606067;11695992;11696015;11774284;11889009;12048254;12134158;12214271;12215529;12391143;12464388;12499396;12660731;12766170;12787671;12810700;12820653;12837288;12853963;12861019;14506282;14527389;14560030;14627618;14665621;14701753;14703945;14724572;14967142;14970194;15001579;15005707;15026417;15159419;15231819;15247219;15308668;15377279;15572663;15574420;15592455;156362;15688067;15695828;15817463;15962004;16212439;16308318;16336962;16408927;16537926;16717130;16760434;16964243;16966330;17030947;17055381;17199126;17237347;17293873;17297458;17462669;17686471;18042622;18220336;18436335;18451535;18508764;18669648;18691976;18713649;18829532;18940607;18974361;19138410;19230644;19267251;1930128;19304789;19358827;19380584;19590037;19690332;19840224;19940119;20037584;20068231;20132547;20308429;20406887;20418909;20419088;20489202;20658524;20829364;21406692;21445309;21779367;22043013;22084245;22327215;22421042;22689825;22750292;22778174;22869380;22946047;23128389;23186163;23209645;23216836;23443682;23481700;23834404;23890137;24096476;24193434;24275569;24694988;24714562;24795566;24872348;24885567;24935154;25015296;2526655;25576301;25620625;25645385;25826088;25938342;26154972;26362469;26447611;26598620;26697169;26768311;26992070;27068537;27402964;27447856;27600516;2764880;27679490;27726376;27846572;27862975;27913654;28218747;28415719;28741090;28832583;28834231;28904123;29046398;29088796;29242379;29393594;29493099;29557506;29632711;29786170;30059200;30315122;30353164;30587575;30716301;30745530;30755102;30779550;30833945;31154438;31217245;31222486;31373491;31426542;31492838;31516757;31831667;31831830;31844290;31848261;32079527;32139877;32157095;32161166;32387766;32488085;32502341;32543734;32733919;32820145;32938616;32983136;33051544;33214551;33243234;33413438;33592498;33717175;33968037;33981976;34019948;34087483;34171305;34217213;34725712;35051231;35297710;35318648;35513511;35580925;36010968;36284347;36581221;37316325;3780718;37938771;37986328;38254202;38307570;38326036;38466167;38665916;38718206;39302247;39534244;39894887;40259376;7493940;7509446;7534286;7537852;7615549;8538749;8617235;8858389;8986718;9054445;9099726;9168821;9182576;9219684;9302992;9356464;9393975;9398617;9407060;9472046;9481611;9598563;9600334;9855623;9890893", "class_list": "", "function": "Cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Recruits other proteins such as TRIM15 to focal adhesion., [UniProtKB, PubMed]; Effect of Paxillin Expression and Phosphorylation on Colorectal Cancer Prognosis and Metastasis., [RefSeq, PubMed]; ICAM-1 Deletion Using CRISPR/Cas9 Protects the Brain from Traumatic Brain Injury-Induced Inflammatory Leukocyte Adhesion and Transmigration Cascades by Attenuating the Paxillin/FAK-Dependent Rho GTPase Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Paxillin participates in the sphingosylphosphorylcholine-induced abnormal contraction of vascular smooth muscle by regulating Rho-kinase activation. Publication Status: Online-Only, [RefSeq, PubMed]; Paxillin phase separation promotes focal adhesion assembly and integrin signaling., [RefSeq, PubMed]; Paxillin regulates androgen receptor expression associated with granulosa cell focal adhesions., [RefSeq, PubMed]; This gene encodes a cytoskeletal protein involved in actin-membrane attachment at sites of cell adhesion to the extracellular matrix (focal adhesion). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. These isoforms exhibit different expression pattern, and have different biochemical, as well as physiological properties (PMID:9054445). [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": 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": 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": 37, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "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": "B2RAI3;B7ZMB4;O14970;O14971;O60360;Q5HYA4", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0038191 neuropilin binding;GO:0008013 beta-catenin binding;GO:0017166 vinculin binding;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005925 focal adhesion;GO:0005938 cell cortex", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0016477 cell migration;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0051496 positive regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 28.6, "record_id": "P49023-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52943-1", "uniprot_id": [ { "id": "CRIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52943", "type": "external" } ], "mass": 22493.0, "length": 208, "protein_name": "Cysteine-rich protein 2", "gene_name": "CRIP2", "organism": "Human", "refseq_name": "cysteine-rich protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001257766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257766", "type": "external" } ], "gene_names_uniprotkb": "CRIP2; CRP2", "gene_names_refseq": "CRIP2; CRIP; CRP2; ESP1", "protein_names_uniprotkb": "Cysteine-rich protein 2; CRP-2; Protein ESP1", "protein_names_refseq": "Cysteine-rich intestinal protein; LIM domain protein ESP1/CRP2; cysteine-rich protein 2 isoform 2", "tax_id": 9606, "disease": "leukodystrophy (Disease Ontology:DOID:10579); cystic fibrosis (Disease Ontology:DOID:1485); myopathy (Disease Ontology:DOID:423); primary hyperaldosteronism (Disease Ontology:DOID:446)", "pathway": " (hsa:1397)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10681529;11237011;12530967;18083107;18669648;18707149;19608861;19615748;20068231;20166139;20460109;24275569;24714562;25576301;26883198;27452731;29557506;29662084;29786170;30429286;31154438;31373491;32157095;32938616;33091337;33214551;33592498;34019948;34087483;34550632;34773852;35051231;35254053;36284347;37217939;37938771;38665916;40596516;8824798;8843343", "class_list": "", "function": "APEX2-based Proximity Labeling of Atox1 Identifies CRIP2 as a Nuclear Copper-binding Protein that Regulates Autophagy Activation., [RefSeq, PubMed]; Function of avian CRIP2 in smooth muscle differentiation, [RefSeq, PubMed]; HOXA9 inhibits HIF1A-mediated glycolysis through interacting with CRIP2 to repress cutaneous squamous cell carcinoma development. Publication Status: Online-Only, [RefSeq, PubMed]; High CRP2 expression is associated with breast cancer cell invasion and metastasis., [RefSeq, PubMed]; Prognosis biomarker and potential therapeutic target CRIP2 associated with radiosensitivity in NSCLC cells., [RefSeq, PubMed]; These findings suggest that ADAM19 autolysis is activated by lipopolysaccharide and that ADAM19 promotes the secretion of CRIP2., [RefSeq, PubMed]; This gene encodes a putative transcription factor with two LIM zinc-binding domains. The encoded protein may participate in the differentiation of smooth muscle tissue. Alternative splicing results in multiple transcript variants. [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": 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": 6, "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": "A1A4U1;B7Z6C0;E9PD13", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005938 cell cortex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P52943-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9Q2-1", "uniprot_id": [ { "id": "CSN7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9Q2", "type": "external" } ], "mass": 29622.0, "length": 264, "protein_name": "COP9 signalosome complex subunit 7b", "gene_name": "COPS7B", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 7b isoform a", "refseq_ac": [ { "id": "NP_001269879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269879", "type": "external" } ], "gene_names_uniprotkb": "COPS7B; CSN7B", "gene_names_refseq": "COPS7B; CSN7B; SGN7b", "protein_names_uniprotkb": "COP9 signalosome complex subunit 7b; JAB1-containing signalosome subunit 7b; SGN7b; Signalosome subunit 7b", "protein_names_refseq": "COP9 constitutive photomorphogenic homolog subunit 7B; COP9 signalosome complex subunit 7b isoform a; COP9 signalosome complex subunit 7b; JAB1-containing signalosome subunit 7b; signalosome subunit 7b", "tax_id": 9606, "disease": "", "pathway": " (hsa:64708); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664)", "pathway_count": 5, "publication_count": 265, "publication_id_list": "10097102;10391953;10436022;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10944529;10973499;10983987;11069780;11071885;11076969;11237011;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11454738;11454741;11585840;11588219;11733065;11904382;11919637;11927540;11961546;11988742;12086608;12101228;12186903;12208738;12220626;12221107;12234931;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12682069;12717448;12732143;12759363;12815074;12816948;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15134832;15282312;1535555;15361859;15367669;15473838;15537541;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;15811629;15882621;15964821;16159959;16171779;16223728;16401342;16459302;16460808;16473935;16516836;16547496;16647857;16678110;16707496;16723738;16751180;16790436;16903783;16943200;17081101;17132228;17183367;17220875;17267500;17290000;17332328;17360967;17456551;17497243;17522231;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18614043;18775313;18775314;18776931;18805092;18819912;18826954;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19609301;19617556;1968060;19690332;19696798;19732400;19748355;19853559;20068231;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21447816;21463634;21778237;21863050;21940857;21995445;22118460;22118466;22306028;22357968;22466610;22466611;22466612;22466964;22484487;22537386;2257624;22898188;22902626;22942912;22959436;23045548;23201271;23301498;23319653;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24127601;24186068;24366543;24384571;24636985;24680432;24746795;24793695;24793696;25154395;25314029;25349211;25355947;25418920;25435140;25531226;25645385;26344709;26403691;26456823;26460955;26632597;26829388;26906416;26992070;27030794;27222660;27565346;28115426;28228285;28832583;2890644;29153394;29242379;29632046;30315122;30524438;30610225;31844290;31937595;32005965;32157095;32284348;32355176;32387766;32488085;32502341;32897882;33141586;33298915;33444648;33503427;33968037;3417785;34211107;34229054;34509645;35580925;36010968;36241641;37560971;40914422;7569928;7822302;8078911;8168482;8553074;8837779;8876179;9169477;9303539;9326587;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "CSN7B defines a variant COP9 signalosome complex with distinct function in DNA damage response., [RefSeq, PubMed]; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, JUN, I-kappa-B-alpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The IGF2BP3-COPS7B Axis Facilitates mRNA Translation to Drive Colorectal Cancer 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53S22;Q5BJG3;Q9H7V6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0008180 COP9 signalosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0010387 COP9 signalosome assembly;GO:0000338 protein deneddylation;GO:2000434 regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "Q9H9Q2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MY1-1", "uniprot_id": [ { "id": "NOL4L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MY1", "type": "external" } ], "mass": 47215.0, "length": 436, "protein_name": "Nucleolar protein 4-like", "gene_name": "NOL4L", "organism": "Human", "refseq_name": "nucleolar protein 4-like isoform 1", "refseq_ac": [ { "id": "NP_001243727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243727", "type": "external" } ], "gene_names_uniprotkb": "NOL4L; C20orf112; C20orf113", "gene_names_refseq": "C20orf112; C20orf113; NOL4L", "protein_names_uniprotkb": "Nucleolar protein 4-like", "protein_names_refseq": "nucleolar protein 4-like isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:140688)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;15302935;18077418;18452278;18491316;18669648;19664994;19664995;20068231;20520637;21765475;23186163;23481700;27600516;29485866;29557506;30059200;31217245;32157095;32387766;32522628;32938616;33214551;33940382;34019948;34087483;34509645;34846842;35132862;35254053;35513511;36010968;37340703;38665916;39531497;39534244;39894887;40136647", "class_list": "", "function": "LncRNA double homeobox A pseudogene 8 (DUXAP8) facilitates the progression of neuroblastoma and activates Wnt/beta-catenin pathway via microRNA-29/nucleolar protein 4 like (NOL4L) axis., [RefSeq, PubMed]; NOL4L, a novel nuclear protein, promotes cell proliferation and metastasis by enhancing the PI3K/AKT pathway in ovarian cancer., [RefSeq, PubMed]; Report characterization of two chimeric transcripts identified in AML translocation cases involving CBFA2T2 and C20orf112, [RefSeq, PubMed]; The leukemogenic PAX5-C20S fusion protein is a tetramer, which interacts extraordinarily stably with chromatin as determined by Fluorescence Recovery After Photobleaching in living 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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q5JYB7;Q6P0Y4;Q9BR34;Q9NQF6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96MY1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29074-1", "uniprot_id": [ { "id": "PTN4_HUMAN", "url": "https://www.uniprot.org/uniprot/P29074", "type": "external" } ], "mass": 105911.0, "length": 926, "protein_name": "Tyrosine-protein phosphatase non-receptor type 4", "gene_name": "PTPN4", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 4", "refseq_ac": [ { "id": "NP_002821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002821", "type": "external" } ], "gene_names_uniprotkb": "PTPN4", "gene_names_refseq": "MEG; PTPMEG1; PTPMEG; PTPN4", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 4; 3.1.3.48; MEG; PTPase-MEG1; Protein-tyrosine phosphatase MEG1", "protein_names_refseq": "PTPase-MEG1; megakaryocyte phosphatase; megakaryocyte protein-tyrosine phosphatase; protein tyrosine phosphatase MEG1; protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte); tyrosine-protein phosphatase non-receptor type 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:5775); (R-HSA-166016); (R-HSA-9008059); (R-HSA-9022699)", "pathway_count": 4, "publication_count": 68, "publication_id_list": "10201950;11145836;11237011;11274165;11839743;12096920;12381835;12471095;12809600;14556004;15276183;15527767;15596121;16303959;16467847;1648233;16751103;16757566;18222170;18233961;18297073;18390730;20086240;20935647;22078883;22158869;2341370;24150225;24397554;24481253;2462607;2477488;25424712;25729923;25825441;26214522;26992070;27060871;27246854;27862975;28092676;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29769354;30315122;31154438;31844290;31848261;32357974;32983136;33912179;35089587;3537192;35494241;35580925;36042375;37217939;37747937;38630149;38761175;8483328;8910369;9665271", "class_list": "", "function": "CircRNA-PTPN4 mediated regulation of FOXO3 and ZO-1 expression: implications for blood-brain barrier integrity and cognitive function in uremic encephalopathy. Publication Status: Online-Only, [RefSeq, PubMed]; E3 Ubiquitin Ligase MARCH8 Promotes Pancreatic Cancer Growth and Metastasis by Activating STAT3 via Degradation of PTPN4., [RefSeq, PubMed]; LncRNA SH3BP5-AS1 promotes hepatocellular carcinoma progression by sponging miR-6838-5p and activation of PTPN4., [RefSeq, PubMed]; MicroRNA-375 is a therapeutic target for castration-resistant prostate cancer through the PTPN4/STAT3 axis., [RefSeq, PubMed]; Phosphatase that plays a role in immunity, learning, synaptic plasticity or cell homeostasis (PubMed:25825441, PubMed:27246854). Regulates neuronal cell homeostasis by protecting neurons against apoptosis (PubMed:20086240). Negatively regulates TLR4-induced interferon beta production by dephosphorylating adapter TICAM2 and inhibiting subsequent TRAM-TRIF interaction (PubMed:25825441). Also dephosphorylates the immunoreceptor tyrosine-based activation motifs/ITAMs of the TCR zeta subunit and thereby negatively regulates TCR-mediated signaling pathway (By similarity). May act at junctions between the membrane and the cytoskeleton., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Structural and biochemical analysis of the PTPN4 PDZ domain bound to the C-terminal tail of the human papillomavirus E6 oncoprotein., [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RBV8;Q9UDA7", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0008092 cytoskeletal protein binding;GO:0035254 glutamate receptor binding;GO:0004726 non-membrane spanning protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P29074-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100100001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37268-1", "uniprot_id": [ { "id": "FDFT_HUMAN", "url": "https://www.uniprot.org/uniprot/P37268", "type": "external" } ], "mass": 48115.0, "length": 417, "protein_name": "Squalene synthase", "gene_name": "FDFT1", "organism": "Human", "refseq_name": "squalene synthase isoform 1", "refseq_ac": [ { "id": "NP_001274671", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274671", "type": "external" } ], "gene_names_uniprotkb": "FDFT1", "gene_names_refseq": "DGPT; ERG9; FDFT1; SQSD; SQS; SS", "protein_names_uniprotkb": "Squalene synthase; 2.5.1.21; FPP:FPP farnesyltransferase; Farnesyl-diphosphate farnesyltransferase 1; Farnesyl-diphosphate farnesyltransferase; SQS; SS", "protein_names_refseq": "FPP:FPP farnesyltransferase; presqualene-di-diphosphate synthase; squalene synthase isoform 1; squalene synthase; squalene synthetase", "tax_id": 9606, "disease": "generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); Dravet syndrome (Disease Ontology:DOID:0080422); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); familial episodic pain syndrome 2 (Disease Ontology:DOID:0111730); sciatic neuropathy (Disease Ontology:DOID:11446); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); cataract (Disease Ontology:DOID:83); squalene synthase deficiency (MONDO:MONDO:0032566)", "pathway": " (hsa:2222); (R-HSA-1989781); (R-HSA-2426168); (R-HSA-9969896)", "pathway_count": 4, "publication_count": 195, "publication_id_list": "10026212;10400691;10620343;10666321;10759542;10777541;10896663;11160603;11237011;11267664;11414710;11875071;12042320;12083769;12118000;12177166;12505311;12582161;12764144;1377680;14729858;14730012;14766201;14978097;15067378;15104674;15130092;15635043;15944288;16380219;16464866;16519518;16684881;16972786;17308301;17449569;17925399;18327899;18350552;18540824;18559965;18654640;18682402;18719978;18726356;18848529;18937434;19088433;1968462;19710929;19934321;20110263;20112406;20138239;20394422;20450493;20719759;20937905;21420384;22424782;22634312;22645359;23481700;24196956;24366607;24397554;24531458;24714562;24715725;25418920;25469497;25502872;25576301;25802875;25880248;25892735;26024233;26154972;26758079;26811146;26929215;26992070;27397612;27543614;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29909962;30315122;30410026;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33246356;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33744759;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34725712;34932366;34939274;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38218226;38810354;40914422;5918048;7567999;7592729;7685352;7732023;7864626;7892212;7909540;7911016;7913309;8020941;8294001;8474436;8593458;8619637;8626466;8626488;8647822;8663599;8798690;8806705;8976377;9012850;9099716;9380443;9604010;9634533;9741684;9748239;9748295", "class_list": "", "function": "Catalyzes the condensation of 2 farnesyl pyrophosphate (FPP) moieties to form squalene. Proceeds in two distinct steps. In the first half-reaction, two molecules of FPP react to form the stable presqualene diphosphate intermediate (PSQPP), with concomitant release of a proton and a molecule of inorganic diphosphate. In the second half-reaction, PSQPP undergoes heterolysis, isomerization, and reduction with NADPH or NADH to form squalene. It is the first committed enzyme of the sterol biosynthesis pathway., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Intramembrane protease SPP defines a cholesterol-regulated abundance control of the mevalonate pathway enzyme squalene synthase., [RefSeq, PubMed]; Spectroscopic diagnosis and metabolite characterization of cisplatin resistance regulated by FDFT1 in bladder cancer tissue., [RefSeq, PubMed]; Squalene synthase predicts poor prognosis in stage I-III colon adenocarcinoma and synergizes squalene epoxidase to promote tumor progression., [RefSeq, PubMed]; This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]., [RefSeq]; Ubiquitin specific peptidase 32 acts as an oncogene in epithelial ovarian cancer by deubiquitylating farnesyl-diphosphate farnesyltransferase 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ95;B4DJE5;B4DT56;B7Z1J3;Q96GT0", "ec_number_list": [ { "id": "2.5.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.21", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051996 squalene synthase [NAD(P)H] activity;GO:0055056 D-glucose transmembrane transporter activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006695 cholesterol biosynthetic process;GO:0006694 steroid biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol;GO:0033490 cholesterol biosynthetic process via lathosterol;GO:0045338 farnesyl diphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "P37268-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEU8-1", "uniprot_id": [ { "id": "DP13B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEU8", "type": "external" } ], "mass": 74493.0, "length": 664, "protein_name": "DCC-interacting protein 13-beta", "gene_name": "APPL2", "organism": "Human", "refseq_name": "DCC-interacting protein 13-beta isoform 2", "refseq_ac": [ { "id": "NP_001238833", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238833", "type": "external" } ], "gene_names_uniprotkb": "APPL2; DIP13B", "gene_names_refseq": "APPL2; DIP13B", "protein_names_uniprotkb": "DCC-interacting protein 13-beta; Adapter protein containing PH domain, PTB domain and leucine zipper motif 2; Dip13-beta", "protein_names_refseq": "DCC-interacting protein 13-beta isoform 2; DCC-interacting protein 13-beta; DIP13 beta; adapter protein containing PH domain, PTB domain and leucine zipper motif 2; adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55198)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;11431708;15016378;17030088;18034774;19433865;21645192;23055524;24366607;24879834;25576301;26154972;26583432;26992070;27846572;27862975;27920218;28832583;28834231;28904123;29557506;29632711;29789417;30379171;30429286;31154438;31530632;31844290;31848261;32157095;32387766;32488085;32938616;33122440;33592498;33936100;33968037;34087483;34171305;35051231;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "Identification of a pathway directly linking the small GTPase Rab5, a key regulator of endocytosis, to signal transduction and mitogenesis via APPL1 and APPL2, two Rab5 effectors, [RefSeq, PubMed]; Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:15016378, PubMed:24879834, PubMed:26583432). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses. In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 leading to activation of PI3K/Akt signaling. In response to LPS, modulates inflammatory responses by playing a key role on the regulation of TLR4 signaling and in the nuclear translocation of RELA/NF-kappa-B p65 and the secretion of pro- and anti-inflammatory cytokines. Also functions as a negative regulator of innate immune response via inhibition of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (By similarity). Plays a role in endosomal trafficking of TGFBR1 from the endosomes to the nucleus (PubMed:26583432). Plays a role in cell metabolism by regulating adiponecting and insulin signaling pathways and adaptative thermogenesis (By similarity) (PubMed:24879834). In muscle, negatively regulates adiponectin-simulated glucose uptake and fatty acid oxidation by inhibiting adiponectin signaling pathway through APPL1 sequestration thereby antagonizing APPL1 action (By similarity). In muscles, negatively regulates insulin-induced plasma membrane recruitment of GLUT4 and glucose uptake through interaction with TBC1D1 (PubMed:24879834). Plays a role in cold and diet-induced adaptive thermogenesis by activating ventromedial hypothalamus (VMH) neurons throught AMPK inhibition which enhances sympathetic outflow to subcutaneous white adipose tissue (sWAT), sWAT beiging and cold tolerance (By similarity). Also plays a role in other signaling pathways namely Wnt/beta-catenin, HGF and glucocorticoid receptor signaling (By similarity) (PubMed:19433865). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2-mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (PubMed:19433865). May affect adult neurogenesis in hippocampus and olfactory system via regulating the sensitivity of glucocorticoid receptor. Required for fibroblast migration through HGF cell signaling (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The adaptor protein APPL2 controls glucose-stimulated insulin secretion via F-actin remodeling in pancreatic beta-cells., [RefSeq, PubMed]; The findings suggest a role for APPL1 and APPL2 protein as dynamic scaffolds that modulate RAB5-associated signaling endosomal membranes by their ability to undergo domain-mediated oligomerization, membrane targeting and phosphoinositide binding. Erratum:[Traffic. 2008 Apr;9(4):623-4], [RefSeq, PubMed]; The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [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": 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": "B7Z411;B7Z4B0;F5GZG0;F8W1P5;Q8N4R7;Q9NVL2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding;GO:0001786 phosphatidylserine binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010762 regulation of fibroblast migration;GO:0007165 signal transduction;GO:0046322 negative regulation of fatty acid oxidation;GO:0051289 protein homotetramerization;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q8NEU8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCH3-1", "uniprot_id": [ { "id": "CPNE5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCH3", "type": "external" } ], "mass": 65734.0, "length": 593, "protein_name": "Copine-5", "gene_name": "CPNE5", "organism": "Human", "refseq_name": "copine-5 isoform c", "refseq_ac": [ { "id": "NP_001300947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300947", "type": "external" } ], "gene_names_uniprotkb": "CPNE5; KIAA1599", "gene_names_refseq": "COPN5; CPN5; CPNE5", "protein_names_uniprotkb": "Copine-5; Copine V", "protein_names_refseq": "copine V; copine-5 isoform c", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); endometrial cancer (Disease Ontology:DOID:1380); ovarian cancer (Disease Ontology:DOID:2394); prostate adenocarcinoma (Disease Ontology:DOID:2526); transitional cell carcinoma (Disease Ontology:DOID:2671); cervix carcinoma (Disease Ontology:DOID:2893); severe acute respiratory syndrome (Disease Ontology:DOID:2945); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:57699)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;12949241;18669648;23999003;24715725;25892735;26522866;28228285;28832583;28904123;29242379;29508533;29557506;29769354;30272363;30429286;30484775;31844290;32157095;32502341;33298915;33691108;33780365;34087483;35051231", "class_list": "", "function": "Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]., [RefSeq]; Data revealed that CPNE5 mRNA expression was significantly lower in ESCC tissues and cell lines and correlated with significantly shorter overall survival. Multivariable analysis identified low CPNE5 expression to be an independent prognostic factor of OS. Analysis of recurrence patterns revealed that significantly more patients with local recurrence expressed lower levels of CPNE5 mRNA., [RefSeq, PubMed]; High expression of CPNE5 and CPNE9 predicts positive prognosis in multiple myeloma., [RefSeq, PubMed]; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Results provide the first evidence of genetic variants in the CPNE5 gene influencing both alcohol dependence and obesity, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "Q7Z6C8", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043204 perikaryon;GO:0070062 extracellular exosome;GO:0043005 neuron projection;GO:0042995 cell projection", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9HCH3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60759-1", "uniprot_id": [ { "id": "CYTIP_HUMAN", "url": "https://www.uniprot.org/uniprot/O60759", "type": "external" } ], "mass": 40010.0, "length": 359, "protein_name": "Cytohesin-interacting protein", "gene_name": "CYTIP", "organism": "Human", "refseq_name": "cytohesin-interacting protein", "refseq_ac": [ { "id": "NP_004279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004279", "type": "external" } ], "gene_names_uniprotkb": "CYTIP; PSCDBP", "gene_names_refseq": "B3-1; CASP; CYBR; CYTHIP; CYTIP; HE; PSCDBP", "protein_names_uniprotkb": "Cytohesin-interacting protein; CASP; CYBR; Cbp HE; Cytohesin binder and regulator; Cytohesin-associated scaffolding protein; Cytohesin-binding protein HE; Pleckstrin homology Sec7 and coiled-coil domains-binding protein", "protein_names_refseq": "cbp HE; cytohesin binder and regulator; cytohesin binding protein HE; cytohesin-associated scaffolding protein; cytohesin-interacting protein; pleckstrin homology Sec7 and coiled-coil domains-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9595)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;11867758;12052827;12606567;15118850;17577583;18077418;20058876;21248752;22424782;23481700;24714562;24715725;25505266;25576301;26154972;26375851;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32983136;33091337;33141586;33298915;33691108;33912179;33936100;34185709;34561969;34932366;35015072;35051231;35154160;35580925;8241278", "class_list": "", "function": "By its binding to cytohesin-1 (CYTH1), it modifies activation of ARFs by CYTH1 and its precise function may be to sequester CYTH1 in the cytoplasm., [UniProtKB, UniProtKB, UniProtKB]; Observations suggest that CASP is a scaffolding protein that facilitates the function of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli, [RefSeq, PubMed]; The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[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": 3, "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": "B4DWH9;Q15630;Q8NE32", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005938 cell cortex", "go_biological_process": "GO:0030155 regulation of cell adhesion", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O60759-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00341-1", "uniprot_id": [ { "id": "VIGLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00341", "type": "external" } ], "mass": 141440.0, "length": 1268, "protein_name": "Vigilin", "gene_name": "HDLBP", "organism": "Human", "refseq_name": "vigilin isoform b", "refseq_ac": [ { "id": "NP_001230829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230829", "type": "external" } ], "gene_names_uniprotkb": "HDLBP; HBP; VGL", "gene_names_refseq": "HBP; HDLBP; PRO2900; VGL", "protein_names_uniprotkb": "Vigilin; HDL-binding protein; High density lipoprotein-binding protein", "protein_names_refseq": "HDL-binding protein; vigilin isoform b; vigilin", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:3069); (R-HSA-8964011); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10371504;11237011;11284697;11561168;12788804;1318310;15302935;15592455;16408927;16959974;17652309;18083107;18212344;18452278;18669648;18767875;18991276;19369195;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068230;20068231;20166139;21406692;22223895;23186163;23301498;24275569;25645385;26728094;26735137;29117567;29393594;29632046;30315122;30379171;30397120;30429286;30779550;30833945;31154438;31222486;31492838;31530632;31848261;31937595;31998317;32161166;32265295;32357974;32387766;32890404;33043033;33214551;34019948;34229054;34696522;34725712;35585045;36122630;36244648;36423520;36758804;37938771;38177122;38665916;40596516;8605996;9211901", "class_list": "", "function": "Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; HDLBP Promotes Hepatocellular Carcinoma Proliferation and Sorafenib Resistance by Suppressing Trim71-dependent RAF1 Degradation., [RefSeq, PubMed]; HDLBP-stabilized lncFAL inhibits ferroptosis vulnerability by diminishing Trim69-dependent FSP1 degradation in hepatocellular carcinoma., [RefSeq, PubMed]; Multifaceted functions of RNA-binding protein vigilin in gene silencing, genome stability, and autism-related disorders. Review article, [RefSeq, PubMed]; The lipid transporter HDLBP promotes hepatocellular carcinoma metastasis through BRAF-dependent epithelial-mesenchymal transition., [RefSeq, PubMed]; The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [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": 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": 24, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "B4DTQ2;E7EM71;Q53QU2;Q9UCY3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0045296 cadherin binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0034364 high-density lipoprotein particle;GO:0016604 nuclear body", "go_biological_process": "GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q00341-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8M7-1", "uniprot_id": [ { "id": "MINY3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8M7", "type": "external" } ], "mass": 49725.0, "length": 445, "protein_name": "Ubiquitin carboxyl-terminal hydrolase MINDY-3", "gene_name": "MINDY3", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase MINDY-3 isoform b precursor", "refseq_ac": [ { "id": "NP_001305259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305259", "type": "external" } ], "gene_names_uniprotkb": "MINDY3; C10orf97; CARP; DERP5; FAM188A; MSTP126; My042", "gene_names_refseq": "C10orf97; CARP; DERP5; FAM188A; MINDY3; MST126; MSTP126; my042", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase MINDY-3; 3.4.19.12; Dermal papilla-derived protein 5; Deubiquitinating enzyme MINDY-3; Protein CARP", "protein_names_refseq": "CARD-containing protein; MINDY deubiquitinase 3; caspase recruitment domain containing pro-apoptotic protein; dermal papilla-derived protein 5; deubiquitinating enzyme MINDY-3; family with sequence similarity 188 member A; protein FAM188A; ubiquitin carboxyl-terminal hydrolase FAM188A; ubiquitin carboxyl-terminal hydrolase MINDY-3 isoform b precursor; ubiquitin carboxyl-terminal hydrolase MINDY-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:80013)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12054670;18669648;21499297;23301498;24870804;27292798;29557506;30379171;31844290;32938616;33392160;34357683;35251023;39229655", "class_list": "", "function": "CARP is a novel caspase recruitment domain containing pro-apoptotic protein. (CARP, CARD containing Protein), [RefSeq, PubMed]; CARP is a potential tumor suppressor of gastric carcinoma and the rs2297882 C>T phenotype of CARP may serve as a predictor of gastric carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CircFAM188A Regulates Autophagy via miR-670-3p and ULK1 in Epithelial Ovarian Carcinoma., [RefSeq, PubMed]; Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results indicated that C10ORF97 functions as a novel tumor suppressor by modulating several key G(1)/S-regulatory proteins by interacting with JAB1, [RefSeq, PubMed]; The protein encoded by this gene contains a caspase-associated recruitment domain and may function in apoptosis. It has been identified as a tumor suppressor in lung and gastric cancers, and a polymorphism in the gene may be associated with gastric cancer risk. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SZ68;Q5SZ69;Q5SZ70;Q6IA40;Q6P7P0;Q7Z2S1;Q8WUF1;Q9H3I4", "ec_number_list": [], "go_molecular_function": "GO:0004843 cysteine-type deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006915 apoptotic process;GO:0071108 protein K48-linked deubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9H8M7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23508-1", "uniprot_id": [ { "id": "CRCM_HUMAN", "url": "https://www.uniprot.org/uniprot/P23508", "type": "external" } ], "mass": 93027.0, "length": 829, "protein_name": "Colorectal mutant cancer protein", "gene_name": "MCC", "organism": "Human", "refseq_name": "colorectal mutant cancer protein isoform 1", "refseq_ac": [ { "id": "NP_001078846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078846", "type": "external" } ], "gene_names_uniprotkb": "MCC", "gene_names_refseq": "MCC1; MCC", "protein_names_uniprotkb": "Colorectal mutant cancer protein; Protein MCC", "protein_names_refseq": "MCC, WNT signaling pathway regulator; colorectal mutant cancer protein isoform 1; mutated in colorectal cancers", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:4163)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;1651563;1848370;18591935;19413330;19555689;19664994;19664995;20068231;21779472;22480440;24715725;24824780;25576301;25892735;26992070;27600516;27862975;27869121;27932480;28228285;28832583;29242379;29508533;29557506;29769354;29786170;30379171;30429286;30779550;31844290;32157095;32357974;32488085;32938616;33592498;33968037;33981976;34185709;35051231;35580925;36010968;36241641;36284347;36781503;37938771", "class_list": "", "function": "Candidate for the putative colorectal tumor suppressor gene located at 5q21. Suppresses cell proliferation and the Wnt/b-catenin pathway in colorectal cancer cells. Inhibits DNA binding of b-catenin/TCF/LEF transcription factors. Involved in cell migration independently of RAC1, CDC42 and p21-activated kinase (PAK) activation (PubMed:18591935, PubMed:19555689, PubMed:22480440). Represses the beta-catenin pathway (canonical Wnt signaling pathway) in a CCAR2-dependent manner by sequestering CCAR2 to the cytoplasm, thereby impairing its ability to inhibit SIRT1 which is involved in the deacetylation and negative regulation of beta-catenin (CTNB1) transcriptional activity (PubMed:24824780)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DT05;Q6ZR04", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0010633 negative regulation of epithelial cell migration;GO:0007165 signal transduction;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0050680 negative regulation of epithelial cell proliferation;GO:0045184 establishment of protein localization", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P23508-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RY0-1", "uniprot_id": [ { "id": "CPEB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RY0", "type": "external" } ], "mass": 80152.0, "length": 729, "protein_name": "Cytoplasmic polyadenylation element-binding protein 4", "gene_name": "CPEB4", "organism": "Human", "refseq_name": "cytoplasmic polyadenylation element-binding protein 4 isoform b", "refseq_ac": [ { "id": "NP_001295118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295118", "type": "external" } ], "gene_names_uniprotkb": "CPEB4; KIAA1673", "gene_names_refseq": "CPE-BP4; CPEB4; hCPEB-4", "protein_names_uniprotkb": "Cytoplasmic polyadenylation element-binding protein 4; CPE-BP4; CPE-binding protein 4; hCPEB-4", "protein_names_refseq": "CPE-binding protein 4; cytoplasmic polyadenylation element-binding protein 4 isoform b", "tax_id": 9606, "disease": "portal hypertension (Disease Ontology:DOID:10762); primary biliary cholangitis (Disease Ontology:DOID:12236); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:80315)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;18452278;18669648;19413330;20068231;21336257;22138752;23186163;23481700;24275569;24990967;26375851;26398195;26992070;27600516;27857118;27920218;28649982;28832583;28904123;29393594;29557506;29632046;29789417;30315122;30779550;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33237662;33298915;33592498;33912179;33968037;34774811;35051231;35442882;35580925;36284347;36919984;37541260;37938771;38305290;38665916", "class_list": "", "function": "Antitumor T-cell function requires CPEB4-mediated adaptation to chronic endoplasmic reticulum stress., [RefSeq, PubMed]; Down-Regulation of CPEB4 Alleviates Preeclampsia through the Inhibition of Ferroptosis by PFKFB3., [RefSeq, PubMed]; Investigation of the expression levels of CPEB4, APC, TRIP13, EIF2S3, EIF4A1, IFNg, PIK3CA and CTNNB1 genes in different stage colorectal tumors Publication Status: Online-Only, [RefSeq, PubMed]; Macrophage inflammation resolution requires CPEB4-directed offsetting of mRNA degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific RNA-binding protein that binds to the cytoplasmic polyadenylation element (CPE), an uridine-rich sequence element (consensus sequence 5'-UUUUUAU-3') within the mRNA 3'-UTR (PubMed:24990967). RNA binding results in a clear conformational change analogous to the Venus fly trap mechanism (PubMed:24990967). Regulates activation of unfolded protein response (UPR) in the process of adaptation to ER stress in liver, by maintaining translation of CPE-regulated mRNAs in conditions in which global protein synthesis is inhibited (By similarity). Required for cell cycle progression, specifically for cytokinesis and chromosomal segregation (PubMed:26398195). Plays a role as an oncogene promoting tumor growth and progression by positively regulating translation of t-plasminogen activator/PLAT (PubMed:22138752). Stimulates proliferation of melanocytes (PubMed:27857118). In contrast to CPEB1 and CPEB3, does not play role in synaptic plasticity, learning and memory (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Targeting the cytoplasmic polyadenylation element-binding protein CPEB4 protects against diet-induced obesity and microbiome dysbiosis., [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "B7ZLQ7;Q7Z310;Q8N405;Q9C0J0", "ec_number_list": [], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0008135 translation factor activity, RNA binding;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0014069 postsynaptic density;GO:0030425 dendrite", "go_biological_process": "GO:0036294 cellular response to decreased oxygen levels;GO:0002931 response to ischemia;GO:0035235 ionotropic glutamate receptor signaling pathway;GO:0043524 negative regulation of neuron apoptotic process;GO:0042149 cellular response to glucose starvation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q17RY0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09936-1", "uniprot_id": [ { "id": "UCHL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09936", "type": "external" } ], "mass": 24824.0, "length": 223, "protein_name": "Ubiquitin carboxyl-terminal hydrolase isozyme L1", "gene_name": "UCHL1", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase isozyme L1", "refseq_ac": [ { "id": "NP_004172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004172", "type": "external" } ], "gene_names_uniprotkb": "UCHL1", "gene_names_refseq": "HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5; PGP9.5; PGP95; SPG79A; SPG79; UCHL-1; UCHL1; Uch-L1", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase isozyme L1; 3.4.19.12; Neuron cytoplasmic protein 9.5; PGP 9.5; PGP9.5; UCH-L1; Ubiquitin thioesterase L1", "protein_names_refseq": "epididymis luminal protein 117; epididymis secretory protein Li 53; neuron cytoplasmic protein 9.5; ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase); ubiquitin carboxyl-terminal hydrolase isozyme L1; ubiquitin thioesterase L1", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); hereditary spastic paraplegia 79A (Disease Ontology:DOID:0070455); hereditary spastic paraplegia 79B (Disease Ontology:DOID:0112344); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); retinal disease (Disease Ontology:DOID:5679); type 2 diabetes mellitus (Disease Ontology:DOID:9352); Parkinson disease 5, autosomal dominant, susceptibility to (MONDO:MONDO:0013340)", "pathway": " (hsa:7345); (R-HSA-5689603)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10203348;10454131;11027850;11237011;12082530;12408865;12705903;1286667;14722078;15048890;16450370;16475834;16537382;16906146;17139257;18411255;1849484;18497827;18507432;19188440;19261853;19608861;19815555;20068231;20436459;20439756;20805357;21268678;2163617;22212137;23301498;23359680;2530630;25418920;25469497;25615526;26154972;26811146;27846572;27920218;28007905;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29314611;29393594;29437277;2947814;29557506;29632046;29632711;29786170;30315122;30429286;31844290;31937595;32157095;32265295;32350084;32357974;32488085;32502341;32938616;33141586;33214551;33298915;33592498;33691108;33936100;34019948;34087483;34171305;34229054;34357683;35051231;35561310;35580925;35986737;36010968;36241641;37316325;37938771;38279302;38665916;38669140;39030458;39045738;39367569;8639624;9528852;9774100;9790970", "class_list": "", "function": "Deubiquitinase that plays a role in the regulation of several processes such as maintenance of synaptic function, cardiac function, inflammatory response or osteoclastogenesis (PubMed:22212137, PubMed:23359680). Abrogates the ubiquitination of multiple proteins including WWTR1/TAZ, EGFR, HIF1A and beta-site amyloid precursor protein cleaving enzyme 1/BACE1 (PubMed:22212137, PubMed:25615526). In addition, recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin to maintain a stable pool of monoubiquitin that is a key requirement for the ubiquitin-proteasome and the autophagy-lysosome pathways (PubMed:12408865, PubMed:8639624, PubMed:9774100). Regulates amyloid precursor protein/APP processing by promoting BACE1 degradation resulting in decreased amyloid beta production (PubMed:22212137). Plays a role in the immune response by regulating the ability of MHC I molecules to reach cross-presentation compartments competent for generating Ag-MHC I complexes (By similarity). Mediates the 'Lys-48'-linked deubiquitination of the transcriptional coactivator WWTR1/TAZ leading to its stabilization and inhibition of osteoclastogenesis (By similarity). Deubiquitinates and stabilizes epidermal growth factor receptor EGFR to prevent its degradation and to activate its downstream mediators (By similarity). Modulates oxidative activity in skeletal muscle by regulating key mitochondrial oxidative proteins (By similarity). Enhances the activity of hypoxia-inducible factor 1-alpha/HIF1A by abrogateing its VHL E3 ligase-mediated ubiquitination and consequently inhibiting its degradation (PubMed:25615526)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Inhibition of Ubiquitin C-Terminal Hydrolase L1 Facilitates Cutaneous Wound Healing via Activating TGF-beta/Smad Signalling Pathway in Fibroblasts., [RefSeq, PubMed]; Is There a Functional Role for the Knotted Topology in Protein UCH-L1?, [RefSeq, PubMed]; Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia., [RefSeq, PubMed]; Proximity proteomics reveals UCH-L1 as an essential regulator of NLRP3-mediated IL-1beta production in human macrophages and microglia., [RefSeq, PubMed]; The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]., [RefSeq]; Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in Parkinson's Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-protein hydrolase is involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin., [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": 11, "reported_glycation": 0, "reported_snv": 3, "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": "Q4W5K6;Q71UM0", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0030547 signaling receptor inhibitor activity;GO:0008242 omega peptidase activity;GO:0031625 ubiquitin protein ligase binding;GO:0031694 alpha-2A adrenergic receptor binding;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030424 axon;GO:0043025 neuronal cell body", "go_biological_process": "GO:0016579 protein deubiquitination;GO:0016241 regulation of macroautophagy;GO:0071466 cellular response to xenobiotic stimulus;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045821 positive regulation of glycolytic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P09936-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31513-1", "uniprot_id": [ { "id": "FMO3_HUMAN", "url": "https://www.uniprot.org/uniprot/P31513", "type": "external" } ], "mass": 60033.0, "length": 532, "protein_name": "Flavin-containing monooxygenase 3", "gene_name": "FMO3", "organism": "Human", "refseq_name": "flavin-containing monooxygenase 3 isoform a", "refseq_ac": [ { "id": "NP_001002294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002294", "type": "external" } ], "gene_names_uniprotkb": "FMO3", "gene_names_refseq": "FMO3; FMOII; TMAU; dJ127D3.1", "protein_names_uniprotkb": "Flavin-containing monooxygenase 3; 1.14.13.148; 1.14.13.32; 1.14.13.8; Dimethylaniline monooxygenase [N-oxide-forming] 3; Dimethylaniline oxidase 3; FMO 3; FMO II; FMO form 2; Hepatic flavin-containing monooxygenase 3; Trimethylamine monooxygenase", "protein_names_refseq": "FMO form 2; dimethylaniline monooxygenase [N-oxide-forming] 3; dimethylaniline oxidase 3; flavin containing monooxygenase 3; flavin-containing monooxygenase 3 isoform a; hepatic flavin-containing monooxygenase-3; trimethylamine monooxygenase", "tax_id": 9606, "disease": "chromosome 1q21.1 deletion syndrome (Disease Ontology:DOID:0060411); trimethylaminuria (Disease Ontology:DOID:0080361); immunodeficiency 31B (Disease Ontology:DOID:0111944); immunodeficiency 31A (Disease Ontology:DOID:0111945); immunodeficiency 31C (Disease Ontology:DOID:0111946); hypertension (Disease Ontology:DOID:10763); breast cancer (Disease Ontology:DOID:1612); hepatitis C (Disease Ontology:DOID:1883); nephroblastoma (Disease Ontology:DOID:2154); colon adenocarcinoma (Disease Ontology:DOID:234); prostate adenocarcinoma (Disease Ontology:DOID:2526); severe acute respiratory syndrome (Disease Ontology:DOID:2945); angiomyolipoma (Disease Ontology:DOID:3314); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); breast carcinoma (Disease Ontology:DOID:3459); gastric adenocarcinoma (Disease Ontology:DOID:3717); pulmonary fibrosis (Disease Ontology:DOID:3770); tuberculosis (Disease Ontology:DOID:399); inherited metabolic disorder (Disease Ontology:DOID:655)", "pathway": " (hsa:2328); (R-HSA-217271); (R-HSA-5579019)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10338091;10479479;10759686;11191884;11237011;11744609;12527699;12893987;1542660;15618753;15987777;17050781;17531949;23563705;26154972;28904123;29557506;29981269;30381441;31154438;32002290;32156684;32387766;34834137;35051231;35348964;35580925;36889044;37148485;38280279;4195988;5048998;8654418;9224773;9417913;9536088;9776311", "class_list": "", "function": "A family study of compound variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found by urinary phenotyping for trimethylaminuria., [RefSeq, PubMed]; Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Broad spectrum monooxygenase that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including xenobiotics. Catalyzes the S-oxygenation of hypotaurine to produce taurine, an organic osmolyte involved in cell volume regulation as well as a variety of cytoprotective and developmental processes. In vitro, catalyzes the N-oxygenation of trimethylamine (TMA) to produce trimethylamine N-oxide (TMAO) and could therefore participate to the detoxification of this compound that is generated by the action of gut microbiota from dietary precursors such as choline, choline containing compounds, betaine or L-carnitine., [UniProtKB, UniProtKB]; Essential hepatic enzyme that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including drugs as well as dietary compounds (PubMed:10759686, PubMed:30381441, PubMed:32156684). Plays an important role in the metabolism of trimethylamine (TMA), via the production of trimethylamine N-oxide (TMAO) metabolite (PubMed:9776311). TMA is generated by the action of gut microbiota using dietary precursors such as choline, choline containing compounds, betaine or L-carnitine. By regulating TMAO concentration, FMO3 directly impacts both platelet responsiveness and rate of thrombus formation (PubMed:29981269)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Estimation of FMO3 Ontogeny by Mechanistic Population Pharmacokinetic Modelling of Risdiplam and Its Impact on Drug-Drug Interactions in Children., [RefSeq, PubMed]; Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]., [RefSeq]; Possible correlation between high circulatory levels of trimethylamine-N-oxide and 2177G>C polymorphisms of hepatic flavin containing monooxygenase 3 in Kurdish Population with non-alcoholic fatty liver disease., [RefSeq, PubMed]; Rare but impaired flavin-containing monooxygenase 3 (FMO3) variants reported in a recently updated Japanese mega-databank of genome resources., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R816;Q14854;Q8N5N5", "ec_number_list": [ { "id": "1.14.13.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.8", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.14.13.148", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.148", "type": "external" }, { "id": "1.14.13.32", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.32", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.6.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.1", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0034899 trimethylamine monooxygenase activity;GO:0050661 NADP binding;GO:0004499 N,N-dimethylaniline monooxygenase activity;GO:0047638 albendazole monooxygenase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0042412 taurine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P31513-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H295-1", "uniprot_id": [ { "id": "DCSTP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H295", "type": "external" } ], "mass": 53393.0, "length": 470, "protein_name": "Dendritic cell-specific transmembrane protein", "gene_name": "DCSTAMP", "organism": "Human", "refseq_name": "dendritic cell-specific transmembrane protein isoform 2", "refseq_ac": [ { "id": "NP_001244246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244246", "type": "external" } ], "gene_names_uniprotkb": "DCSTAMP; TM7SF4", "gene_names_refseq": "DCSTAMP; FIND; TM7SF4; hDC-STAMP", "protein_names_uniprotkb": "Dendritic cell-specific transmembrane protein; DC-STAMP; Dendrocyte-expressed seven transmembrane protein; FIND; IL-four-induced protein; Transmembrane 7 superfamily member 4; hDC-STAMP", "protein_names_refseq": "DC-specific transmembrane protein; Dendritic cells (DC)-specific transmembrane protein; IL-4-induced protein; IL-Four (IL-4) induced; IL-Four INDuced; IL-four-induced protein; dendritic cell-specific transmembrane protein isoform 2; dendritic cell-specific transmembrane protein; transmembrane 7 superfamily member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:81501); (R-HSA-8874211)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11169400;11345586;11353085;11830526;12138176;15601667;16236796;16469704;16940180;17117415;17712038;17875199;18391022;18952287;19883396;20546900;21767813;22705851;23256041;24126059;25625847;25955804;26636523;26810754;28849122;29145829;29242379;30429286;30705363;31217245;31222486;31848261;32488085;34087483;34185709;35051231;35580925;37058220;9271389", "class_list": "", "function": "An interaction between OS9 and DC-STAMP was confirmed by yeast-2-hybrid analysis and cellular colocalization.ER-to-Golgi translocation of DC-STAMP following TLR stimulation in CHO cells was demonstrated, involving the DC-STAMP/OS9 interaction. The data indicate that OS9 is critically involved in ER-to-Golgi transport of DC-STAMP, and may be important in both myeloid differentiation and cell fusion., [RefSeq, PubMed]; Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget's disease of bone. Publication Status: Online-Only, [RefSeq, PubMed]; Our results suggest that the rare genetic variant of TM7SF4 gene, found in our French-Canadian cohort of patients with Paget's disease of bone and which encodes the DC-STAMP protein, increase the number of nuclei per multinucleated cells and affect DC-STAMP expression during osteoclastogenesis in Paget's disease of bone. Publication Status: Online-Only, [RefSeq, PubMed]; Probable cell surface receptor that plays several roles in cellular fusion, cell differentiation, bone and immune homeostasis. Plays a role in TNFSF11-mediated osteoclastogenesis. Cooperates with OCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Participates in osteoclast bone resorption. Involved in inducing the expression of tartrate-resistant acid phosphatase in osteoclast precursors. Plays a role in haematopoietic stem cell differentiation of bone marrow cells toward the myeloid lineage. Inhibits the development of neutrophilic granulocytes. Plays also a role in the regulation of dendritic cell (DC) antigen presentation activity by controlling phagocytic activity. Involved in the maintenance of immune self-tolerance and avoidance of autoimmune reactions., [UniProtKB]; TM7SF4 may be involved in the progression of lung cancer., [RefSeq, PubMed]; TM7SF4 plays an essential role in regulating cell cycle progression in breast cancer., [RefSeq, PubMed]; The dendritic cell-specific transmembrane protein is a multimembrane-spanning protein preferentially expressed by human DC (hDC)., [RefSeq, PubMed]; This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]., [RefSeq]; Upregulation of dendrocyte-expressed seven transmembrane protein is associated with unfavorable outcomes 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7ZVW2;E7ESG0;Q2M2D5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0034241 positive regulation of macrophage fusion;GO:0045780 positive regulation of bone resorption;GO:0045657 positive regulation of monocyte differentiation;GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9H295-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZE0-1", "uniprot_id": [ { "id": "GLIS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZE0", "type": "external" } ], "mass": 55689.0, "length": 524, "protein_name": "Zinc finger protein GLIS2", "gene_name": "GLIS2", "organism": "Human", "refseq_name": "zinc finger protein GLIS2", "refseq_ac": [ { "id": "NP_001305847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305847", "type": "external" } ], "gene_names_uniprotkb": "GLIS2; NKL", "gene_names_refseq": "GLIS2; NKL; NPHP7", "protein_names_uniprotkb": "Zinc finger protein GLIS2; GLI-similar 2; Neuronal Krueppel-like protein", "protein_names_refseq": "GLI-similar 2; Kruppel-like zinc finger protein GLIS2; nephrocystin-7; neuronal Krueppel-like protein; zinc finger protein GLIS2", "tax_id": 9606, "disease": "nephronophthisis 7 (Disease Ontology:DOID:0111116)", "pathway": " (hsa:84662)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11262234;11738817;11741991;17081983;17289029;17344476;17618285;28218747;28228285;28514659;28904123;29437277;29557506;30315122;30429286;31844290;31848261;32157095;32161166;32357974;32387766;32699115;32938616;32968054;32983136;33912179;33981976;35051231;35367831;36284347;37574724", "class_list": "", "function": "Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway (By similarity). Represses the Hedgehog-dependent expression of Wnt4 (By similarity). Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition (By similarity). Represses transcriptional activation mediated by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation (By similarity)., [UniProtKB]; Characterization of Glis2, a novel gene encoding a Gli-related, Kruppel-like transcription factor with transactivation and repressor functions, [RefSeq, PubMed]; Circular RNA GLIS2 promotes colorectal cancer cell motility via activation of the NF-kappaB pathway. Publication Status: Online-Only, [RefSeq, PubMed]; GLIS2 and CCND1 expression levels in breast cancer patients., [RefSeq, PubMed]; Gene of the month: GLIS1-3., [RefSeq, PubMed]; Glis2 inhibits the epithelial-mesenchymal transition and apoptosis of renal tubule cells by regulating the beta-catenin signalling pathway in diabetic kidney disease., [RefSeq, PubMed]; This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KX84", "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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0097730 non-motile cilium", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BZE0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14654-1", "uniprot_id": [ { "id": "IRS4_HUMAN", "url": "https://www.uniprot.org/uniprot/O14654", "type": "external" } ], "mass": 133768.0, "length": 1257, "protein_name": "Insulin receptor substrate 4", "gene_name": "IRS4", "organism": "Human", "refseq_name": "insulin receptor substrate 4 isoform 1", "refseq_ac": [ { "id": "NP_003595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003595", "type": "external" } ], "gene_names_uniprotkb": "IRS4", "gene_names_refseq": "CHNG9; IRS-4; IRS4; PY160", "protein_names_uniprotkb": "Insulin receptor substrate 4; 160 kDa phosphotyrosine protein; IRS-4; Phosphoprotein of 160 kDa; pp160; py160", "protein_names_refseq": "160 kDa phosphotyrosine protein; insulin receptor substrate 4 isoform 1; phosphoprotein of 160 kDa; pp160", "tax_id": 9606, "disease": "congenital nongoitrous hypothyroidism 9 (Disease Ontology:DOID:0111835); intellectual disability (Disease Ontology:DOID:1059); amnestic disorder (Disease Ontology:DOID:10914); lung cancer (Disease Ontology:DOID:1324); lung non-small cell carcinoma (Disease Ontology:DOID:3908); glucose metabolism disease (Disease Ontology:DOID:4194); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:8471); (R-HSA-2428928)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;10531310;10594015;11237011;11316748;11557037;11912194;12639902;14712218;15182363;15316024;15331607;15870689;16754202;16959974;17408801;18083107;18452278;19413330;21955513;26758079;26992070;28834231;29437277;29557506;30061370;30620550;32119511;32161166;32357974;32870666;32938616;33592498;33968037;34171305;34509645;35051231;35550247;35580925;35743985;36010968;36860195;38253038;7541045;7559478;7876259;8530377;8662806;9003010;9261155;9553137;9614078;9832424;9852124", "class_list": "", "function": "Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth, reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing the function of IRS1 and IRS2., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; FER-mediated phosphorylation and PIK3R2 recruitment on IRS4 promotes AKT activation and tumorigenesis in ovarian cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4., [RefSeq, PubMed]; IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]., [RefSeq]; Patients with Invasive Lobular Carcinoma Show a Significant Increase in IRS-4 Expression Compared to Infiltrative Ductal Carcinoma-A Histopathological Study. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 18, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 8, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005158 insulin receptor binding;GO:0043548 phosphatidylinositol 3-kinase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0008286 insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O14654-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGL1-1", "uniprot_id": [ { "id": "KDM5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGL1", "type": "external" } ], "mass": 175658.0, "length": 1544, "protein_name": "Lysine-specific demethylase 5B", "gene_name": "KDM5B", "organism": "Human", "refseq_name": "lysine-specific demethylase 5B isoform 1", "refseq_ac": [ { "id": "NP_001300971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300971", "type": "external" } ], "gene_names_uniprotkb": "KDM5B; JARID1B; PLU1; RBBP2H1", "gene_names_refseq": "CT31; JARID1B; KDM5B; MRT65; PLU-1; PLU1; PPP1R98; PUT1; RBBP2H1A; RBP2-H1", "protein_names_uniprotkb": "Lysine-specific demethylase 5B; 1.14.11.67; CT31; Cancer/testis antigen 31; Histone demethylase JARID1B; Jumonji/ARID domain-containing protein 1B; PLU-1; RBP2-H1; Retinoblastoma-binding protein 2 homolog 1; [histone H3]-trimethyl-L-lysine(4) demethylase 5B", "protein_names_refseq": "[histone H3]-trimethyl-L-lysine(4) demethylase 5B; cancer/testis antigen 31; histone demethylase JARID1B; jumonji, AT rich interactive domain 1B; jumonji/ARID domain-containing protein 1B; lysine (K)-specific demethylase 5B; lysine-specific demethylase 5B isoform 1; protein phosphatase 1, regulatory subunit 98; putative DNA/chromatin binding motif; retinoblastoma-binding protein 2 homolog 1; retinoblastoma-binding protein 2, homolog 1A", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041); syndromic X-linked intellectual disability Claes-Jensen type (Disease Ontology:DOID:0060809); autosomal recessive intellectual developmental disorder 65 (Disease Ontology:DOID:0081226); prostate cancer (Disease Ontology:DOID:10283); intellectual disability (Disease Ontology:DOID:1059); urinary bladder cancer (Disease Ontology:DOID:11054); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); high grade glioma (Disease Ontology:DOID:3070); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); uveal melanoma (Disease Ontology:DOID:6039)", "pathway": " (hsa:10765); (R-HSA-3214842); (R-HSA-8866911); (R-HSA-9821002)", "pathway_count": 4, "publication_count": 142, "publication_id_list": "10336460;10616211;10878660;11237011;12237901;12657635;15620353;15803180;16362057;16603237;16603238;16645588;16732292;16732293;16738407;17081983;17310255;17311883;17320160;17320161;17320163;17351631;17363312;17373667;17713478;17851529;17947579;18003914;18048344;18669648;19502796;19727073;19798054;19843542;20023638;20068231;20084082;20129925;20208542;20457893;20622853;20622854;21084835;21532585;22371483;22420752;22615488;22869377;23186163;23481700;23783831;24715725;24952722;25218447;25418920;25576301;25645385;25755297;25880248;26154972;26375851;26645689;26741168;26811146;26929215;26992070;27214403;27600516;27846572;27862975;27920218;28218747;28228285;28262558;28832583;28834231;28904123;29242379;29276005;29331515;29393594;29437277;29476019;29493099;29508533;29557506;29563586;29632046;29632711;29786170;29789417;30315122;30379171;30409806;30429286;30524438;30779550;31092671;31776402;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34932366;35051231;35254053;35314832;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38842683;38880187;39202393;39329209;8988173", "class_list": "", "function": "A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Publication Status: Online-Only, [RefSeq, PubMed]; AUP1 transcriptionally activated by KDM5B reprograms lipid metabolism to promote the malignant progression of cervical cancer., [RefSeq, PubMed]; ETS homologous factor, controlled by lysine-specific demethylase 5B, suppresses clear cell renal cell carcinoma by inducing Filamin-B., [RefSeq, PubMed]; Histone demethylase that demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code (PubMed:24952722, PubMed:27214403, PubMed:28262558). Does not demethylate histone H3 'Lys-9' or H3 'Lys-27'. Demethylates trimethylated, dimethylated and monomethylated H3 'Lys-4'. Acts as a transcriptional corepressor for FOXG1B and PAX9. Favors the proliferation of breast cancer cells by repressing tumor suppressor genes such as BRCA1 and HOXA5 (PubMed:24952722). In contrast, may act as a tumor suppressor for melanoma. Represses the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock component PER2 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; JARID1B was identified as a demethylase capable of removing three methyl groups from histone H3 lysine 4 and up-regulated in prostate cancer., [RefSeq, PubMed]; LncRNA HOXC-AS3 accelerates malignant proliferation of cervical cancer cells via stabilizing KDM5B. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that the PLU-1 protein may belong to the class of testis/cancer antigens, [RefSeq, PubMed]; This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate 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": 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": 20, "reported_glycation": 0, "reported_snv": 33, "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": "O95811;Q15752;Q9Y3Q5", "ec_number_list": [ { "id": "1.14.11.67", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.67", "type": "external" } ], "go_molecular_function": "GO:0034647 histone H3K4me/H3K4me2/H3K4me3 demethylase activity;GO:0032453 histone H3K4 demethylase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9UGL1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB75-1", "uniprot_id": [ { "id": "PIDD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB75", "type": "external" } ], "mass": 99712.0, "length": 910, "protein_name": "p53-induced death domain-containing protein 1", "gene_name": "PIDD1", "organism": "Human", "refseq_name": "p53-induced death domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_665893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665893", "type": "external" } ], "gene_names_uniprotkb": "PIDD1; LRDD; PIDD", "gene_names_refseq": "LRDD; MRT75; PIDD1; PIDD; altPIDD1", "protein_names_uniprotkb": "p53-induced death domain-containing protein 1; 3.4.21.-; Leucine-rich repeat and death domain-containing protein", "protein_names_refseq": "leucine-rich repeat and death domain-containing protein; leucine-rich repeats and death domain containing; p53-induced death domain-containing protein 1 isoform 1; p53-induced death domain-containing protein 1; p53-induced protein with a death domain", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 75 (Disease Ontology:DOID:0081234)", "pathway": " (hsa:55367); (R-HSA-6803207)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10393175;10825539;10973264;11237011;11278253;11390368;11559530;11717445;12089322;12198154;1373520;14688482;15073321;15580302;16135520;16183742;16360037;16652156;17159900;17284521;17289572;19664995;20303873;22854598;23481700;23703390;25528640;25892735;28397838;29242379;29302074;29557506;29632046;29769354;30620550;31154438;31217245;31530632;31844290;32387766;33414379;33717175;33912179;33968037;34163010;34509645;35051231;36689811;37530438;39532532;8242741", "class_list": "", "function": "Activation of caspase-2 occurs in a complex that contains PIDD, whose expression is induced by p53, and RAIDD; increased PIDD expression resulted in spontaneous activation of caspase-2 and sensitization to apoptosis by genotoxic stimuli, [RefSeq, PubMed]; Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the DNA damage/stress response pathway that functions downstream of p53/TP53 and can either promote cell survival or apoptosis (PubMed:10973264, PubMed:15073321, PubMed:16360037, PubMed:17159900). Associated with CRADD and the CASP2 caspase, it forms the PIDDosome a complex that activates CASP2 and triggers apoptosis (PubMed:15073321, PubMed:17159900). Associated with IKBKG and RIPK1, it enhances sumoylation and ubiquitination of IKBKG which is important for activation of the transcription factor NF-kappa-B (PubMed:16360037, PubMed:17159900)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Extra centrosomes induce PIDD1-mediated inflammation and immunosurveillance., [RefSeq, PubMed]; Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD., [RefSeq, PubMed]; PIDD plays a critical role in DNA-damage-induced NF-kappaB activation, controlling the balance between life and death upon DNA damage., [RefSeq, PubMed]; Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features., [RefSeq, PubMed]; The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 22, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q59FD1;Q59H10;Q59HC7;Q7Z4P8;Q8NC89;Q8NDL2;Q96C25;Q9NRE6", "ec_number_list": [ { "id": "3.4.22.55", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.55", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0005123 death receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9HB75-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75807-1", "uniprot_id": [ { "id": "PR15A_HUMAN", "url": "https://www.uniprot.org/uniprot/O75807", "type": "external" } ], "mass": 73478.0, "length": 674, "protein_name": "Protein phosphatase 1 regulatory subunit 15A", "gene_name": "PPP1R15A", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 15A", "refseq_ac": [ { "id": "NP_055145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055145", "type": "external" } ], "gene_names_uniprotkb": "PPP1R15A; GADD34", "gene_names_refseq": "GADD34; PPP1R15A", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 15A; Growth arrest and DNA damage-inducible protein GADD34; Myeloid differentiation primary response protein MyD116 homolog", "protein_names_refseq": "growth arrest and DNA damage-inducible protein GADD34; growth arrest and DNA-damage-inducible 34; myeloid differentiation primary response protein MyD116 homolog; protein phosphatase 1 regulatory subunit 15A; protein phosphatase 1, regulatory (inhibitor) subunit 15A", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); thalassemia (Disease Ontology:DOID:10241); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316)", "pathway": " (hsa:23645); (R-HSA-2173788); (R-HSA-9648895)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10490642;10519551;10757800;10982836;11158580;11163210;11163539;11237011;11241327;11278251;11517336;11564868;12016208;12114539;12151385;12519765;12556489;12724406;14630918;14635196;14701756;14718519;15496141;15705855;15781469;16027725;16061177;17140605;17267404;17287340;17726049;18055463;19131336;19758997;20061380;20129061;20423929;20937913;21518769;22045334;22344298;23186163;23481700;23876217;24092754;24714562;24715725;25645385;25931127;26095357;26154972;26375851;26728094;26742780;27846572;27862975;27920218;28814160;28832583;29242379;29393594;29508533;29557506;29632711;30833945;31092671;31154438;31778897;31844290;31848261;31937595;32157095;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34171305;34211107;34847777;34985336;35051231;35494241;35580925;35705054;36010968;37938771;38139150;38365764;38602876;8139541;9153226;9215638;9335507;9856985", "class_list": "", "function": "(Microbial infection) Promotes enterovirus 71 replication by mediating the internal ribosome entry site (IRES) activity of viral 5'-UTR., [UniProtKB, PubMed]; Enterovirus 71 Activates GADD34 via Precursor 3CD to Promote IRES-Mediated Viral Translation., [RefSeq, PubMed]; GADD34 translation is regulated by a unique 5'UTR uORF mechanism to ensure proper GADD34 expression during eIF2alpha phosphorylation, [RefSeq, PubMed]; Protein phosphatase 1 regulatory subunit 15 A promotes translation initiation and induces G2M phase arrest during cuproptosis in cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Recruits the serine/threonine-protein phosphatase PPP1CA to prevents excessive phosphorylation of the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress (PubMed:26095357, PubMed:26742780). Down-regulates the TGF-beta signaling pathway by promoting dephosphorylation of TGFB1 by PP1 (PubMed:14718519). May promote apoptosis by inducing p53/TP53 phosphorylation on 'Ser-15' (PubMed:14635196). Plays an essential role in autophagy by tuning translation during starvation, thus enabling lysosomal biogenesis and a sustained autophagic flux (PubMed:32978159). Also acts a viral restriction factor by attenuating HIV-1 replication (PubMed:31778897). Mechanistically, mediates the inhibition of HIV-1 TAR RNA-mediated translation (PubMed:31778897)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Substrate recognition determinants of human eIF2alpha phosphatases., [RefSeq, PubMed]; The PPP1R15 Family of eIF2-alpha Phosphatase Targeting Subunits (GADD34 and CReP). Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]., [RefSeq]; Turnover of PPP1R15A mRNA encoding GADD34 controls responsiveness and adaptation to cellular stress., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 9, "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": "B4DKQ3;Q6IA96;Q9NVU6", "ec_number_list": [], "go_molecular_function": "GO:0071074 eukaryotic initiation factor eIF2 binding;GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0019888 protein phosphatase regulator activity;GO:0008157 protein phosphatase 1 binding", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0032058 positive regulation of translational initiation in response to stress;GO:0006915 apoptotic process;GO:0006974 DNA damage response;GO:0006446 regulation of translational initiation;GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "O75807-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62937-1", "uniprot_id": [ { "id": "PPIA_HUMAN", "url": "https://www.uniprot.org/uniprot/P62937", "type": "external" } ], "mass": 18012.0, "length": 165, "protein_name": "Peptidyl-prolyl cis-trans isomerase A", "gene_name": "PPIA", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase A isoform 2", "refseq_ac": [ { "id": "NP_001287910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287910", "type": "external" } ], "gene_names_uniprotkb": "PPIA; CYPA", "gene_names_refseq": "CYPA; CYPH; HEL-S-69p; PPIA", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase A; 5.2.1.8; Cyclophilin A; Cyclosporin A-binding protein; PPIase A; Rotamase A", "protein_names_refseq": "PPIase A; T cell cyclophilin; cyclosporin A-binding protein; epididymis secretory sperm binding protein Li 69p; peptidyl-prolyl cis-trans isomerase A isoform 2; peptidyl-prolyl cis-trans isomerase A; peptidylprolyl isomerase A (cyclophilin A); rotamase A", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815); Bell's palsy (Disease Ontology:DOID:12506); aggressive periodontitis (Disease Ontology:DOID:1474); epilepsy (Disease Ontology:DOID:1826); cholangiocarcinoma (Disease Ontology:DOID:4947); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); nasopharynx carcinoma (Disease Ontology:DOID:9261)", "pathway": " (hsa:5478); (R-HSA-114608); (R-HSA-162585); (R-HSA-162588); (R-HSA-162589); (R-HSA-162592); (R-HSA-162594); (R-HSA-164516); (R-HSA-164525); (R-HSA-173107); (R-HSA-175474); (R-HSA-180689); (R-HSA-2025928); (R-HSA-210991); (R-HSA-6798695); (R-HSA-8950505); (R-HSA-9692916)", "pathway_count": 17, "publication_count": 305, "publication_id_list": "10.1101/2023.09.13.557529;10413516;10497202;10504731;10723025;10860980;10880960;10881997;10921872;10954531;10956669;11030334;11035788;11038187;11231878;11237011;11264352;11353871;11423440;11591141;11719518;11926830;11943775;12218175;12357034;12558975;12665801;12773651;12808465;1281479;1370087;1435334;1438243;14630798;14654843;14707126;14978097;15098018;15130913;15183342;15208624;15297306;15473846;15479846;15504864;15542682;1560526;15688292;15845542;15901826;15946952;16038020;16175173;16260747;16284180;16291214;16292356;1629954;16409631;16527992;1693920;1702425;17035307;1715244;17270291;17377532;17412287;17596301;17761676;17996943;18802091;1896075;19054851;19207730;19380580;19398035;19439089;1946361;19527882;19608861;19615748;2001362;20068231;20147391;20305658;20364129;20676357;20934997;21245143;21593166;2171144;21740066;2191297;2197089;22046132;22223895;22253733;22312431;22347431;22424782;2247146;22706990;22762019;23180369;23186163;23266279;23301498;23305486;23483519;2364015;23640497;23650620;23783831;2428879;24366607;2441877;2445721;24509444;24622840;24715725;24741339;24854014;25135833;2539592;2541505;25489052;25502872;25576301;25645385;25678563;25764917;25802875;25907116;26095851;26154972;26320399;26375851;26378163;26640223;26758079;26992070;27164085;27203180;27600516;27846572;2788443;27920218;28148787;28218747;28228285;2846352;28467828;28489076;28510447;28514659;28649982;28832583;28834231;28855257;28871256;28904123;29093164;29242379;29294448;29317506;29351928;29393594;29485866;29508533;29551599;29557506;29632046;29632711;29769354;29786170;29930882;3001934;30185776;30192525;30294901;3032450;30328013;30410026;30429286;30524438;30941482;31034780;31063815;31217245;31231549;31530632;31611695;31844290;31848261;32119511;32157095;32164970;32350084;32357974;32387766;32488085;32502341;32728199;32897882;32938616;3297675;32983136;33013867;33060197;33091337;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;3629244;37074911;37217939;37938771;38665916;39433793;40596516;6083454;6096719;6457647;7510065;7511167;7535765;7538176;7657645;7657784;7681062;7687060;7687306;7745678;7745750;8076606;8263916;8373393;8421500;8421501;8467233;8474172;8497049;8500173;8513493;8576111;8612573;8631904;8649511;8652511;8658171;8674119;8684469;8692836;8799126;8883604;8906796;9038339;9094670;9106655;9108481;9166405;9188609;9299338;9311827;9312192;9360995;9385632;9499113;9546217;9573233;9632396;9641677;9721247;9727000;9769216;9786870;9860958;9989503", "class_list": "", "function": "(Microbial infection) May act as a mediator between human SARS coronavirus nucleoprotein and BSG/CD147 in the process of invasion of host cells by the virus (PubMed:15688292)., [UniProtKB, PubMed]; (Microbial infection) May act as a receptor for M.genitalium adhesin protein P140 (also called MgPa) (PubMed:29551599, PubMed:33013867)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Stimulates RNA-binding ability of HCV NS5A in a peptidyl-prolyl cis-trans isomerase activity-dependent manner., [UniProtKB, PubMed]; Catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:2001362, PubMed:20676357, PubMed:21245143, PubMed:21593166, PubMed:25678563). Exerts a strong chemotactic effect on leukocytes partly through activation of one of its membrane receptors BSG/CD147, initiating a signaling cascade that culminates in MAPK/ERK activation (PubMed:11943775, PubMed:21245143). Activates endothelial cells (ECs) in a pro-inflammatory manner by stimulating activation of NF-kappa-B and ERK, JNK and p38 MAP-kinases and by inducing expression of adhesion molecules including SELE and VCAM1 (PubMed:15130913). Induces apoptosis in ECs by promoting the FOXO1-dependent expression of CCL2 and BCL2L11 which are involved in EC chemotaxis and apoptosis (PubMed:31063815). In response to oxidative stress, initiates proapoptotic and antiapoptotic signaling in ECs via activation of NF-kappa-B and AKT1 and up-regulation of antiapoptotic protein BCL2 (PubMed:23180369). Negatively regulates MAP3K5/ASK1 kinase activity, autophosphorylation and oxidative stress-induced apoptosis mediated by MAP3K5/ASK1 (PubMed:26095851). Necessary for the assembly of TARDBP in heterogeneous nuclear ribonucleoprotein (hnRNP) complexes and regulates TARDBP binding to RNA UG repeats and TARDBP-dependent expression of HDAC6, ATG7 and VCP which are involved in clearance of protein aggregates (PubMed:25678563). Plays an important role in platelet activation and aggregation (By similarity). Regulates calcium mobilization and integrin ITGA2B:ITGB3 bidirectional signaling via increased ROS production as well as by facilitating the interaction between integrin and the cell cytoskeleton (By similarity). Binds heparan sulfate glycosaminoglycans (PubMed:11943775). Inhibits replication of influenza A virus (IAV) (PubMed:19207730). Inhibits ITCH/AIP4-mediated ubiquitination of matrix protein 1 (M1) of IAV by impairing the interaction of ITCH/AIP4 with M1, followed by the suppression of the nuclear export of M1, and finally reduction of the replication of IAV (PubMed:22347431, PubMed:30328013)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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, UniProtKB]; Peptidylprolyl isomerase A guides SENP5/GAU1 DNA-lncRNA triplex generation for driving tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The peptide FGPDLPAGD showed inhibition of the isomerase reaction and NMR chemical shift mapping experiments highlight the cyclophilin A interaction epitope, [RefSeq, PubMed]; This gene encodes 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. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K220;P05092;Q3KQW3;Q567Q0;Q6IBU5;Q96IX3;Q9BRU4;Q9BTY9;Q9UC61", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005178 integrin binding;GO:0051082 unfolded protein binding;GO:1904399 heparan sulfate binding;GO:0016018 cyclosporin A binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:2001233 regulation of apoptotic signaling pathway;GO:0001934 positive regulation of protein phosphorylation;GO:0043410 positive regulation of MAPK cascade;GO:0001933 negative regulation of protein phosphorylation;GO:0006469 negative regulation of protein kinase activity", "synthesized_glycan_count": 0, "hit_score": 31.7, "record_id": "P62937-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35968-1", "uniprot_id": [ { "id": "VGFR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P35968", "type": "external" } ], "mass": 151527.0, "length": 1356, "protein_name": "Vascular endothelial growth factor receptor 2", "gene_name": "KDR", "organism": "Human", "refseq_name": "vascular endothelial growth factor receptor 2 precursor", "refseq_ac": [ { "id": "NP_002244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002244", "type": "external" } ], "gene_names_uniprotkb": "KDR; FLK1; VEGFR2", "gene_names_refseq": "CD309; FLK1; KDR; VEGFR2; VEGFR", "protein_names_uniprotkb": "Vascular endothelial growth factor receptor 2; 2.7.10.1; FLK-1; Fetal liver kinase 1; KDR; Kinase insert domain receptor; Protein-tyrosine kinase receptor flk-1; VEGFR-2", "protein_names_refseq": "fetal liver kinase-1; kinase insert domain receptor (a type III receptor tyrosine kinase); protein-tyrosine kinase receptor Flk-1; soluble VEGFR2; tyrosine kinase growth factor receptor; vascular endothelial growth factor receptor 2 precursor; vascular endothelial growth factor receptor 2", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); salivary gland carcinoma (Disease Ontology:DOID:0050904); stroke (Disease Ontology:DOID:0051061); brain glioma (Disease Ontology:DOID:0060108); colitis (Disease Ontology:DOID:0060180); cerebral cavernous malformation (Disease Ontology:DOID:0060669); arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); urinary bladder cancer (Disease Ontology:DOID:11054); prostatic hypertrophy (Disease Ontology:DOID:11132); sarcoma (Disease Ontology:DOID:1115); retinopathy of prematurity (Disease Ontology:DOID:13025); adhesions of uterus (Disease Ontology:DOID:13812); lymphangioma (Disease Ontology:DOID:1475); limited scleroderma (Disease Ontology:DOID:1577); diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); cystitis (Disease Ontology:DOID:1679); pancreatic cancer (Disease Ontology:DOID:1793); impotence (Disease Ontology:DOID:1875); melanoma (Disease Ontology:DOID:1909); brain ischemia (Disease Ontology:DOID:2316); arteriosclerosis (Disease Ontology:DOID:2349); prostate adenocarcinoma (Disease Ontology:DOID:2526); hemangiopericytoma (Disease Ontology:DOID:264); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); endometriosis (Disease Ontology:DOID:289); allergic contact dermatitis (Disease Ontology:DOID:3042); carcinoma (Disease Ontology:DOID:305); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); inverted papilloma (Disease Ontology:DOID:3179); neurilemmoma (Disease Ontology:DOID:3192); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); breast carcinoma (Disease Ontology:DOID:3459); lung non-small cell carcinoma (Disease Ontology:DOID:3908); thyroid gland carcinoma (Disease Ontology:DOID:3963); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); macular retinal edema (Disease Ontology:DOID:4449); breast angiosarcoma (Disease Ontology:DOID:4511); pancreatic carcinoma (Disease Ontology:DOID:4905); esophagus adenocarcinoma (Disease Ontology:DOID:4914); liver cirrhosis (Disease Ontology:DOID:5082); ovarian hyperstimulation syndrome (Disease Ontology:DOID:5425); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); uveal melanoma (Disease Ontology:DOID:6039); hepatocellular carcinoma (Disease Ontology:DOID:684); retinal telangiectasia (Disease Ontology:DOID:7736); ulcerative colitis (Disease Ontology:DOID:8577); decubitus ulcer (Disease Ontology:DOID:8717); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); capillary infantile hemangioma (MONDO:MONDO:0011191)", "pathway": " (hsa:3791); (R-HSA-194306); (R-HSA-195399); (R-HSA-216083); (R-HSA-4420097); (R-HSA-5218921); (R-HSA-9673768); (R-HSA-9856530)", "pathway_count": 8, "publication_count": 368, "publication_id_list": "10037737;10075701;10102632;10207622;10209034;10366422;10368301;10376603;10395673;10421574;10438935;10506722;10543983;10579917;10590123;10593924;10600473;10605720;10639123;10640428;10649434;10673366;10677529;10692392;10713152;10744763;10749680;10764742;10802064;10811134;10812249;10842181;10982388;11004490;11007481;11158588;11278319;11278486;11387210;11518510;11532940;11572855;11600407;11695992;11696015;11713259;11756651;11807987;11853546;11948691;11968001;11980922;11986311;12023952;12134158;12176338;12214271;12215529;12391143;12391145;12464388;12496264;12585966;12598525;12649282;12660731;12682293;12724311;12771128;12776187;12807887;12810700;12820653;12840507;12871269;12881528;1417831;14532121;14724572;14991896;15026417;15215251;15240572;15247219;15304325;15308668;15330449;15345499;15383545;15688067;15695828;15713743;15718470;15837294;15879121;1588291;15899827;15962004;16002701;16051604;16239428;16336962;16391297;1656371;16690743;16731529;16754661;16760434;16763549;16780920;16835467;16861033;16933105;16959974;16966330;17002866;17004325;17030947;17110601;17199126;17237347;17253678;17293873;17303569;17339034;17344846;17658244;17686471;17968485;18377662;18529047;18593464;18662404;18680722;18710921;18710925;18775695;18931684;18936167;19015446;19020623;19033661;19136612;19230644;19240722;19267251;19367276;19372376;19372461;19502598;19526984;19664994;19668192;19723632;19761875;19834490;19923922;20033473;20080685;20084057;2010551;20145116;20151671;20164854;20176926;20179233;20224550;20462514;20657775;20658524;20705068;20705758;20807769;20843378;20889717;21047416;21406692;21445309;21505453;21533119;21539813;21653826;21711246;21751212;21752276;21779435;21827946;21853101;21858086;21893193;22016776;22174934;22304225;22327215;22356893;22363548;22382862;22393126;22539938;22689825;22763125;22884367;23059825;23090970;23139789;23199280;23216836;23286511;23374253;23382918;23383198;23529610;23536763;23583373;23731702;23792958;23905676;24052076;24190977;24225480;24312323;24358167;24505433;24508097;24612787;24648957;24786599;2479986;24965046;25102966;25158262;25187647;25298192;25354586;25393739;25415226;25515662;25576301;25645385;25679062;25698653;25825981;25874616;25910937;25967108;26059764;26067165;26179332;26378810;26459808;26655500;26804176;27052508;27170215;27438154;27566546;27589831;27612418;27657036;27713170;27783849;27797339;27846572;27862975;27882935;28010895;28101054;28178265;28392095;28572685;28693139;28695371;28817576;28869531;28963481;29193887;29432282;29450744;29557506;29628979;29743977;29765561;29786170;29790264;29964354;30096614;30282966;30429286;30459171;30518776;30791546;30800223;30910851;31042676;31060904;31154438;31205027;31527750;31848261;32157095;32184452;32274611;32296767;32488085;32681389;32995772;33076322;33787218;33846818;33968037;33972548;34499618;35027734;35051231;35251023;35254053;35580925;35605916;35767310;36089631;37074911;37938771;38925828;39000466;39195235;39273385;7505120;7509446;7525578;7541634;7542249;7559454;7559467;7685013;7824266;7876172;7929439;8118028;8344274;8560266;8617204;8617235;8637916;8700127;8700872;8798654;8838667;8910476;8962143;8986718;9099726;9160888;9182576;9207067;9218480;9251239;9393975;9398617;9435229;9443892;9472046;9565552;9620797;9722576;9804796;9837777;9858236;9889098", "class_list": "", "function": "Includes the study of a polymorphic upstream ORF in this gene, and shows that it functions to reduce protein levels by ~50%., [RefSeq, PubMed]; Lack of VEGFA/KDR Signaling in Conventional Renal Cell Carcinoma Explains the Low Efficacy of Target Therapy and Frequent Adverse Events. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation in the Kinase Domain Alters the VEGFR2 Membrane Dynamics. Publication Status: Online-Only, [RefSeq, PubMed]; The KDR Gene rs2071559 and the VEGF Gene rs6921438 May Be Associated with Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; Tumor Infiltrating Effector Regulatory T Cells Express VEGF Receptor 2 in Patients With Colorectal Cancer., [RefSeq, PubMed]; Tyrosine-protein kinase that acts as a cell-surface receptor for VEGFA, VEGFC and VEGFD. Plays an essential role in the regulation of angiogenesis, vascular development, vascular permeability, and embryonic hematopoiesis. Promotes proliferation, survival, migration and differentiation of endothelial cells. Promotes reorganization of the actin cytoskeleton. Isoforms lacking a transmembrane domain, such as isoform 2 and isoform 3, may function as decoy receptors for VEGFA, VEGFC and/or VEGFD. Isoform 2 plays an important role as negative regulator of VEGFA- and VEGFC-mediated lymphangiogenesis by limiting the amount of free VEGFA and/or VEGFC and preventing their binding to FLT4. Modulates FLT1 and FLT4 signaling by forming heterodimers. Binding of vascular growth factors to isoform 1 leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate and the activation of protein kinase C. Mediates activation of MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Mediates phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, reorganization of the actin cytoskeleton and activation of PTK2/FAK1. Required for VEGFA-mediated induction of NOS2 and NOS3, leading to the production of the signaling molecule nitric oxide (NO) by endothelial cells. Phosphorylates PLCG1. Promotes phosphorylation of FYN, NCK1, NOS3, PIK3R1, PTK2/FAK1 and SRC., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]., [RefSeq]", "predicted_glycosites": 13, "predicted_n_glycosites": 13, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 166, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 64, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "A2RRS0;B5A925;C5IFA0;O60723;Q14178", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0005178 integrin binding;GO:0005524 ATP binding;GO:0015026 coreceptor activity;GO:0019838 growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005768 endosome;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0035162 embryonic hemopoiesis;GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0001934 positive regulation of protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 38.5, "record_id": "P35968-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15109-1", "uniprot_id": [ { "id": "RAGE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15109", "type": "external" } ], "mass": 42803.0, "length": 404, "protein_name": "Advanced glycation end product-specific receptor", "gene_name": "AGER", "organism": "Human", "refseq_name": "advanced glycosylation end product-specific receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_001127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127", "type": "external" } ], "gene_names_uniprotkb": "AGER; RAGE", "gene_names_refseq": "AGER; RAGE; SCARJ1; sRAGE", "protein_names_uniprotkb": "Advanced glycation end product-specific receptor; Advanced glycosylation end product-specific receptor; Receptor for advanced glycation end products; Receptor for advanced glycosylation end products", "protein_names_refseq": "advanced glycosylation end product-specific receptor isoform 1 precursor; receptor for advanced glycation end-products", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); chorioamnionitis (Disease Ontology:DOID:0050697); diabetic encephalopathy (Disease Ontology:DOID:0050850); renal fibrosis (Disease Ontology:DOID:0050855); stroke (Disease Ontology:DOID:0051061); chronic pancreatitis (Disease Ontology:DOID:0051065); atrial fibrillation (Disease Ontology:DOID:0060224); alcohol-associated liver disease (Disease Ontology:DOID:0070658); lupus nephritis (Disease Ontology:DOID:0080162); colorectal carcinoma (Disease Ontology:DOID:0080199); mild cognitive impairment (Disease Ontology:DOID:0080832); prostate cancer (Disease Ontology:DOID:10283); schizotypal personality disorder (Disease Ontology:DOID:10646); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); intracranial aneurysm (Disease Ontology:DOID:10941); adult respiratory distress syndrome (Disease Ontology:DOID:11394); osteoporosis (Disease Ontology:DOID:11476); morbid obesity (Disease Ontology:DOID:11981); diabetic polyneuropathy (Disease Ontology:DOID:12785); cardiovascular system disease (Disease Ontology:DOID:1287); thromboangiitis obliterans (Disease Ontology:DOID:12918); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); Kawasaki disease (Disease Ontology:DOID:13378); aspergillosis (Disease Ontology:DOID:13564); cystic fibrosis (Disease Ontology:DOID:1485); alcohol use disorder (Disease Ontology:DOID:1574); pancreatic cancer (Disease Ontology:DOID:1793); impotence (Disease Ontology:DOID:1875); optic nerve disease (Disease Ontology:DOID:1891); melanoma (Disease Ontology:DOID:1909); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); Takayasu's arteritis (Disease Ontology:DOID:2508); asthma (Disease Ontology:DOID:2841); invasive ductal carcinoma (Disease Ontology:DOID:3008); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); uremia (Disease Ontology:DOID:4676); liver cirrhosis (Disease Ontology:DOID:5082); aortic disease (Disease Ontology:DOID:520); schizophrenia (Disease Ontology:DOID:5419); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); gastrointestinal system disease (Disease Ontology:DOID:77); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); periodontitis (Disease Ontology:DOID:824); osteoarthritis (Disease Ontology:DOID:8398); Cor pulmonale (Disease Ontology:DOID:8515); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); vascular skin disease (Disease Ontology:DOID:9540); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:177); (R-HSA-445989); (R-HSA-879415); (R-HSA-933542)", "pathway_count": 4, "publication_count": 62, "publication_id_list": "10531386;10723127;11237011;11375354;12221085;12470955;12495433;12935895;1378843;14656967;15145317;16056267;1651976;17047224;17714874;17728323;18089847;18431028;18462684;18519797;19386136;19666475;19906677;20943659;20947022;21511948;21559403;21565706;21829704;22509345;23284645;24081950;24248547;24260107;24714562;25401185;26118699;27572515;27701768;27862975;28515150;28977635;29557506;30612271;32157095;33119615;33436632;33918759;34743181;35051231;35580925;35974093;36807739;38460892;38626647;38673968;38904338;7835890;8529130;9008162;9689078;9865693", "class_list": "", "function": "Association Between the G82S Polymorphism of the Receptor Gene for Advanced Glycation End-products and Soluble Serum Levels RAGE with Diabetic Nephropathy in the White (Asian) Race., [RefSeq, PubMed]; Cell surface pattern recognition receptor that senses endogenous stress signals with a broad ligand repertoire including advanced glycation end products, S100 proteins, high-mobility group box 1 protein/HMGB1, amyloid beta/APP oligomers, nucleic acids, histones, phospholipids and glycosaminoglycans (PubMed:27572515, PubMed:28515150, PubMed:34743181, PubMed:35974093, PubMed:24081950). Advanced glycation end products (AGEs) are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes (PubMed:21565706). These ligands accumulate at inflammatory sites during the pathogenesis of various diseases including diabetes, vascular complications, neurodegenerative disorders and cancers, and RAGE transduces their binding into pro-inflammatory responses. Upon ligand binding, uses TIRAP and MYD88 as adapters to transduce the signal ultimately leading to the induction of inflammatory cytokines IL6, IL8 and TNFalpha through activation of NF-kappa-B (PubMed:21829704, PubMed:33436632). Interaction with S100A12 on endothelium, mononuclear phagocytes, and lymphocytes triggers cellular activation, with generation of key pro-inflammatory mediators (PubMed:19386136). Interaction with S100B after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Contributes to the translocation of amyloid-beta peptide (ABPP) across the cell membrane from the extracellular to the intracellular space in cortical neurons (PubMed:19906677). ABPP-initiated RAGE signaling, especially stimulation of p38 mitogen-activated protein kinase (MAPK), has the capacity to drive a transport system delivering ABPP as a complex with RAGE to the intraneuronal space. Participates in endothelial albumin transcytosis together with HMGB1 through the RAGE/SRC/Caveolin-1 pathway, leading to endothelial hyperpermeability (PubMed:27572515). Mediates the loading of HMGB1 in extracellular vesicles (EVs) that shuttle HMGB1 to hepatocytes by transferrin-mediated endocytosis and subsequently promote hepatocyte pyroptosis by activating the NLRP3 inflammasome (PubMed:34743181). Binds to DNA and promotes extracellular hypomethylated DNA (CpG DNA) uptake by cells via the endosomal route to activate inflammatory responses (PubMed:24081950, PubMed:28515150). Mediates phagocytosis by non-professional phagocytes (NPP) and this is enhanced by binding to ligands including RNA, DNA, HMGB1 and histones (PubMed:35974093). Promotes NPP-mediated phagocytosis of Saccharomyces cerevisiae spores by binding to RNA attached to the spore wall (PubMed:35974093). Also promotes NPP-mediated phagocytosis of apoptotic cells (PubMed:35974093). Following DNA damage, recruited to DNA double-strand break sites where it colocalizes with the MRN repair complex via interaction with double-strand break repair protein MRE11 (By similarity). Enhances the endonuclease activity of MRE11, promoting the end resection of damaged DNA (By similarity). Promotes DNA damage repair in trophoblasts which enhances trophoblast invasion and contributes to placental development and maintenance (PubMed:33918759). Protects cells from DNA replication stress by localizing to damaged replication forks where it stabilizes the MCM2-7 complex and promotes faithful progression of the replication fork (PubMed:36807739). Mediates the production of reactive oxygen species (ROS) in human endothelial cells (PubMed:25401185)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Insight into the Interplay of Gd-IgA1, HMGB1, RAGE and PCDH1 in IgA Vasculitis (IgAV). Publication Status: Online-Only, [RefSeq, PubMed]; Low expression of endogenous secretory RAGE in the hippocampus would be associated with the development of Alzheimer's disease, [RefSeq, PubMed]; RAGE_v1 variant is the primary secreted soluble isoform of RAGE. identification of functional splice variants of RAGE underscores biological diversity of the RAGE gene & will aid in understanding of the gene in the normal & pathological state., [RefSeq, PubMed]; Targeting TNF-alpha-induced expression of TTR and RAGE in rheumatoid arthritis: Apigenin's mediated therapeutic approach., [RefSeq, PubMed]; The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimer's disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]., [RefSeq]; The critical role of RAGE in severe influenza infection: A target for control of inflammatory response in the disease., [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": 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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 72, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2BFI7;A6NKF0;A7Y2U9;B0V176;Q15279;Q3L1R4;Q3L1R5;Q3L1R6;Q3L1R7;Q3L1R8;Q3L1S0;Q86SN1;Q9H2X7;Q9Y3R3;V5R6A3", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0050785 advanced glycation end-product receptor activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005769 early endosome;GO:0005886 plasma membrane", "go_biological_process": "GO:1900744 regulation of p38MAPK cascade;GO:2001200 positive regulation of dendritic cell differentiation;GO:0032693 negative regulation of interleukin-10 production;GO:0001914 regulation of T cell mediated cytotoxicity;GO:2000514 regulation of CD4-positive, alpha-beta T cell activation", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q15109-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13682-1", "uniprot_id": [ { "id": "ZNF35_HUMAN", "url": "https://www.uniprot.org/uniprot/P13682", "type": "external" } ], "mass": 59089.0, "length": 527, "protein_name": "Zinc finger protein 35", "gene_name": "ZNF35", "organism": "Human", "refseq_name": "zinc finger protein 35", "refseq_ac": [ { "id": "NP_003411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003411", "type": "external" } ], "gene_names_uniprotkb": "ZNF35", "gene_names_refseq": "HF.10; HF10; ZNF35; Zfp105", "protein_names_uniprotkb": "Zinc finger protein 35; Zinc finger protein HF.10", "protein_names_refseq": "zinc finger protein 35 (clone HF.10); zinc finger protein 35; zinc finger protein HF.10", "tax_id": 9606, "disease": "", "pathway": " (hsa:7584)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;1572646;23481700;24714562;25576301;26728094;26992070;28228285;28834231;29393594;29557506;29786170;30315122;31844290;31848261;32502341;32983136;3380682;33981976;34185709;34561969;34932366;35051231;35705054;36010968", "class_list": "", "function": "May be involved in transcriptional regulation. Involved in cell differentiation and/or proliferation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBU6;Q53Y54;Q96D01", "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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0071300 cellular response to retinoic acid;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P13682-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05155-1", "uniprot_id": [ { "id": "IC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05155", "type": "external" } ], "mass": 55154.0, "length": 500, "protein_name": "Plasma protease C1 inhibitor", "gene_name": "SERPING1", "organism": "Human", "refseq_name": "plasma protease C1 inhibitor precursor", "refseq_ac": [ { "id": "NP_000053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000053", "type": "external" } ], "gene_names_uniprotkb": "SERPING1; C1IN; C1NH", "gene_names_refseq": "C1INH; C1IN; C1NH; HAE1; HAE2; SERPING1", "protein_names_uniprotkb": "Plasma protease C1 inhibitor; C1 Inh; C1 esterase inhibitor; C1-inhibiting factor; C1Inh; Serpin G1", "protein_names_refseq": "C1 esterase inhibitor; C1-inhibiting factor; C1-inhibitor; complement component 1 inhibitor; epididymis secretory sperm binding protein; plasma protease C1 inhibitor precursor; plasma protease C1 inhibitor; serine/cysteine proteinase inhibitor clade G member 1; serpin G1; serpin peptidase inhibitor clade G member 1; serpin peptidase inhibitor, clade G (C1 inhibitor), member 1", "tax_id": 9606, "disease": "familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); COVID-19 (Disease Ontology:DOID:0080600); hereditary angioedema type I (Disease Ontology:DOID:0080939); toxic shock syndrome (Disease Ontology:DOID:14115); hereditary angioedema (Disease Ontology:DOID:14735); angioedema (Disease Ontology:DOID:1558); glioblastoma (Disease Ontology:DOID:3068); cerebral infarction (Disease Ontology:DOID:3526); macular degeneration (Disease Ontology:DOID:4448); pancreatitis (Disease Ontology:DOID:4989); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:710); (R-HSA-114608); (R-HSA-9657689); (R-HSA-9769739); (R-HSA-977606); (R-HSA-9855719)", "pathway_count": 6, "publication_count": 210, "publication_id_list": "37268159;10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026158;10531307;1067618;10946292;11035113;11237011;11238108;11527969;11694537;11833835;11939578;12052963;12055245;12123444;12754519;12773530;12907439;1363816;1386357;1435334;1451784;14630798;14635117;14760718;15096536;15297306;16040958;16079145;16161994;16169853;1618828;16192651;16335952;16409206;16619025;16999828;17182573;17488724;17505110;17506785;17598008;17635713;1902833;19139490;19159218;19297154;1930190;19838169;20112406;2026152;2026621;20427285;21081667;2118657;21304106;2154751;21683246;21788512;21932952;22144186;22171320;22618708;2271516;22786881;22802338;2296585;22994404;23090970;23234360;23487775;23584533;23640497;2365061;23683607;2384594;24190977;2420889;24279413;24456027;24530628;24552232;24554904;2465906;2466593;2481448;2538457;2563376;25645385;25713144;2578463;2579948;25855704;26248961;26992070;27397612;27452731;27726376;27846572;27862975;28035807;29343682;293688;293746;29391424;29419409;29427759;29519898;29557506;2956252;29632711;29671580;2971659;29741879;29753808;29786170;29920929;301546;30237853;30398465;30429286;30459171;30484775;3089875;30918026;3099750;31262782;31439947;3178731;31844290;31848261;32125861;32157095;32350084;3267220;32938616;32983136;33091337;3393514;3458172;34725484;3488058;35051231;35251023;35580925;36951953;37074911;3744129;3756141;37620742;37716525;37726033;38182098;38254961;3848661;3863104;3877053;38877850;4098172;4178758;4703226;6203908;6214588;6219696;6222381;6230668;6238120;6323392;6334079;6416294;6454142;6457647;6604055;6607952;670886;6906228;702059;7391570;7499257;7512602;7542572;760802;761607;7690834;7691959;7749926;7814636;7852321;7883978;8144529;8172583;8345200;8467233;8495193;8495195;8529136;8618290;8639781;8755917;8786315;8798678;9038722;9218519;9459334;9469622;978134;9882449", "class_list": "", "function": "Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course, and Therapy., [RefSeq, PubMed]; Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian Randomization. Publication Status: Online-Only, [RefSeq, PubMed]; Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An Italian Survey., [RefSeq, PubMed]; Long term outcome of C1-esterase inhibitor deficiency. Review article, [RefSeq, PubMed]; Serine protease inhibitor, which acrs as a regulator of the classical complement pathway (PubMed:10946292, PubMed:11527969, PubMed:3458172, PubMed:6416294). Forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases (PubMed:10946292, PubMed:3458172, PubMed:6416294). May also regulate blood coagulation, fibrinolysis and the generation of kinins (PubMed:8495195). Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein (PubMed:8495195)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Serine protease inhibitor, which acrs as a regulator of the classical complement pathway. Forms a proteolytically inactive stoichiometric complex with the C1r or C1s proteases. May also regulate blood coagulation, fibrinolysis and the generation of kinins. Very efficient inhibitor of FXIIa. Inhibits chymotrypsin and kallikrein., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort., [RefSeq, PubMed]; This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 8, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 180, "disease_count": 12, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "A6NMU0;A8KAI9;B2R6L5;B4E1F0;B4E1H2;Q16304;Q547W3;Q59EI5;Q7Z455;Q96FE0;Q9UC49;Q9UCF9", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0001869 negative regulation of complement activation, lectin pathway;GO:0007596 blood coagulation;GO:0008015 blood circulation;GO:0042730 fibrinolysis", "synthesized_glycan_count": 0, "hit_score": 42.0, "record_id": "P05155-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01543-1", "uniprot_id": [ { "id": "FLI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01543", "type": "external" } ], "mass": 50982.0, "length": 452, "protein_name": "Friend leukemia integration 1 transcription factor", "gene_name": "FLI1", "organism": "Human", "refseq_name": "Friend leukemia integration 1 transcription factor isoform 2", "refseq_ac": [ { "id": "NP_001161153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161153", "type": "external" } ], "gene_names_uniprotkb": "FLI1", "gene_names_refseq": "BDPLT21; EWSR2; FLI-1; FLI1; SIC-1", "protein_names_uniprotkb": "Friend leukemia integration 1 transcription factor; Proto-oncogene Fli-1; Transcription factor ERGB", "protein_names_refseq": "Ewing sarcoma breakpoint region 2; Friend leukemia integration 1 transcription factor isoform 2; Friend leukemia virus integration 1; transcription factor ERGB", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); thrombocytopenia (Disease Ontology:DOID:1588); ovary epithelial cancer (Disease Ontology:DOID:2152); blood platelet disease (Disease Ontology:DOID:2218); transitional cell carcinoma (Disease Ontology:DOID:2671); endometriosis (Disease Ontology:DOID:289); Ewing sarcoma (Disease Ontology:DOID:3369); cervical adenocarcinoma (Disease Ontology:DOID:3702); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); pancreatitis (Disease Ontology:DOID:4989); bleeding disorder, platelet-type, 21 (MONDO:MONDO:0054577)", "pathway": " (hsa:2313); (R-HSA-9616222)", "pathway_count": 2, "publication_count": 117, "publication_id_list": "10233885;10330422;11237011;11242107;11340171;11369759;11564866;11684017;11867521;12242300;12702500;12869508;1394211;1445800;14517214;1522903;16751774;17063141;17287340;17562868;1765382;18776924;19158279;20661648;21321929;21471526;21993314;22371011;22474248;22591006;22829238;23001182;23481700;24058639;24100448;24379003;24584857;24715725;2524830;25418920;25576301;25707716;25784653;25880248;25892735;26154972;26316623;26992070;2721961;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28255014;28832583;28904123;29242379;29351928;29393594;29431622;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30524438;31154438;31217245;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33123756;33141586;33298915;33392160;33717175;33912179;33936100;34211107;34509645;34932366;35051231;35132862;35561310;35580925;36284347;37938771;38757516;38816360;38890442;39107790;7542907;7773776;7862113;8439553;8695841;8846917;9177240;9751743", "class_list": "", "function": "FLI-1-driven regulation of endothelial cells in human diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation. Publication Status: Online-Only, [RefSeq, PubMed]; FLI1 promotes IFN-gamma-induced kynurenine production to impair anti-tumor immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Inherited thrombocytopenia associated with a variant in the FLI1 binding site in the 5' UTR of ANKRD26., [RefSeq, PubMed]; Sequence-specific transcriptional activator (PubMed:24100448, PubMed:26316623, PubMed:28255014). Recognizes the DNA sequence 5'-C[CA]GGAAGT-3'., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 15, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B2R8H2;B4DFV4;B4DTC6;G3V183;Q14319;Q92480;Q9UE07", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;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:0045893 positive regulation of DNA-templated transcription;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q01543-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92466-1", "uniprot_id": [ { "id": "DDB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92466", "type": "external" } ], "mass": 47864.0, "length": 427, "protein_name": "DNA damage-binding protein 2", "gene_name": "DDB2", "organism": "Human", "refseq_name": "DNA damage-binding protein 2 isoform WT", "refseq_ac": [ { "id": "NP_000098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000098", "type": "external" } ], "gene_names_uniprotkb": "DDB2", "gene_names_refseq": "DDB2; DDBB; UV-DDB2; XPE", "protein_names_uniprotkb": "DNA damage-binding protein 2; DDB p48 subunit; DDBb; Damage-specific DNA-binding protein 2; UV-DDB 2; UV-damaged DNA-binding protein 2", "protein_names_refseq": "DDB p48 subunit; DNA damage-binding protein 2 isoform WT; DNA damage-binding protein 2; UV-damaged DNA-binding protein 2; damage-specific DNA binding protein 2, 48kDa; xeroderma pigmentosum group E protein", "tax_id": 9606, "disease": "xeroderma pigmentosum (Disease Ontology:DOID:0050427); myelodysplastic syndrome (Disease Ontology:DOID:0050908); autosomal dominant intellectual developmental disorder 42 (Disease Ontology:DOID:0070072); xeroderma pigmentosum group E (Disease Ontology:DOID:0110846); congestive heart failure (Disease Ontology:DOID:6000); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:1643); (R-HSA-5689880); (R-HSA-5696394); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-6796648); (R-HSA-8951664)", "pathway_count": 7, "publication_count": 331, "publication_id_list": "10391953;10444327;10526214;10535940;10597293;10734143;10777490;10777491;10811609;10878807;10882109;10973499;10982817;10984493;11007478;11069780;11141066;11237011;11259415;11278856;11279143;11292861;11292862;11350971;11454738;11511374;11566882;11585840;11673459;11705987;11733065;11923872;11961546;11971958;11988847;12080057;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12732143;12759363;12815074;12816948;12917689;12917691;12944386;14517266;14661020;14690597;14742321;14751237;14757770;15053880;15220921;15282312;15361859;15367669;15537541;15572695;15574592;15590680;15601839;15652483;15688063;15694336;15781865;15799966;15811629;15882621;15916963;15964821;16030353;16171779;16214042;16223728;16260596;16401342;16473935;16491090;16527807;16547496;16647857;16678110;16707496;16713579;16790436;16901786;16943200;16949367;16964240;16964248;17000769;17041588;17079684;17081101;17081983;17132228;17183367;17220875;17290220;17322306;17332328;17443180;17466625;17466626;17497243;17635991;17785452;17873522;17882165;17948053;17980597;17981138;18079701;18093314;18172164;18206966;18452278;18467330;18593899;18614043;18632802;18636086;18669648;18707149;18767875;18775313;18776931;18805092;18826954;18851830;18926707;19015242;19056823;19109893;19135894;19188362;19250909;19279666;19321346;19363159;19398555;19415658;19424180;19609301;19617556;19651622;19661379;19664994;19690332;19713942;19748355;19838211;19874889;19910467;19940136;19941824;19966799;20058876;20068231;20096447;20166139;20227374;20228808;20368362;20368735;20501646;20855601;20876134;21135142;21239494;21282463;21362556;21388382;21406692;21447816;21463634;21571647;21596315;21659512;21778237;21849505;21863050;21940857;21962518;22012619;22029577;22081108;22085928;22118460;22128162;22216260;22306028;22466964;22537386;22822215;22869377;22959436;22988298;23038248;23045548;23159851;23186163;23201271;23319653;23333871;23352696;23395819;23401859;23453757;23486064;23535662;23535663;23563313;23583660;23751493;23824326;23825189;23912815;23986495;24056413;24076655;24260525;24366543;24493797;24554720;24636985;24662513;24715725;24793695;24793696;24896179;25154395;25197364;25305019;25314029;25349211;25355947;25418920;25429106;25531226;25538220;25561469;25576301;25578727;25712099;26042670;26151477;26154972;26344709;26460955;26572825;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28218747;28228285;28510447;28514659;28832583;28834231;29153394;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30610225;31844290;31848261;31998317;32005965;32157095;32161166;32284348;32502341;32789493;32938616;32983136;33141586;33298915;33444648;33717175;33912179;33936100;33968037;34211107;34561969;35051231;35580925;36480042;36672781;37573316;38665916;38860936;7559382;7578059;7700386;8168482;8530102;8692841;8798680;9063748;9130708;9632823;9699634;9716411;9771713;9790970;9887101;9891082;9892649", "class_list": "", "function": "Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report. Publication Status: Online-Only, [RefSeq, PubMed]; DDB2 promotes melanoma cell growth by transcriptionally regulating the expression of KMT2A and predicts a poor prognosis., [RefSeq, PubMed]; Four Genes Predictive for the Severity of Hematological Damage Reveal a Similar Response after X Irradiation and Chemotherapy., [RefSeq, PubMed]; Inhibits UV-damaged DNA repair., [UniProtKB, PubMed]; Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:32789493, PubMed:9892649). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:12944386, PubMed:14751237, PubMed:16260596, PubMed:32789493). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:12944386, PubMed:16260596). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16473935, PubMed:16678110). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16473935, PubMed:16678110). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The Role of Alternative Splicing Factors, DDB2-Related Ageing and DNA Damage Repair in the Progression and Prognosis of Stomach Adenocarcinoma Patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two 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": 2, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R875;Q76E54;Q76E55;Q76E56;Q76E57", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003684 damaged DNA binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0009411 response to UV;GO:0000209 protein polyubiquitination;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 33.4, "record_id": "Q92466-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60931-1", "uniprot_id": [ { "id": "CTNS_HUMAN", "url": "https://www.uniprot.org/uniprot/O60931", "type": "external" } ], "mass": 41738.0, "length": 367, "protein_name": "Cystinosin", "gene_name": "CTNS", "organism": "Human", "refseq_name": "cystinosin isoform 1 precursor", "refseq_ac": [ { "id": "NP_001026851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026851", "type": "external" } ], "gene_names_uniprotkb": "CTNS", "gene_names_refseq": "CTNS-LSB; CTNS; PQLC4; SLC66A4", "protein_names_uniprotkb": "Cystinosin", "protein_names_refseq": "cystinosin isoform 1 precursor; cystinosis nephropathic", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); traumatic brain injury (Disease Ontology:DOID:0081292); bacterial infectious disease (Disease Ontology:DOID:104); Fanconi syndrome (Disease Ontology:DOID:1062); cystinosis (Disease Ontology:DOID:1064); Alzheimer's disease (Disease Ontology:DOID:10652); kidney failure (Disease Ontology:DOID:1074); hypertension (Disease Ontology:DOID:10763); Huntington's disease (Disease Ontology:DOID:12858); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); tracheal stenosis (Disease Ontology:DOID:3227); hyperglycemia (Disease Ontology:DOID:4195); ureteral obstruction (Disease Ontology:DOID:5199); end stage renal disease (Disease Ontology:DOID:783); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1497); (R-HSA-5223345); (R-HSA-9959399)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10068513;10444339;10482956;10556299;10571941;10625078;10673275;11150305;11237011;11326272;11326338;11401429;11565547;11689434;12204010;12297987;12297989;12442267;12825071;12951058;13130483;14984739;15128704;15804357;17166836;17897319;18057121;18337546;18347014;1840603;18930737;19262752;1955075;19717468;19852576;19863563;21786142;22119785;22232659;22450360;22544350;22649030;23169667;24725410;24790029;25753619;26620797;26635246;26824658;27102039;27148969;28082515;29467429;31154438;33208952;34357683;35051231;35154160;35513889;35524314;35580925;36010968;36113465;37949358;38069326;39894887;4018271;7615546;7619062;7749638;9114041;9537412;9792862", "class_list": "glycogene", "function": "Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:15128704, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:36113465). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (PubMed:36113465). Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cystinosis and two rare mutations in CTNS gene: two case reports. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis. Publication Status: Online-Only, [RefSeq, PubMed]; Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells., [RefSeq, PubMed]; Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 41, "reported_glycation": 0, "reported_snv": 592, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "D3DTJ5;Q8IZ01;Q9UNK6", "ec_number_list": [], "go_molecular_function": "GO:0015295 solute:proton symporter activity;GO:0015184 L-cystine transmembrane transporter activity;GO:0015179 L-amino acid transmembrane transporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0042470 melanosome", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0015031 protein transport;GO:0050890 cognition;GO:0055085 transmembrane transport;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O60931-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L168-1", "uniprot_id": [ { "id": "CT202_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L168", "type": "external" } ], "mass": 10962.0, "length": 99, "protein_name": "Uncharacterized protein C20orf202", "gene_name": "C20orf202", "organism": "Human", "refseq_name": "uncharacterized protein C20orf202", "refseq_ac": [ { "id": "NP_001381887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001381887", "type": "external" } ], "gene_names_uniprotkb": "C20orf202", "gene_names_refseq": "C20orf202", "protein_names_uniprotkb": "Uncharacterized protein C20orf202", "protein_names_refseq": "uncharacterized protein C20orf202", "tax_id": 9606, "disease": "", "pathway": " (hsa:400831)", "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": "A1L168-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B9A014-1", "uniprot_id": [ { "id": "F243A_HUMAN", "url": "https://www.uniprot.org/uniprot/B9A014", "type": "external" } ], "mass": 29214.0, "length": 251, "protein_name": "Uncharacterized protein C21orf140", "gene_name": "C21orf140", "organism": "Human", "refseq_name": "uncharacterized protein C21orf140", "refseq_ac": [ { "id": "NP_001269466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269466", "type": "external" } ], "gene_names_uniprotkb": "C21orf140; FAM243A", "gene_names_refseq": "C21orf140; FAM243A", "protein_names_uniprotkb": "Uncharacterized protein C21orf140; Protein FAM243A", "protein_names_refseq": "family with sequence similarity 243 member A; protein FAM243A; uncharacterized protein C21orf140", "tax_id": 9606, "disease": "", "pathway": " (hsa:101928147)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "34509645", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B9A014-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01040-1", "uniprot_id": [ { "id": "CYTA_HUMAN", "url": "https://www.uniprot.org/uniprot/P01040", "type": "external" } ], "mass": 11006.0, "length": 98, "protein_name": "Cystatin-A", "gene_name": "CSTA", "organism": "Human", "refseq_name": "cystatin-A", "refseq_ac": [ { "id": "NP_005204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005204", "type": "external" } ], "gene_names_uniprotkb": "CSTA; STF1; STFA", "gene_names_refseq": "AREI; CSTA; PSS4; STF1; STFA", "protein_names_uniprotkb": "Cystatin-A; Cystatin-AS; Stefin-A", "protein_names_refseq": "cystatin A (stefin A); cystatin AS; cystatin-A", "tax_id": 9606, "disease": "peeling skin syndrome 4 (Disease Ontology:DOID:0070523); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:1475); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;1286667;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;1940442;20179351;20657595;20667819;20940292;21439340;21654840;21944047;21997417;22066523;23534700;23629652;2442723;25400170;25645385;25926655;26374642;26375851;26390218;26992070;2768224;28467828;29242379;29557506;29605689;29786170;30397120;30524438;30779550;30833945;31092671;31222486;32387766;32983136;33392160;33831734;34078123;34087483;34171305;35051231;35563761;35580925;36284347;36963524;38665916;6689312;7543090;7578072;7869384;8824274;8999895;9395522;9522124;9565599;9651321", "class_list": "glycogene", "function": "Correlated with better prognosis, CSTA inhibits metastasis of nasopharyngeal carcinoma cells via suppressing AKT signaling through promoting METTL3 degradation., [RefSeq, PubMed]; Decreased CSTA expression promotes lymphatic metastasis and predicts poor survival in oral squamous cell carcinoma., [RefSeq, PubMed]; In Silico, In Vitro, and Clinical Investigations of Cathepsin B and Stefin A mRNA Expression and a Correlation Analysis in Kidney Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]., [RefSeq]; This is an intracellular thiol proteinase inhibitor. Has an important role in desmosome-mediated cell-cell adhesion in the lower levels of the epidermis., [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": 135, "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": "Q6IB90", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0030216 keratinocyte differentiation;GO:0098609 cell-cell adhesion;GO:0018149 peptide cross-linking;GO:0045861 negative regulation of proteolysis", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P01040-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9J6K1-1", "uniprot_id": [ { "id": "CS081_HUMAN", "url": "https://www.uniprot.org/uniprot/C9J6K1", "type": "external" } ], "mass": 22444.0, "length": 198, "protein_name": "Putative uncharacterized protein C19orf81", "gene_name": "C19orf81", "organism": "Human", "refseq_name": "putative uncharacterized protein C19orf81", "refseq_ac": [ { "id": "NP_001182005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182005", "type": "external" } ], "gene_names_uniprotkb": "C19orf81", "gene_names_refseq": "C19orf81", "protein_names_uniprotkb": "Putative uncharacterized protein C19orf81", "protein_names_refseq": "putative uncharacterized protein C19orf81", "tax_id": 9606, "disease": "", "pathway": " (hsa:342918)", "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": "C9J6K1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53672-1", "uniprot_id": [ { "id": "CRBA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P53672", "type": "external" } ], "mass": 22096.0, "length": 197, "protein_name": "Beta-crystallin A2", "gene_name": "CRYBA2", "organism": "Human", "refseq_name": "beta-crystallin A2", "refseq_ac": [ { "id": "NP_476434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_476434", "type": "external" } ], "gene_names_uniprotkb": "CRYBA2", "gene_names_refseq": "CRYBA2; CTRCT42", "protein_names_uniprotkb": "Beta-crystallin A2; Beta-A2 crystallin", "protein_names_refseq": "beta-crystallin A2; eye lens structural protein", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); cataract 42 (Disease Ontology:DOID:0110237); hypertension (Disease Ontology:DOID:10763); persistent fetal circulation syndrome (Disease Ontology:DOID:13042); vascular disease (Disease Ontology:DOID:178); hepatocellular carcinoma (Disease Ontology:DOID:684); carbamoyl phosphate synthetase I deficiency disease (Disease Ontology:DOID:9280); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1412)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12907171;20546612;23508780;24035193;37438446;7490092", "class_list": "", "function": "A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family., [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "Q4ZFX0;Q9Y562", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005212 structural constituent of eye lens", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P53672-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75131-1", "uniprot_id": [ { "id": "CPNE3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75131", "type": "external" } ], "mass": 60131.0, "length": 537, "protein_name": "Copine-3", "gene_name": "CPNE3", "organism": "Human", "refseq_name": "copine-3", "refseq_ac": [ { "id": "NP_003900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003900", "type": "external" } ], "gene_names_uniprotkb": "CPNE3; CPN3; KIAA0636", "gene_names_refseq": "CPN3; CPNE3; PRO1071", "protein_names_uniprotkb": "Copine-3; Copine III", "protein_names_refseq": "copine III; copine-3", "tax_id": 9606, "disease": "erythema multiforme (Disease Ontology:DOID:0050185); immunodeficiency 116 (Disease Ontology:DOID:0061082); COVID-19 (Disease Ontology:DOID:0080600); stomach cancer (Disease Ontology:DOID:10534); brain infarction (Disease Ontology:DOID:3454); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); amphetamine abuse (Disease Ontology:DOID:670)", "pathway": " (hsa:8895); (R-HSA-1483206); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;11041869;11237011;1168700;12042320;12440769;12949241;15104674;15939762;18264096;18452278;18669648;20010870;20068231;21087455;22284826;23186163;23301498;23481700;23650620;24275569;24338473;24715725;25002142;25502872;25576301;25645385;25892735;26154972;26755581;26768311;26992070;27846572;27920218;28228285;28832583;28834231;29242379;29314611;29351928;29393594;29493099;29557506;29632711;29786170;30078189;30379171;30429286;31020640;31092671;31844290;32119511;32157095;32350084;32357974;32387766;32502341;32870666;32938616;33141586;33214551;33298915;33537174;33592498;33691108;33717175;33725213;33767297;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34725712;34932366;35008409;35051231;35138101;35154160;35561310;35580925;36010968;36241641;36284347;37938771;38293984;38493426;38665916;39534244;40596516;8692836;9430674", "class_list": "", "function": "CPNE3 moderates the association between anxiety and working memory. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008]., [RefSeq]; Calcium-dependent phospholipid-binding protein that plays a role in ERBB2-mediated tumor cell migration in response to growth factor heregulin stimulation (PubMed:20010870)., [UniProtKB, PubMed]; Exosomal CPNE3 levels are associated with the tumor extent and may serve as a diagnostic biomarker in colorectal cancer patients., [RefSeq, PubMed]; Susceptibility genes CPNE3, IL16 and CDH13 with moderate effects associated with susceptibility to prostate cancer. GeneRIF: Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Upregulation of CPNE3 suppresses invasion, migration and proliferation of glioblastoma cells through FAK pathway inactivation., [RefSeq, PubMed]; YAP1-CPNE3 positive feedback pathway promotes gastric cancer cell progression. Publication Status: Online-Only, [RefSeq, PubMed]; [High expression of CPNE3 correlates with poor long-term prognosis of gastric cancer by inhibiting cell apoptosis via activating PI3K/AKT signaling]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8KA47;Q8IYA1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0046872 metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0046474 glycerophospholipid biosynthetic process;GO:0071277 cellular response to calcium ion;GO:0071363 cellular response to growth factor stimulus;GO:0038128 ERBB2 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O75131-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1W3-1", "uniprot_id": [ { "id": "TM63C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1W3", "type": "external" } ], "mass": 93317.0, "length": 806, "protein_name": "Osmosensitive cation channel TMEM63C", "gene_name": "TMEM63C", "organism": "Human", "refseq_name": "osmosensitive cation channel TMEM63C", "refseq_ac": [ { "id": "NP_065164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065164", "type": "external" } ], "gene_names_uniprotkb": "TMEM63C; C14orf171; CSC1", "gene_names_refseq": "C14orf171; CSC1; SPG87; TMEM63C; hTMEM63C; hsCSC1", "protein_names_uniprotkb": "Osmosensitive cation channel TMEM63C; Calcium permeable stress-gated cation channel 1; Transmembrane protein 63C; hTMEM63C", "protein_names_refseq": "calcium permeable stress-gated cation channel 1 homolog; osmosensitive cation channel TMEM63C", "tax_id": 9606, "disease": "hereditary spastic paraplegia 87 (Disease Ontology:DOID:0070456); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); central nervous system disease (Disease Ontology:DOID:331)", "pathway": " (hsa:57156)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;24190977;24503647;26992070;27600516;29557506;30779550;31844290;32157095;32161166;32750436;32897882;33080601;34087483;35051231;35580925;35718349;37543036;39716028", "class_list": "", "function": "Acts as an osmosensitive cation channel preferentially activated upon hypotonic stress (PubMed:24503647, PubMed:35718349). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Enriched in mitochondria-ER contact sites where it may regulate the metabolite flux and organelles' morphologies in response to osmotic changes (PubMed:35718349). In particular may regulate mitochondrial motility and function in motor neuron axons (PubMed:35718349). Required for the functional integrity of the kidney glomerular filtration barrier (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Erratum:[Brain. 2022 Oct 21;145(10):e103. doi: 10.1093/brain/awac254. PMID: 36076346], [RefSeq, PubMed]; TMEM63C, a Potential Novel Target for Albuminuria Development, Is Regulated by MicroRNA-564 and Transforming Growth Factor beta in Human Renal Cells., [RefSeq, PubMed]; Tmem63c is a potential pro-survival factor in angiotensin II-treated human podocytes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RN22;B3KWJ5;Q86TS3;Q86TS4;Q9NSQ4;Q9P1W1", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005227 calcium-activated cation channel activity;GO:1990760 osmolarity-sensing monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006812 monoatomic cation transport;GO:0003094 glomerular filtration", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9P1W3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16526-1", "uniprot_id": [ { "id": "CRY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16526", "type": "external" } ], "mass": 66395.0, "length": 586, "protein_name": "Cryptochrome-1", "gene_name": "CRY1", "organism": "Human", "refseq_name": "cryptochrome-1 isoform d", "refseq_ac": [ { "id": "NP_004066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004066", "type": "external" } ], "gene_names_uniprotkb": "CRY1; PHLL1", "gene_names_refseq": "CRY1; DSPD; PHLL1", "protein_names_uniprotkb": "Cryptochrome-1", "protein_names_refseq": "cryptochrome 1 (photolyase-like); cryptochrome circadian clock 1; cryptochrome-1 isoform d; cryptochrome-1", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease recessive intermediate D (Disease Ontology:DOID:0110203); delayed sleep phase syndrome (Disease Ontology:DOID:0111141); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); mitochondrial encephalomyopathy (Disease Ontology:DOID:890); delayed sleep phase syndrome, susceptibility to (MONDO:MONDO:0800001)", "pathway": " (hsa:1407); (R-HSA-9931510); (R-HSA-9931521); (R-HSA-9931530); (R-HSA-9932298)", "pathway_count": 5, "publication_count": 72, "publication_id_list": "10531061;10790862;10857746;11165242;11232563;11237011;14672706;14750904;15298678;15800623;15917222;16790549;17463251;17994337;18083107;18317514;1971514;19805222;19833968;20852621;21613214;21892142;22170608;22798407;23133559;23303907;23452856;23481700;23916625;25418920;25892735;26431207;27565346;27846572;27920218;28063628;28218747;28388406;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29632046;29769354;29784789;29786170;30500822;30530698;31844290;32157095;32265295;32350084;32357974;32387766;32938616;33141586;33298915;33717175;33912179;33968037;34171305;35051231;35251023;37606043;38199564;38522484;8600518;8909283;8921389", "class_list": "", "function": "Circadian modulation of glucose utilization via CRY1-mediated repression of Pdk1 expression., [RefSeq, PubMed]; Cry1Delta11 mutation induces ADHD-like symptoms through hyperactive dopamine D1 receptor signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Cryptochrome 1 regulates ovarian granulosa cell senescence through NCOA4-mediated ferritinophagy., [RefSeq, PubMed]; This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014]., [RefSeq]; Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. CRY1 and CRY2 have redundant functions but also differential and selective contributions at least in defining the pace of the SCN circadian clock and its circadian transcriptional outputs. More potent transcriptional repressor in cerebellum and liver than CRY2, though more effective in lengthening the period of the SCN oscillator. On its side, CRY2 seems to play a critical role in tuning SCN circadian period by opposing the action of CRY1. With CRY2, is dispensable for circadian rhythm generation but necessary for the development of intercellular networks for rhythm synchrony. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. Interacts with CLOCK-BMAL1 independently of PER proteins and is found at CLOCK-BMAL1-bound sites, suggesting that CRY may act as a molecular gatekeeper to maintain CLOCK-BMAL1 in a poised and repressed state until the proper time for transcriptional activation. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1. Represses the CLOCK-BMAL1 induced transcription of ATF4, MTA1, KLF10 and NAMPT (By similarity). May repress circadian target genes expression in collaboration with HDAC1 and HDAC2 through histone deacetylation. Mediates the clock-control activation of ATR and modulates ATR-mediated DNA damage checkpoint. In liver, mediates circadian regulation of cAMP signaling and gluconeogenesis by binding to membrane-coupled G proteins and blocking glucagon-mediated increases in intracellular cAMP concentrations and CREB1 phosphorylation. Inhibits hepatic gluconeogenesis by decreasing nuclear FOXO1 levels that down-regulates gluconeogenic gene expression (By similarity). Besides its role in the maintenance of the circadian clock, is also involved in the regulation of other processes. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by binding to glucocorticoid response elements (GREs). Plays a key role in glucose and lipid metabolism modulation, in part, through the transcriptional regulation of genes involved in these pathways, such as LEP or ACSL4 (By similarity). Represses PPARD and its target genes in the skeletal muscle and limits exercise capacity (By similarity). Plays an essential role in the generation of circadian rhythms in the retina (By similarity). Represses the transcriptional activity of NR1I2 (By similarity)., [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0009882 blue light photoreceptor activity;GO:0003677 DNA binding;GO:0019901 protein kinase binding;GO:0071949 FAD binding;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0009785 blue light signaling pathway;GO:2000001 regulation of DNA damage checkpoint;GO:2000850 negative regulation of glucocorticoid secretion;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q16526-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "K7EIQ3-1", "uniprot_id": [ { "id": "CS082_HUMAN", "url": "https://www.uniprot.org/uniprot/K7EIQ3", "type": "external" } ], "mass": 11601.0, "length": 104, "protein_name": "Uncharacterized protein ZNF561-AS1", "gene_name": "ZNF561-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZNF561-AS1; C19orf82", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein ZNF561-AS1; ZNF561 antisense RNA 1; ZNF561 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "26154972;28832583;31844290;32357974", "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": 0.5, "record_id": "K7EIQ3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7G2-1", "uniprot_id": [ { "id": "CPLX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7G2", "type": "external" } ], "mass": 18336.0, "length": 160, "protein_name": "Complexin-4", "gene_name": "CPLX4", "organism": "Human", "refseq_name": "complexin-4", "refseq_ac": [ { "id": "NP_857637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_857637", "type": "external" } ], "gene_names_uniprotkb": "CPLX4", "gene_names_refseq": "CPLX4; CPX-IV; CPXIV", "protein_names_uniprotkb": "Complexin-4; CPX IV; Complexin IV", "protein_names_refseq": "CPX IV; complexin IV; complexin-4", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:339302)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;15911881;21697133", "class_list": "", "function": "Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity)., [UniProtKB, UniProtKB]; This gene likely encodes a member of the complexin family. The encoded protein may be involved in synaptic vesicle exocytosis. [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": 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": "F1T0L6", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043195 terminal bouton;GO:0031201 SNARE complex;GO:0045202 synapse", "go_biological_process": "GO:0007601 visual perception;GO:0050804 modulation of chemical synaptic transmission;GO:0031630 regulation of synaptic vesicle fusion to presynaptic active zone membrane;GO:0016079 synaptic vesicle exocytosis;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q7Z7G2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14578-1", "uniprot_id": [ { "id": "CTRO_HUMAN", "url": "https://www.uniprot.org/uniprot/O14578", "type": "external" } ], "mass": 231431.0, "length": 2027, "protein_name": "Citron Rho-interacting kinase", "gene_name": "CIT", "organism": "Human", "refseq_name": "citron Rho-interacting kinase isoform 1", "refseq_ac": [ { "id": "NP_001193928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193928", "type": "external" } ], "gene_names_uniprotkb": "CIT; CRIK; KIAA0949; STK21", "gene_names_refseq": "CITK; CIT; CRIK; MCPH17; STK21", "protein_names_uniprotkb": "Citron Rho-interacting kinase; 2.7.11.1; CRIK; Serine/threonine-protein kinase 21", "protein_names_refseq": "citron (rho-interacting, serine/threonine kinase 21); citron Rho-interacting kinase isoform 1; serine/threonine-protein kinase 21", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 17 (Disease Ontology:DOID:0070288); primary microcephaly (Disease Ontology:DOID:0070297); traumatic brain injury (Disease Ontology:DOID:0081292); microcephaly (Disease Ontology:DOID:10907); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:11113); (R-HSA-5625900); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013149)", "pathway_count": 6, "publication_count": 388, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12195014;12221077;12221096;12351724;12432077;12473120;12531887;12546821;12547822;12650940;12665586;12802051;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;15866170;15897194;15944396;15983625;16002401;16112081;16116428;16184169;16202622;16217026;16236794;16243036;16431929;16467373;16473593;16492808;16507994;16519628;16565220;16630611;16636067;16702231;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16968698;17077126;17081983;17145773;17196961;17198702;17214551;17244649;17344846;17488780;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18158243;18218625;18249095;18347018;18396277;18426980;18452278;18653540;18669648;18691976;18802007;18829452;18838382;19007248;19269969;19413330;19494238;19605563;19608861;19635168;19664994;19664995;19673492;19690332;19691289;19713215;19934221;20030946;20058876;20068231;20084519;20101212;20369383;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21373644;21406692;21454492;21457715;21542010;21565175;21576392;21613211;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22293177;22298643;22305756;22407364;22475431;22608513;22673745;22734669;22790947;22869377;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23434736;23444367;23481700;23572525;23707487;23716662;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24366607;24714562;24715725;24859002;24933155;24960694;25024229;25211221;25418920;25425145;25428919;25576301;25645385;25673874;25704760;25721503;25795300;25862245;25880248;26129894;26154972;26371245;26375851;26529257;26768311;26811146;26887924;26992070;27117132;27145964;27216196;27453578;27453579;27481945;27503289;27519304;27555588;27566826;27600516;27713499;27806292;27846572;27920218;27986909;28112683;28114311;28196833;28218747;28228285;28584191;28657654;28832583;28834231;28904123;29089502;29146911;29242379;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30524438;30853411;31105010;31154438;31217245;31222486;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32161166;32203420;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35494241;35561310;35580925;36010968;36241641;37801613;37938771;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9305890;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9870942;9870943;9988689", "class_list": "", "function": "CITRON has a role in proliferation of hepatocellular carcinoma cells, [RefSeq, PubMed]; During cytokinesis, the localization of KIF14 and citron kinase to the central spindle and midbody is codependent, and they form a complex depending on the activation state of citron kinase., [RefSeq, PubMed]; Evidence of statistical epistasis between DISC1, CIT and NDEL1 impacting risk for schizophrenia: biological validation with functional neuroimaging. GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) Erratum:[Hum Genet. 2010 Apr;127(4):453-4], [RefSeq, PubMed]; Plays a role in cytokinesis. Required for KIF14 localization to the central spindle and midbody. Putative RHO/RAC effector that binds to the GTP-bound forms of RHO and RAC1. It probably binds p21 with a tighter specificity in vivo. Displays serine/threonine protein kinase activity. Plays an important role in the regulation of cytokinesis and the development of the central nervous system. Phosphorylates MYL9/MLC2., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Prostate Cancer Progression Relies on the Mitotic Kinase Citron Kinase., [RefSeq, PubMed]; Single nucleotide polymorphisms associated with bipolar disorder. Erratum:[Mol Psychiatry. 2006 Jun;11(6):612], [RefSeq, PubMed]; This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2M5E1;Q6XUH8;Q86UQ9;Q9UPZ7", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0032956 regulation of actin cytoskeleton organization;GO:0051402 neuron apoptotic process;GO:0000281 mitotic cytokinesis;GO:0035331 negative regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 39.3, "record_id": "O14578-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95567-1", "uniprot_id": [ { "id": "CV031_HUMAN", "url": "https://www.uniprot.org/uniprot/O95567", "type": "external" } ], "mass": 32655.0, "length": 290, "protein_name": "Uncharacterized protein C22orf31", "gene_name": "C22orf31", "organism": "Human", "refseq_name": "uncharacterized protein C22orf31 isoform 1", "refseq_ac": [ { "id": "NP_056185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056185", "type": "external" } ], "gene_names_uniprotkb": "C22orf31", "gene_names_refseq": "C22orf31; HS747E2A; bK747E2.1", "protein_names_uniprotkb": "Uncharacterized protein C22orf31", "protein_names_refseq": "uncharacterized protein C22orf31 isoform 1; uncharacterized protein C22orf31", "tax_id": 9606, "disease": "", "pathway": " (hsa:25770)", "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": "A0AV97", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "O95567-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02741-1", "uniprot_id": [ { "id": "CRP_HUMAN", "url": "https://www.uniprot.org/uniprot/P02741", "type": "external" } ], "mass": 25039.0, "length": 224, "protein_name": "C-reactive protein", "gene_name": "CRP", "organism": "Human", "refseq_name": "C-reactive protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_000558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000558", "type": "external" } ], "gene_names_uniprotkb": "CRP; PTX1", "gene_names_refseq": "CRP; PTX1", "protein_names_uniprotkb": "C-reactive protein", "protein_names_refseq": "C-reactive protein isoform 1 precursor; C-reactive protein, pentraxin-related; pentraxin 1", "tax_id": 9606, "disease": "mevalonic aciduria (Disease Ontology:DOID:0050452); inflammatory bowel disease (Disease Ontology:DOID:0050589); obstructive sleep apnea (Disease Ontology:DOID:0050848); renal fibrosis (Disease Ontology:DOID:0050855); non-arteritic anterior ischemic optic neuropathy (Disease Ontology:DOID:0050864); atrial fibrillation (Disease Ontology:DOID:0060224); mastoiditis (Disease Ontology:DOID:0060322); overactive bladder syndrome (Disease Ontology:DOID:0070355); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); lupus nephritis (Disease Ontology:DOID:0080162); COVID-19 (Disease Ontology:DOID:0080600); pelvic inflammatory disease (Disease Ontology:DOID:1003); bacterial infectious disease (Disease Ontology:DOID:104); interstitial nephritis (Disease Ontology:DOID:1063); renal hypertension (Disease Ontology:DOID:1073); kidney failure (Disease Ontology:DOID:1074); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); heart disease (Disease Ontology:DOID:114); pyelonephritis (Disease Ontology:DOID:11400); hypertensive retinopathy (Disease Ontology:DOID:11561); familial hyperlipidemia (Disease Ontology:DOID:1168); iron deficiency anemia (Disease Ontology:DOID:11758); vestibular neuronitis (Disease Ontology:DOID:12683); cardiovascular system disease (Disease Ontology:DOID:1287); Sjogren's syndrome (Disease Ontology:DOID:12894); Behcet's disease (Disease Ontology:DOID:13241); Mycoplasma pneumoniae pneumonia (Disease Ontology:DOID:13276); temporal arteritis (Disease Ontology:DOID:13375); Kawasaki disease (Disease Ontology:DOID:13378); pulmonary sarcoidosis (Disease Ontology:DOID:13406); low tension glaucoma (Disease Ontology:DOID:13544); aspergillosis (Disease Ontology:DOID:13564); pharyngoconjunctival fever (Disease Ontology:DOID:13801); interstitial cystitis (Disease Ontology:DOID:13949); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); Parkinson's disease (Disease Ontology:DOID:14330); aggressive periodontitis (Disease Ontology:DOID:1474); urticaria (Disease Ontology:DOID:1555); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); retinal vein occlusion (Disease Ontology:DOID:1727); status epilepticus (Disease Ontology:DOID:1824); atherosclerosis (Disease Ontology:DOID:1936); anxiety disorder (Disease Ontology:DOID:2030); colon cancer (Disease Ontology:DOID:219); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); pulmonary tuberculosis (Disease Ontology:DOID:2957); antiphospholipid syndrome (Disease Ontology:DOID:2988); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); breast carcinoma (Disease Ontology:DOID:3459); middle cerebral artery infarction (Disease Ontology:DOID:3525); mouth disease (Disease Ontology:DOID:403); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); uveal melanoma (Disease Ontology:DOID:6039); acute stress disorder (Disease Ontology:DOID:6088); lymphopenia (Disease Ontology:DOID:614); pulmonary hypertension (Disease Ontology:DOID:6432); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); arthritis (Disease Ontology:DOID:848); polymyalgia rheumatica (Disease Ontology:DOID:853); Crohn's disease (Disease Ontology:DOID:8778); intermediate coronary syndrome (Disease Ontology:DOID:8805); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); otitis externa (Disease Ontology:DOID:9463); bacterial meningitis (Disease Ontology:DOID:9470); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1401); (R-HSA-173623)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10368284;11237011;1249422;14702039;15489334;16710414;19470939;21037097;21081667;23719902;24481866;265538;27726376;29552019;29557506;29786170;29789417;2997165;30459761;30483265;30619374;31154438;31477553;31582665;32048163;32161940;32224151;32243911;32259132;32277967;32281668;32296824;32324595;32344321;32347972;32368728;32369209;32388230;32414383;32425269;32471703;32475810;32492406;32503382;32511972;32566572;32589600;32615866;32669866;32677844;32766546;33349241;34391864;34439862;34559143;35051231;37138875;3840479;38947332;39240968;39280318;403526;6685157;6857266;762075;788190;7881902;814163;8599761;9188844", "class_list": "", "function": "C-reactive protein: structure, function, regulation, and role in clinical diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Displays several functions associated with host defense: it promotes agglutination, bacterial capsular swelling, phagocytosis and complement fixation through its calcium-dependent binding to phosphorylcholine. Can interact with DNA and histones and may scavenge nuclear material released from damaged circulating cells., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Role of estradiol and C-reactive protein levels on genitourinary syndrome in menopausal women., [RefSeq, PubMed]; Structural basis for surface activation of the classical complement cascade by the short pentraxin C-reactive protein., [RefSeq, PubMed]; The protein encoded by this gene belongs to the pentraxin family which also includes serum amyloid P component protein and pentraxin 3. Pentraxins are involved in complement activation and amplification via communication with complement initiation pattern recognition molecules, but also complement regulation via recruitment of complement regulators. The encoded protein has a calcium dependent ligand binding domain with a distinctive flattened beta-jellyroll structure. It exists in two forms as either a pentamer in circulation or as a nonsoluble monomer in tissues. It is involved in several host defense related functions based on its ability to recognize foreign pathogens and damaged cells of the host and to initiate their elimination by interacting with humoral and cellular effector systems in the blood. Consequently, the level of this protein in plasma increases greatly during acute phase response to tissue injury, infection, or other inflammatory stimuli. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) infection. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "prognostic; monitoring; predictive", "glycan_count": 0, "disease_count": 85, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K078;D3DVD9;D3DVE0;Q08AK3;Q8WW75", "ec_number_list": [], "go_molecular_function": "GO:0033265 choline binding;GO:0042802 identical protein binding;GO:0050750 low-density lipoprotein particle receptor binding;GO:0005509 calcium ion binding;GO:0030169 low-density lipoprotein particle binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0010888 negative regulation of lipid storage;GO:0006954 inflammatory response;GO:0010628 positive regulation of gene expression;GO:0032930 positive regulation of superoxide anion generation;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P02741-1", "record_type": "protein", "filter_code": "0111000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04141-1", "uniprot_id": [ { "id": "CSF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P04141", "type": "external" } ], "mass": 16295.0, "length": 144, "protein_name": "Granulocyte-macrophage colony-stimulating factor", "gene_name": "CSF2", "organism": "Human", "refseq_name": "granulocyte-macrophage colony-stimulating factor precursor", "refseq_ac": [ { "id": "NP_000749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000749", "type": "external" } ], "gene_names_uniprotkb": "CSF2; GMCSF", "gene_names_refseq": "CSF2; CSF; GMCSF", "protein_names_uniprotkb": "Granulocyte-macrophage colony-stimulating factor; CSF; Colony-stimulating factor; GM-CSF; Molgramostin; Sargramostim", "protein_names_refseq": "colony stimulating factor 2 (granulocyte-macrophage); granulocyte macrophage-colony stimulating factor; granulocyte-macrophage colony-stimulating factor precursor; molgramostim; molgramostin; sargramostim", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); COVID-19 (Disease Ontology:DOID:0080600); Parkinsonism (Disease Ontology:DOID:0080855); silicosis (Disease Ontology:DOID:10325); pneumocystosis (Disease Ontology:DOID:11339); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); neutropenia (Disease Ontology:DOID:1227); temporal arteritis (Disease Ontology:DOID:13375); interstitial cystitis (Disease Ontology:DOID:13949); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); myocardial infarction (Disease Ontology:DOID:5844); abdominal aortic aneurysm (Disease Ontology:DOID:7693); acute myeloid leukemia (Disease Ontology:DOID:9119); visceral leishmaniasis (Disease Ontology:DOID:9146)", "pathway": " (hsa:1437); (R-HSA-512988); (R-HSA-5673001); (R-HSA-6783783); (R-HSA-8939246); (R-HSA-912526)", "pathway_count": 6, "publication_count": 165, "publication_id_list": "10.1038/emboj.2013.79;10092818;10207047;10415057;10433356;10455108;10477686;10477722;10508167;10570274;10869344;10949031;10982827;11027663;11090077;11136978;11313946;11328862;11340297;11546808;11702783;12032311;12094235;12121613;12554859;12626585;12832402;1396555;1400495;14506247;14561740;1460289;1465135;14707138;15009203;15356145;1536571;1545823;15546878;1569568;1576999;15919823;16027123;16627759;16684964;16982608;1702217;1716764;1737041;17998941;1833064;1833065;1837174;18438928;18692472;18775330;1898771;19020999;19279408;1940369;1940799;19920141;20145033;20439113;20478380;2065657;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;23584533;23800752;24743777;24897931;24937142;25219551;2555171;25781681;26085527;2681215;27638310;28778966;31135801;3486413;35051231;37700482;37867465;38113014;38142781;38589318;3876930;3898082;3923623;3925454;6148751;7510216;7512027;7512451;7513165;7516408;7543512;7593617;7594602;7651724;7684412;7687627;7737670;7809086;7902377;7935463;7972015;8007942;8052307;8063757;8084588;8102388;8120391;8163946;8186324;8294403;8301137;8394845;8483502;8493579;8537680;8647804;8662928;8665852;8710374;8734788;8742066;8871669;8897595;8910398;8921438;8939933;8946277;8947042;9013939;9030599;9099679;9108392;9111318;9162089;9312047;9354687;9422786;9449724;9550426;9604935;9685210;9766809;9794440;9836587;9885561;9918218;9927426", "class_list": "", "function": "A GITRL-mTORC1-GM-CSF Positive Loop Promotes Pathogenic Th17 Response in Primary Sjogren Syndrome., [RefSeq, PubMed]; Adenine is an anti-inflammatory metabolite found to be more abundant in M-CSF over GM-CSF-differentiated human macrophages., [RefSeq, PubMed]; Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes., [UniProtKB, PubMed]; GM-CSF Promotes the Development of Dysfunctional Vascular Networks in Moyamoya Disease., [RefSeq, PubMed]; GM-CSF is a marker of compartmentalised intrathecal inflammation in multiple sclerosis., [RefSeq, PubMed]; T1 and FLAIR signal intensities are related to tau pathology in dominantly inherited Alzheimer disease., [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]., [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": 1, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "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": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q14CE8;Q2VPI8;Q8NFI6", "ec_number_list": [], "go_molecular_function": "GO:0005129 granulocyte macrophage colony-stimulating factor receptor binding;GO:0005125 cytokine activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0032747 positive regulation of interleukin-23 production;GO:0034021 response to silicon dioxide;GO:0042045 epithelial fluid transport;GO:0045187 regulation of circadian sleep/wake cycle, sleep;GO:0006955 immune response", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "P04141-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100110010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DML2-1", "uniprot_id": [ { "id": "CSH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DML2", "type": "external" } ], "mass": 25020.0, "length": 217, "protein_name": "Chorionic somatomammotropin hormone 1", "gene_name": "CSH1", "organism": "Human", "refseq_name": "chorionic somatomammotropin hormone 1 precursor", "refseq_ac": [ { "id": "NP_001308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308", "type": "external" } ], "gene_names_uniprotkb": "CSH1", "gene_names_refseq": "CS-1; CSA; CSH1; CSMT; GHB3; PL; hCS-1; hCS-A", "protein_names_uniprotkb": "Chorionic somatomammotropin hormone 1; Choriomammotropin; Lactogen; PL; Placental lactogen", "protein_names_refseq": "Chorionic somatomammotropin hormone 2; choriomammotropin; chorionic somatomammotropin A; chorionic somatomammotropin hormone 1 precursor; chorionic somatomammotropin-1; growth hormone B3; placental lactogen", "tax_id": 9606, "disease": "", "pathway": " (hsa:1442); (R-HSA-1170546); (R-HSA-982772)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "12907755;14642004;15082796;1549776;15767667;16546209;16840534;18473352;18488018;1948064;19927328;20053995;22649370;2744760;2825030;32500948;3349036;34601001;438159;4712450;5286363;593368;6208192;6300056;7169009;7691587;8188682;8343952;9030599;9058373", "class_list": "", "function": "A role for CSH1 haploinsufficiency in the etiology of growth retardation, [RefSeq, PubMed]; Obesity and regulation of human placental lactogen production in pregnancy. Review article, [RefSeq, PubMed]; Plasmin generates vasoinhibin-like peptides by cleaving prolactin and placental lactogen., [RefSeq, PubMed]; Produced only during pregnancy and is involved in stimulating lactation, fetal growth and metabolism. Does not interact with GHR but only activates PRLR through zinc-induced dimerization., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, although the ratio of 1 to 2 increases by term. Mutations in this gene result in placental lactogen deficiency and Silver-Russell syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "P01243;Q0VDB1;Q14407", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0005131 growth hormone receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0031904 endosome lumen;GO:0031982 vesicle", "go_biological_process": "GO:0031667 response to nutrient levels;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0048513 animal organ development;GO:0060396 growth hormone receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P0DML2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMU7-1", "uniprot_id": [ { "id": "CT456_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMU7", "type": "external" } ], "mass": 21232.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A6", "gene_name": "CT45A6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CT45A6; CT45-6", "gene_names_refseq": "", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A6; Cancer/testis antigen 45-6; Cancer/testis antigen 45A6", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060211); (hsa:441521); (hsa:541465)", "pathway_count": 3, "publication_count": 1, "publication_id_list": "15905330", "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": "Q8N7B7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DMU7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMU9-1", "uniprot_id": [ { "id": "CT45A_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMU9", "type": "external" } ], "mass": 21145.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A10", "gene_name": "CT45A10", "organism": "Human", "refseq_name": "cancer/testis antigen family 45 member A10", "refseq_ac": [ { "id": "NP_001278456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278456", "type": "external" } ], "gene_names_uniprotkb": "CT45A10", "gene_names_refseq": "CT45A10", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A10; Cancer/testis antigen 45A10", "protein_names_refseq": "cancer/testis antigen family 45 member A10", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723631)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "27869121;28063628;29393594;29632046;31429579;32938616;33691108;34019948", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K842;B7ZMC5;Q6NSH3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P0DMU9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22792-1", "uniprot_id": [ { "id": "CPN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P22792", "type": "external" } ], "mass": 60557.0, "length": 545, "protein_name": "Carboxypeptidase N subunit 2", "gene_name": "CPN2", "organism": "Human", "refseq_name": "carboxypeptidase N subunit 2 precursor", "refseq_ac": [ { "id": "NP_001073982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073982", "type": "external" } ], "gene_names_uniprotkb": "CPN2; ACBP", "gene_names_refseq": "ACBP; CPN2", "protein_names_uniprotkb": "Carboxypeptidase N subunit 2; Carboxypeptidase N 83 kDa chain; Carboxypeptidase N large subunit; Carboxypeptidase N polypeptide 2; Carboxypeptidase N regulatory subunit", "protein_names_refseq": "carboxypeptidase N 83 kDa chain; carboxypeptidase N large subunit; carboxypeptidase N regulatory subunit; carboxypeptidase N subunit 2 precursor; carboxypeptidase N, polypeptide 2, 83kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:1370); (R-HSA-977606)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10531307;1067618;11694537;11939578;12055245;1386357;14760718;16079145;16192651;16335952;16999828;17182573;17505110;21052031;21788512;22802338;23090970;23487775;2378615;2420889;2465906;2466593;2481448;25576301;26860443;27726376;27862975;293688;293746;29391424;29557506;2956252;29671580;2971659;29741879;301546;31154438;31222486;31844290;32938616;3408501;34171305;35051231;35580925;36284347;37074911;3848661;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8345200;8495193;8786315;9038722;978134", "class_list": "", "function": "Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Real-time PCR and western blotting show the following CPN2 expression: minimal in MDA-MB-468 cells but obvious in MDA-MB-231 and MCF7 cells. MDA-MB-231 breast cancer cell lines were selected for the control group and CPN2 was knocked out for the experimental group., [RefSeq, PubMed]; The 83 kDa subunit binds and stabilizes the catalytic subunit at 37 degrees Celsius and keeps it in circulation. Under some circumstances it may be an allosteric modifier of the catalytic subunit., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 8645, "biomarker_type": "", "glycan_count": 35, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RPE7;Q86SU4;Q8N5V4", "ec_number_list": [], "go_molecular_function": "GO:0030234 enzyme regulator activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P22792-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43320-1", "uniprot_id": [ { "id": "CRBB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P43320", "type": "external" } ], "mass": 23380.0, "length": 205, "protein_name": "Beta-crystallin B2", "gene_name": "CRYBB2", "organism": "Human", "refseq_name": "beta-crystallin B2", "refseq_ac": [ { "id": "NP_000487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000487", "type": "external" } ], "gene_names_uniprotkb": "CRYBB2; CRYB2A; CRYB2", "gene_names_refseq": "CCA2; CRYB2A; CRYB2; CRYBB2; CTRCT3; D22S665", "protein_names_uniprotkb": "Beta-crystallin B2; Beta-B2 crystallin; Beta-crystallin Bp", "protein_names_refseq": "CTA-221G9.7; beta-B2 crystallin; beta-crystallin B2; beta-crystallin Bp; eye lens structural protein", "tax_id": 9606, "disease": "muscular disease (Disease Ontology:DOID:0080000); cataract 3 multiple types (Disease Ontology:DOID:0110269); lipid metabolism disorder (Disease Ontology:DOID:3146); cataract (Disease Ontology:DOID:83); brain disease (Disease Ontology:DOID:936)", "pathway": " (hsa:1415)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10634616;10930324;12060738;1521468;17327390;25576301;25645385;26992070;28839118;29259299;29386872;30429286;31523120;3170571;31844290;32938616;33043033;34171305;34341513;36905841;37238733;37379524;38924206;8175657;8224918;8443605;8999933;9158139", "class_list": "", "function": "ATCUN-like Copper Site in betaB2-Crystallin Plays a Protective Role in Cataract-Associated Aggregation., [RefSeq, PubMed]; CRYbetaB2 enhances tumorigenesis through upregulation of nucleolin in triple negative breast cancer., [RefSeq, PubMed]; Characterization of betaB2-crystallin tryptophan mutants reveals two different folding states in solution., [RefSeq, PubMed]; Conformational stability of the deamidated and mutated human betaB2-crystallin., [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, is part of a gene cluster with beta-A4, beta-B1, and beta-B3. A chain-terminating mutation was found to cause type 2 cerulean cataracts. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB]; Insight into Pathogenic Mechanism Underlying the Hereditary Cataract Caused by betaB2-G149V Mutation. 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": 2, "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": "Q9UCM8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity;GO:0005212 structural constituent of eye lens", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P43320-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49711-1", "uniprot_id": [ { "id": "CTCF_HUMAN", "url": "https://www.uniprot.org/uniprot/P49711", "type": "external" } ], "mass": 82785.0, "length": 727, "protein_name": "Transcriptional repressor CTCF", "gene_name": "CTCF", "organism": "Human", "refseq_name": "transcriptional repressor CTCF isoform 2", "refseq_ac": [ { "id": "NP_001177951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177951", "type": "external" } ], "gene_names_uniprotkb": "CTCF", "gene_names_refseq": "CFAP108; CTCF; FAP108; MRD21", "protein_names_uniprotkb": "Transcriptional repressor CTCF; 11-zinc finger protein; CCCTC-binding factor; CTCFL paralog", "protein_names_refseq": "11 zinc finger transcriptional repressor; 11-zinc finger protein; CCCTC-binding factor (zinc finger protein); CTCFL paralog; transcriptional repressor CTCF isoform 2; transcriptional repressor CTCF", "tax_id": 9606, "disease": "female breast cancer (Disease Ontology:DOID:0050671); autosomal dominant intellectual developmental disorder 21 (Disease Ontology:DOID:0070051); childhood acute lymphocytic leukemia (Disease Ontology:DOID:0080144); breast cancer (Disease Ontology:DOID:1612); basal cell carcinoma (Disease Ontology:DOID:2513); skin squamous cell carcinoma (Disease Ontology:DOID:3151); breast carcinoma (Disease Ontology:DOID:3459); skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:10664); (R-HSA-5617472); (R-HSA-9943962)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10777502;10921920;11237011;11274398;11356022;11507205;11743158;11744694;11782357;12191639;15867264;15960975;16079151;16095617;16107875;16549775;16595548;16815976;16878130;16949368;17027977;17081983;17143291;17185360;17350655;17428788;17547437;1756725;17603073;17660710;17713478;17761849;17827499;17851529;18347100;18378692;18413740;18452278;18550811;18654629;18669648;18781158;19115252;19232136;19322193;19608861;19747919;1975088;19782034;19854132;20068231;20085832;20453063;21406692;21899694;22569366;22705304;22879880;23219899;23285124;23408615;23534758;23630040;23746550;24174538;24312487;24366607;24586203;25101834;25135475;25218447;25576301;2570724;25880248;25913784;26154972;26321640;26768311;26992070;27600516;28286735;28319062;28533432;28832583;28834231;29242379;29393594;29493099;29557506;29632046;29786170;30429286;30779550;31844290;31848261;32128389;32157095;32265295;32357974;32387766;32522876;32938616;32983136;33298915;33392160;33592498;33691108;33968037;34019948;34087483;34211107;34405274;34509645;34932366;35580925;36010968;36241641;36284347;38757482;38774923;38810696;38951485;40914422;6261960;7488013;7501971;7831296;7906964;7908827;8649389;8674428;8759021;9218805;9272954;9407128;9482740;9591631", "class_list": "", "function": "CCCTC-binding factor suppresses alpha-2-macroglobulin transcription to improve vascular endothelial cell functions in lower extremity arteriosclerosis obliterans., [RefSeq, PubMed]; CTCF and BORIS-mediated autophagy regulation via alternative splicing of BNIP3L in breast cancer., [RefSeq, PubMed]; CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment. Publication Status: Online-Only, [RefSeq, PubMed]; Chromatin binding factor that binds to DNA sequence specific sites and regulates the 3D structure of chromatin (PubMed:16949368, PubMed:18347100, PubMed:18654629, PubMed:19322193). Binds together strands of DNA, thus forming chromatin loops, and anchors DNA to cellular structures, such as the nuclear lamina (PubMed:18347100, PubMed:18654629, PubMed:19322193). Defines the boundaries between active and heterochromatic DNA via binding to chromatin insulators, thereby preventing interaction between promoter and nearby enhancers and silencers (PubMed:18347100, PubMed:18654629, PubMed:19322193). Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus (PubMed:16107875, PubMed:16815976, PubMed:17827499). On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2 (By similarity). Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory (By similarity). Regulates asynchronous replication of IGF2/H19 (By similarity). Plays a critical role in gene silencing over considerable distances in the genome (By similarity). Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones (PubMed:18413740). Inversely, binding to target sites is prevented by CpG methylation (PubMed:18413740). Plays an important role in chromatin remodeling (PubMed:18413740). Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping (PubMed:12191639). Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription (PubMed:12191639). When bound to chromatin, it provides an anchor point for nucleosomes positioning (PubMed:12191639). Seems to be essential for homologous X-chromosome pairing (By similarity). May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation (PubMed:11743158). May play a role in preventing the propagation of stable methylation at the escape genes from X-inactivation (PubMed:11743158). Involved in sister chromatid cohesion (PubMed:12191639). Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites (PubMed:18550811). Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (PubMed:26321640). Acts as a transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene (PubMed:18413740, PubMed:8649389, PubMed:9591631). Also binds to the PLK and PIM1 promoters (PubMed:12191639). Acts as a transcriptional activator of APP (PubMed:9407128). Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression (PubMed:18347100, PubMed:19322193). Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription (By similarity). Seems to act as tumor suppressor (PubMed:12191639)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; METTL3 aggravates cell damage induced by Streptococcus pneumoniae via the NEAT1/CTCF/MUC19 axis., [RefSeq, PubMed]; This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5MC38;Q53XI7;Q59EL8", "ec_number_list": [], "go_molecular_function": "GO:0043035 chromatin insulator sequence binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000775 chromosome, centromeric region;GO:0000793 condensed chromosome", "go_biological_process": "GO:0071459 protein localization to chromosome, centromeric region;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:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P49711-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54108-1", "uniprot_id": [ { "id": "CRIS3_HUMAN", "url": "https://www.uniprot.org/uniprot/P54108", "type": "external" } ], "mass": 27630.0, "length": 245, "protein_name": "Cysteine-rich secretory protein 3", "gene_name": "CRISP3", "organism": "Human", "refseq_name": "cysteine-rich secretory protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001177915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177915", "type": "external" } ], "gene_names_uniprotkb": "CRISP3", "gene_names_refseq": "Aeg2; CRISP-3; CRISP3; CRS3; SGP28; dJ442L6.3", "protein_names_uniprotkb": "Cysteine-rich secretory protein 3; CRISP-3; SGP28; Specific granule protein of 28 kDa", "protein_names_refseq": "cysteine-rich secretory protein 3 isoform 2; specific granule protein (28 kDa)", "tax_id": 9606, "disease": "", "pathway": " (hsa:10321); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "11237011;15461460;23650620;29393594;29557506;29741879;30354034;30459171;30609035;30779550;31154438;32157095;35051231;37074911;38879857;8601434;8665901;8692836", "class_list": "", "function": "EP300 promotes tumor stemness via epigenetic activation of CRISP3 leading to lobaplatin resistance in triple-negative breast cancer., [RefSeq, PubMed]; In the presence of varicocoele, there is a marked increase in seminal CRISP-3 levels. Surgical intervention (varicocelectomy) decreases CRISP-3 levels and improves semen quality., [RefSeq, PubMed]; In this study, we found obvious differences in the expression of CRISP3 between different mammary carcinoma cells, which is related to the prognosis of patients with mammary carcinoma, [RefSeq, PubMed]; This gene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antigen 5 and pathogenesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antigen 5 and pathogenesis-related 1 proteins domain, a hinge region, and a C-terminal ion channel regulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eight disulfide bonds, a distinguishing characteristic of this family. This gene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This gene is upregulated in certain types of prostate cancer. 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K9S1;B2R8I8;Q15512;Q3MJ82;Q53FA9;Q5JW83;Q9H108", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0042581 specific granule;GO:0035580 specific granule lumen", "go_biological_process": "GO:0006952 defense response;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P54108-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59037-1", "uniprot_id": [ { "id": "CU084_HUMAN", "url": "https://www.uniprot.org/uniprot/P59037", "type": "external" } ], "mass": 8510.0, "length": 77, "protein_name": "Putative uncharacterized protein encoded by LINC00313", "gene_name": "LINC00313", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00313; C21orf84; NCRNA00313", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00313", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "12036297", "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": "Q3KNU0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P59037-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60606-1", "uniprot_id": [ { "id": "CTXN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P60606", "type": "external" } ], "mass": 9045.0, "length": 82, "protein_name": "Cortexin-1", "gene_name": "CTXN1", "organism": "Human", "refseq_name": "cortexin-1", "refseq_ac": [ { "id": "NP_996664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996664", "type": "external" } ], "gene_names_uniprotkb": "CTXN1; CTXN", "gene_names_refseq": "CTXN1; CTXN", "protein_names_uniprotkb": "Cortexin-1", "protein_names_refseq": "cortexin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:404217)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "29557506", "class_list": "", "function": "May mediate extracellular or intracellular signaling of cortical neurons during forebrain development., [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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P60606-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03060-5", "uniprot_id": [ { "id": "CREM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03060", "type": "external" } ], "mass": 37006.0, "length": 345, "protein_name": "cAMP-responsive element modulator", "gene_name": "CREM", "organism": "Human", "refseq_name": "cAMP-responsive element modulator isoform 23", "refseq_ac": [ { "id": "NP_001254491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254491", "type": "external" } ], "gene_names_uniprotkb": "CREM", "gene_names_refseq": "CREM-2; CREM; ICER; hCREM-2", "protein_names_uniprotkb": "cAMP-responsive element modulator; ICER; Inducible cAMP early repressor", "protein_names_refseq": "CREM 2alpha-b protein; CREM 2beta-a protein; cAMP response element modulator; cAMP-responsive element modulator isoform 23; inducible cAMP early repressor ICER", "tax_id": 9606, "disease": "congenital myasthenic syndrome 3C (Disease Ontology:DOID:0110664); congenital myasthenic syndrome 3B (Disease Ontology:DOID:0110665); congenital myasthenic syndrome 3A (Disease Ontology:DOID:0110666); alcohol use disorder (Disease Ontology:DOID:1574); transient cerebral ischemia (Disease Ontology:DOID:224); congenital myasthenic syndrome (Disease Ontology:DOID:3635); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1390)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10373550;11044457;12397208;14511788;1461747;16143638;18220336;18669648;20068231;22544926;23186163;26992070;27600516;27920218;28228285;28832583;28834231;29242379;29508533;29632711;29786170;30315122;31937595;31998317;32157095;32161166;32387766;32502341;32938616;32983136;33141586;33298915;33912179;33936100;33968037;34211107;34509645;34561969;34932366;35051231;35580925;36177809;36536372;37628737;37938771;38199433;38499948;7916662;8206879;8404858;8622971", "class_list": "", "function": "Cardiac-specific overexpression of CREM-IbDeltaC-X via CRISPR/Cas9 in mice presents a new model of atrial cardiomyopathy with spontaneous atrial fibrillation., [RefSeq, PubMed]; Decreased SUV39H1 at the promoter region leads to increased CREMalpha and accelerates autoimmune response in CD4[+] T cells from patients with systemic lupus erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Determining the expression levels of CSF-1 and OCT4, CREM-1, and protamine in testicular biopsies of adult Klinefelter patients: Their possible correlation with spermatogenesis., [RefSeq, PubMed]; May play a role in the regulation of the circadian clock: acts as a transcriptional repressor of the core circadian component PER1 by directly binding to cAMP response elements in its promoter., [UniProtKB]; Methylation Status of cAMP-responsive Element Modulator (CREM) Gene in Infertile Men and Its Association with Sperm Parameters., [RefSeq, PubMed]; Novel Aspects of cAMP-Response Element Modulator (CREM) Role in Spermatogenesis and Male Fertility. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator that binds the cAMP response element (CRE), a sequence present in many viral and cellular promoters. Isoforms are either transcriptional activators or repressors. Plays a role in spermatogenesis and is involved in spermatid maturation (PubMed:10373550)., [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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K014;A8K3J7;A8K6A1;A8MPQ2;B4DXC1;C9J785;C9JZ10;E9PAR4;E9PHM1;O75519;Q14501;Q14503;Q14504;Q14505;Q14506;Q15731;Q16114;Q16116;Q5T9H7;Q5W1A6;Q5W1A7;Q5W1A8;Q5W1A9;Q5W1B0;Q5W1B2;Q7Z2Q6;Q8IVD4;Q96AG7;Q9NZ98;Q9NZ99;Q9NZB9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:1990589 ATF4-CREB1 transcription factor complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q03060-5", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05D32-1", "uniprot_id": [ { "id": "CTSL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05D32", "type": "external" } ], "mass": 52999.0, "length": 466, "protein_name": "CTD small phosphatase-like protein 2", "gene_name": "CTDSPL2", "organism": "Human", "refseq_name": "CTD small phosphatase-like protein 2", "refseq_ac": [ { "id": "NP_057480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057480", "type": "external" } ], "gene_names_uniprotkb": "CTDSPL2; HSPC058; HSPC129; SCP4", "gene_names_refseq": "CTDSPL2; HSPC058; HSPC129; SCP4", "protein_names_uniprotkb": "CTD small phosphatase-like protein 2; 3.1.3.16; CTDSP-like 2; SCP4; Small C-terminal domain phosphatase 4; Small CTD phosphatase 4", "protein_names_refseq": "CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2; CTD small phosphatase-like protein 2; CTDSP-like 2; small C-terminal domain phosphatase 4; small CTD phosphatase 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:51496)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;16533400;17081983;18669648;18691976;19413330;19608861;19651622;19664995;19690332;20068231;20932329;21406692;22544926;23186163;23481700;24715725;25418920;25576301;25645385;25802875;25880248;25892735;26154972;26674342;26811146;26920047;26992070;27600516;27920218;28218747;28228285;28506762;28832583;28834231;28851713;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29786170;30315122;30429286;30484775;31217245;31844290;32157095;32357974;32387766;32488085;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33968037;34087483;34171305;34185709;34211107;34405274;34509645;34813892;34932366;35021089;35051231;35580925;36010968;36215666;36241641;36284347;37309586;37938771", "class_list": "", "function": "Expression significantly increased in skeletal muscle of chronic kidney disease patients, [RefSeq, PubMed]; Hypermethylation of CTDSPL2 prior to necrotizing enterocolitis onset., [RefSeq, PubMed]; Increases epsilon- and gamma-globin gene expression during erythroid differentiation Publication Status: Online-Only, [RefSeq, PubMed]; Proteomic screening was conducted to identify binding partners of CTDSPL2 in nuclear extract through immunoprecipitation of CTDSPL2 with its associated., [RefSeq, PubMed]; SCP4 is a unique chromatin-associated, Ser5-preferential CTD phosphatase that preferentially distributes to transcriptionally silenced gene regions and may participate in gene regulation during erythroid differentiation., [RefSeq, PubMed]; SCP4-STK35/PDIK1L complex is a dual phospho-catalytic signaling dependency in acute myeloid leukemia., [RefSeq, PubMed]; Serine/threonine phosphatase that promotes gluconeogenesis by dephosphorylating FOXO1 and FOXO3A, promoting their nuclear retention and enhancing their transcriptional activity on PCK1 and G6PC1, key enzymes in hepatic gluconeogenesis (PubMed:28851713). Essential for proper embryonic skeletal development by regulating chondrocyte survival through dephosphorylation of FOXO3 (By similarity). By maintaining FOXO3 in its active, dephosphorylated form, inhibits excessive apoptosis of chondrocytes, which is essential for normal endochondral ossification and cartilage formation (By similarity)., [UniProtKB, PubMed, UniProtKB]; The phosphatase CTDSPL2 is phosphorylated in mitosis and a target for restraining tumor growth and motility in pancreatic cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3ZTU1;Q6AI06;Q8IYI9;Q9NVT2;Q9NZX8;Q9P030", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0060348 bone development;GO:0051216 cartilage development;GO:0045722 positive regulation of gluconeogenesis;GO:0003430 growth plate cartilage chondrocyte growth;GO:0048706 embryonic skeletal system development", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q05D32-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14999-1", "uniprot_id": [ { "id": "CUL7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14999", "type": "external" } ], "mass": 191161.0, "length": 1698, "protein_name": "Cullin-7", "gene_name": "CUL7", "organism": "Human", "refseq_name": "cullin-7 isoform 2", "refseq_ac": [ { "id": "NP_055595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055595", "type": "external" } ], "gene_names_uniprotkb": "CUL7; KIAA0076", "gene_names_refseq": "3M1; CUL-7; CUL7; KIAA0076; dJ20C7.5", "protein_names_uniprotkb": "Cullin-7; CUL-7", "protein_names_refseq": "cullin-7 isoform 2", "tax_id": 9606, "disease": "3-M syndrome (Disease Ontology:DOID:0060241)", "pathway": " (hsa:9820); (R-HSA-381038); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 240, "publication_id_list": "10.1101/2023.09.13.557529;10535940;10597293;10601334;10811609;10827079;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12204115;12481031;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;12904573;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15466936;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15964813;16140746;16142236;16171779;16401342;16461360;16539657;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17298945;17332328;17497243;17547437;17675530;17785452;18093314;18206966;18498745;18662542;18664523;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20068231;20139075;21282569;21447816;21463634;21572988;21737058;21778237;21863050;21940857;22306028;22466964;22537386;22544926;2261476;22869377;22898188;22959436;23018678;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24362026;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25469497;25531226;25576301;25645385;25752541;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27862975;27920218;28115426;28218747;28228285;28832583;28834231;28855257;28904123;29153394;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30429286;30610225;30833945;31154438;31217245;31844290;31848261;31998317;32005965;32157095;32161166;32265295;32284348;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33298915;33392160;33444648;33592498;33633747;33912179;33936100;33968037;34078123;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;35982156;36010968;36215666;36241641;36284347;36304472;37217939;37938771;7590364;8666242;9037597;9380723;9450183;9473480;9668046;9790970;9887101;9891082", "class_list": "", "function": "Core component of the 3M and Cul7-RING(FBXW8) complexes, which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:12481031, PubMed:12904573, PubMed:21572988, PubMed:21737058, PubMed:24793695, PubMed:35982156). Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity (PubMed:21572988, PubMed:21737058, PubMed:24793695). It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695). The Cul7-RING(FBXW8) complex alone lacks ubiquitination activity and does not promote polyubiquitination and proteasomal degradation of p53/TP53 (PubMed:16547496, PubMed:17332328, PubMed:35982156). However it mediates recruitment of p53/TP53 for ubiquitination by neddylated CUL1-RBX1 (PubMed:35982156). Interaction with CUL9 is required to inhibit CUL9 activity and ubiquitination of BIRC5 (PubMed:24793696). The Cul7-RING(FBXW8) complex also mediates ubiquitination and consequent degradation of target proteins such as GORASP1, IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026). Ubiquitination of GORASP1 regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). Acts as a regulator in trophoblast cell epithelial-mesenchymal transition and placental development (PubMed:20139075). While the Cul7-RING(FBXW8) and the 3M complexes are associated and involved in common processes, CUL7 and the Cul7-RING(FBXW8) complex may have additional functions. Probably plays a role in the degradation of proteins involved in endothelial proliferation and/or differentiation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification and verification of the prognostic value of CUL7 in colon adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two 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": 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": 1, "reported_glycation": 0, "reported_snv": 18, "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": "B4DYZ0;F5H0L1;Q5T654", "ec_number_list": [], "go_molecular_function": "GO:0160072 ubiquitin ligase complex scaffold activity", "go_cellular_component": "GO:0031467 Cul7-RING ubiquitin ligase complex;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0001570 vasculogenesis;GO:0006508 proteolysis;GO:0001890 placenta development;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "Q14999-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15828-1", "uniprot_id": [ { "id": "CYTM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15828", "type": "external" } ], "mass": 16511.0, "length": 149, "protein_name": "Cystatin-M", "gene_name": "CST6", "organism": "Human", "refseq_name": "cystatin-M precursor", "refseq_ac": [ { "id": "NP_001314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001314", "type": "external" } ], "gene_names_uniprotkb": "CST6", "gene_names_refseq": "CST6; ECTD15", "protein_names_uniprotkb": "Cystatin-M; Cystatin-6; Cystatin-E", "protein_names_refseq": "cystatin 6; cystatin M/E; cystatin-E; cystatin-M precursor; cystatin-M; cysteine proteinase inhibitor", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 4B (Disease Ontology:DOID:0060713); ectodermal dysplasia 15 (Disease Ontology:DOID:0111651)", "pathway": " (hsa:1474)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11348457;12839564;23090970;24190977;29242379;29393594;29530995;30397120;30425301;30524438;30833945;31154438;31222486;31844290;32350084;32983136;33043033;34087483;34171305;34211107;34815788;35051231;35580925;35881476;36010968;8995380;9099741", "class_list": "", "function": "A loss-of-function variant in the human CST6 gene, which causes a novel autosomal recessive hypotrichosis syndrome, [RefSeq, PubMed]; CST6 protein and peptides inhibit breast cancer bone metastasis by suppressing CTSB activity and osteoclastogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; CST6 suppresses osteolytic bone disease in multiple myeloma by blocking osteoclast differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; High CST6 expression is associated with lymph-node metastasis in Triple-Negative Breast Cancer., [RefSeq, PubMed]; High affinity inhibitor for cathepsin L, cathepsin L2 (cathepsin V), and legumain (PubMed:30425301). Involved in the regulation of epidermal cornification, and hair follicle morphogenesis and maintenance (PubMed:30425301)., [UniProtKB, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 3, "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": "Q540N7", "ec_number_list": [], "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0001533 cornified envelope", "go_biological_process": "GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q15828-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2VPK5-1", "uniprot_id": [ { "id": "CTU2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2VPK5", "type": "external" } ], "mass": 56107.0, "length": 515, "protein_name": "Cytoplasmic tRNA 2-thiolation protein 2", "gene_name": "CTU2", "organism": "Human", "refseq_name": "cytoplasmic tRNA 2-thiolation protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001012777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012777", "type": "external" } ], "gene_names_uniprotkb": "CTU2; C16orf84; NCS2", "gene_names_refseq": "C16orf84; CTU2; MFRG; NCS2; UPF0432", "protein_names_uniprotkb": "Cytoplasmic tRNA 2-thiolation protein 2; Cytosolic thiouridylase subunit 2", "protein_names_refseq": "cytoplasmic tRNA 2-thiolation protein 2 isoform 1; cytoplasmic tRNA 2-thiolation protein 2; cytosolic thiouridylase subunit 2 homolog", "tax_id": 9606, "disease": "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MONDO:MONDO:0020647)", "pathway": " (hsa:348180); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;17081983;18567810;18669648;18767875;19017811;19413330;19414587;19651622;19690332;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23186163;23301498;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25916855;26160102;26310293;26633546;27055666;27920218;28514659;28832583;28904123;29242379;29557506;30429286;30779550;31301155;31481669;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32897882;33392160;33691108;33912179;33936100;33968037;33981976;34087483;35051231;36241641;36610787;37938771;38630355;9430663;9851972", "class_list": "", "function": "Activation of CTU2 expression by LXR promotes the development of hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Identifies the product of this gene as being involved in tRNA modification., [RefSeq, PubMed]; Our data establish a recognizable CTU2-linked autosomal recessive syndrome in humans characterized by defective thiolation of the wobble uridine. The potential deleterious consequences for the translational efficiency and fidelity during development as a mechanism for pathogenicity represent an attractive target of future investigations. Erratum:[Hum Mutat. 2021 Feb;42(2):219. doi: 10.1002/humu.24157. PMID: 33559988], [RefSeq, PubMed]; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position., [UniProtKB, PubMed, HAMAP, UniProtKB]; This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. 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": 4, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RXK0;Q0P511;Q66K78;Q6P4C8;Q86SV4", "ec_number_list": [], "go_molecular_function": "GO:0016783 sulfurtransferase activity;GO:0000049 tRNA binding;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0002143 tRNA wobble position uridine thiolation;GO:0034227 tRNA thio-modification;GO:0002098 tRNA wobble uridine modification;GO:0032447 protein urmylation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q2VPK5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T3F8-1", "uniprot_id": [ { "id": "TM63B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T3F8", "type": "external" } ], "mass": 94958.0, "length": 832, "protein_name": "Mechanosensitive cation channel TMEM63B", "gene_name": "TMEM63B", "organism": "Human", "refseq_name": "mechanosensitive cation channel TMEM63B", "refseq_ac": [ { "id": "NP_001305721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305721", "type": "external" } ], "gene_names_uniprotkb": "TMEM63B; C6orf110", "gene_names_refseq": "C6orf110; DEE118; TMEM63B; hTMEM63B", "protein_names_uniprotkb": "Mechanosensitive cation channel TMEM63B; Transmembrane protein 63B; hTMEM63B", "protein_names_refseq": "CSC1-like protein 2; mechanosensitive cation channel TMEM63B", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 118 (Disease Ontology:DOID:0061176); central nervous system disease (Disease Ontology:DOID:331)", "pathway": " (hsa:55362)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18578522;18669648;18767875;19901323;23186163;24715725;29557506;31092671;31217245;31243992;31844290;32157095;32350084;32357974;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34357683;35051231;35580925;36010968;36284347;37421948;37543036;38127458;38570680;39217145;39424995;39531497;39716028", "class_list": "", "function": "Mechanosensitive cation channel with low conductance and high activation threshold (PubMed:37543036, PubMed:38127458). Osmosensitive cation channel preferentially activated by hypotonic stress (PubMed:37543036, PubMed:38127458). Also acts as a phospholipid scramblase in response to changes in membrane structure: upon changes in membrane curvature and thickness, alters its conformation and translocates phospholipids, such as phosphatidylcholine and sphingomyelin, thereby controlling plasma membrane lipid distribution (PubMed:39217145, PubMed:39424995, PubMed:39716028). Forms a heterodimer with SLC19A2, which mediates phospholipid scramblase activity following Ca(2+) stimulation (By similarity). Expressed in excitatory neurons of the subfornical organ and functions as a thirst receptor that mediates neuronal response to hyperosmolality to drive thirst and drinking behavior (By similarity). Facilitates intestinal motility by promoting proliferation of intestinal stem cells (By similarity). Essential for the baby's first breath and respiration throughout life (PubMed:38127458). Upon lung inflation conducts cation currents in alveolar type 1 and 2 cells triggering lamellar body exocytosis and surfactant secretion into airspace (PubMed:38127458). Acts as an osmosensor in cochlear outer hair cells (OHCs) where it mediates calcium influx and regulatory volume decrease response (By similarity). Required for the maintenance of OHC morphology, OHC survival and normal hearing (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Overexpression of TMEM63B in HEK293T cells significantly enhanced cell migration and wound healing., [RefSeq, PubMed]; Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration., [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": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B9EGU3;Q5T3F9;Q6AHX4;Q6P5A0;Q8N219;Q8NDE1;Q9NSG5", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005227 calcium-activated cation channel activity;GO:0017128 phospholipid scramblase activity;GO:0008381 mechanosensitive monoatomic ion channel activity;GO:0140135 mechanosensitive monoatomic cation channel activity;GO:1990760 osmolarity-sensing monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0042756 drinking behavior;GO:0007605 sensory perception of sound;GO:0006887 exocytosis;GO:0036335 intestinal stem cell homeostasis;GO:0160069 surfactant secretion", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q5T3F8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DQ2-3", "uniprot_id": [ { "id": "CRBG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DQ2", "type": "external" } ], "mass": 330633.0, "length": 2970, "protein_name": "Very large A-kinase anchor protein", "gene_name": "CRYBG3", "organism": "Human", "refseq_name": "very large A-kinase anchor protein", "refseq_ac": [ { "id": "NP_705833", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_705833", "type": "external" } ], "gene_names_uniprotkb": "CRYBG3", "gene_names_refseq": "CRYBG3; DKFZp667G2110; vlAKAP", "protein_names_uniprotkb": "Very large A-kinase anchor protein; Beta/gamma crystallin domain-containing protein 3; vlAKAP", "protein_names_refseq": "beta-gamma crystallin domain containing 3; beta/gamma crystallin domain-containing protein 3; very large A-kinase anchor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:131544)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;23481700;24275569;25097019;25576301;25645385;26992070;27862975;27869121;27920218;28514659;28657654;28832583;28834231;28855257;29242379;29393594;29493099;29557506;29769354;29786170;30315122;30379171;30429286;31154438;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33809929;33912179;33968037;34171305;34932366;35051231;35246511;35494241;35580925;36010968;36215666;36240223;36284347;38665916", "class_list": "glycogene", "function": "Anchoring protein that mediates the subcellular compartmentation of protein kinase A (PKA)., [UniProtKB, PubMed]; Ionizing radiation-induced long noncoding RNA CRYBG3 regulates YAP/TAZ through mechanotransduction. Publication Status: Online-Only, [RefSeq, PubMed]; Long Non-Coding RNA CRYBG3 Promotes Lung Cancer Metastasis via Activating the eEF1A1/MDM2/MTBP Axis. 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": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3037, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DLE8;F6VHI2;Q4G0V8;Q7Z4R9;Q86VD0;Q8N262;Q8N7F1;Q8NDQ8", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0051018 protein kinase A binding;GO:0005212 structural constituent of eye lens", "go_cellular_component": "GO:0032991 protein-containing complex", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q68DQ2-3", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.1100000001001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTX7-1", "uniprot_id": [ { "id": "CTSR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTX7", "type": "external" } ], "mass": 54092.0, "length": 472, "protein_name": "Cation channel sperm-associated protein 4", "gene_name": "CATSPER4", "organism": "Human", "refseq_name": "cation channel sperm-associated protein 4", "refseq_ac": [ { "id": "NP_937770", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937770", "type": "external" } ], "gene_names_uniprotkb": "CATSPER4", "gene_names_refseq": "CATSPER4", "protein_names_uniprotkb": "Cation channel sperm-associated protein 4; CatSper4", "protein_names_refseq": "cation channel sperm-associated protein 4; ion channel CatSper4", "tax_id": 9606, "disease": "", "pathway": " (hsa:378807); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11237011;11595941;12932298;17227845;17347248;17460039;19343178;20144758;20546612;20648059;21412338;21412339;23530196;26989199;29557506;29769354;31844290;32502341;34171305;35051231;9452476", "class_list": "", "function": "Catsper4 has a single channel-forming domain, a pore-loop with the consensus sequence TxDxW, & a coiled-coil protein-protein interaction domain in the C-terminal tail. CatSpers 1,2,3 & 4 may interact directly or indirectly to form a functional tetramer. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte., [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": 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": "A1A4W6;Q5VY71", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005227 calcium-activated cation channel activity;GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005886 plasma membrane;GO:0001669 acrosomal vesicle;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q7RTX7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7A3-1", "uniprot_id": [ { "id": "CTU1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7A3", "type": "external" } ], "mass": 36450.0, "length": 348, "protein_name": "Cytoplasmic tRNA 2-thiolation protein 1", "gene_name": "CTU1", "organism": "Human", "refseq_name": "cytoplasmic tRNA 2-thiolation protein 1", "refseq_ac": [ { "id": "NP_660275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660275", "type": "external" } ], "gene_names_uniprotkb": "CTU1; ATPBD3; NCS6", "gene_names_refseq": "ATPBD3; CTU1; NCS6", "protein_names_uniprotkb": "Cytoplasmic tRNA 2-thiolation protein 1; 2.7.7.-; ATP-binding domain-containing protein 3; Cancer-associated gene protein; Cytoplasmic tRNA adenylyltransferase 1", "protein_names_refseq": "ATP binding domain 3; ATP-binding domain-containing protein 3; cancer-associated gene protein; cancer-associated protein; cytoplasmic tRNA 2-thiolation protein 1; cytoplasmic tRNA adenylyltransferase 1; cytosolic thiouridylase subunit 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:90353); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10430867;10982862;11027153;11111046;12403464;15861136;15870694;15994936;16043508;16424344;16964243;17071714;18567810;18669648;18691976;19017811;19414587;20068231;20123966;20308323;20354154;20584901;20877624;21059936;21131277;22344696;22424782;22591353;22995836;23042678;23048041;23186163;23381944;23481700;23604283;24126054;24204302;24715725;24901367;25261850;25404562;25916855;26154972;26160102;26310293;26375851;26811146;27055666;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29508533;29557506;29632046;29632711;29786170;30315122;30524438;31481669;31530632;31844290;31937595;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;35051231;35561310;35580925;36010968;36610787;37217939;9430663;9851972", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). Directly binds tRNAs and probably acts by catalyzing adenylation of tRNAs, an intermediate required for 2-thiolation. It is unclear whether it acts as a sulfurtransferase that transfers sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wobble position., [UniProtKB, PubMed, HAMAP]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K558;Q96GZ7", "ec_number_list": [ { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" } ], "go_molecular_function": "GO:0000049 tRNA binding;GO:0016779 nucleotidyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0002144 cytosolic tRNA wobble base thiouridylase complex", "go_biological_process": "GO:0002143 tRNA wobble position uridine thiolation;GO:0034227 tRNA thio-modification;GO:0002098 tRNA wobble uridine modification;GO:0032447 protein urmylation", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q7Z7A3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XQ3-1", "uniprot_id": [ { "id": "CTSR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XQ3", "type": "external" } ], "mass": 46422.0, "length": 398, "protein_name": "Cation channel sperm-associated protein 3", "gene_name": "CATSPER3", "organism": "Human", "refseq_name": "cation channel sperm-associated protein 3", "refseq_ac": [ { "id": "NP_821138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_821138", "type": "external" } ], "gene_names_uniprotkb": "CATSPER3", "gene_names_refseq": "CACRC; CATSPER3", "protein_names_uniprotkb": "Cation channel sperm-associated protein 3; Ca(v)-like protein; CatSper3; One-repeat calcium channel-like protein", "protein_names_refseq": "ca(v)-like protein; calcium channel repeat containing 1; cation channel sperm-associated protein 3; one-repeat calcium channel-like protein; putative ion channel CatSper3", "tax_id": 9606, "disease": "", "pathway": " (hsa:347732); (R-HSA-1300642)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11595941;12646162;12932298;17227845;17347248;17460039;20144758;20648059;21412338;21412339;23530196;26989199;30779550;35051231;36010968;39894887;9452476", "class_list": "", "function": "Catsper3 has a single channel-forming domain, a pore-loop with the consensus sequence TxDxW, & a coiled-coil protein-protein interaction domain in the C-terminal tail. CatSpers 1,2,3 & 4 may interact directly or indirectly to form a functional tetramer. Publication Status: Online-Only, [RefSeq, PubMed]; PMID: 12646162 concludes Alu repeats interfere with splicing of DCOHM and CAVL such that transcripts containing exons of both genes exist., [RefSeq, PubMed]; Pore-forming subunit of the CatSper complex, a sperm-specific voltage-gated calcium channel that plays a central role in calcium-dependent physiological responses essential for successful fertilization, such as sperm hyperactivation, acrosome reaction and chemotaxis towards the oocyte., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q86XS6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0001669 acrosomal vesicle;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q86XQ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUR6-1", "uniprot_id": [ { "id": "CRERF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUR6", "type": "external" } ], "mass": 72149.0, "length": 639, "protein_name": "CREB3 regulatory factor", "gene_name": "CREBRF", "organism": "Human", "refseq_name": "CREB3 regulatory factor isoform 2", "refseq_ac": [ { "id": "NP_001161865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161865", "type": "external" } ], "gene_names_uniprotkb": "CREBRF; C5orf41", "gene_names_refseq": "C5orf41; CREBRF; LRF", "protein_names_uniprotkb": "CREB3 regulatory factor; LRF; Luman recruitment factor", "protein_names_refseq": "CREB3 regulatory factor isoform 2; UPF0474 protein C5orf41; adult retina protein; luman recruitment factor; luman-recruiting factor; luman/CREB3 recruitment factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:153222); (R-HSA-8874211)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "11237011;11353085;11830526;12138176;16236796;16469704;16940180;17117415;17712038;17875199;18391022;19883396;20546900;21767813;22705851;23256041;23481700;24126059;25576301;25625847;25880248;25955804;26810754;26992070;27278737;27600516;27846572;27920218;28228285;29242379;29351928;29557506;29632711;30315122;30429286;30484775;31844290;32157095;32387766;32938616;32983136;33717175;33912179;33968037;33981976;34171305;34932366;35051231;35580925;36215666;36241641;36284347;36284436;36352773;37217939;37610607;38627436;9271389", "class_list": "", "function": "Acts as a negative regulator of the endoplasmic reticulum stress response or unfolded protein response (UPR). Represses the transcriptional activity of CREB3 during the UPR. Recruits CREB3 into nuclear foci., [UniProtKB, PubMed]; Findings provide new insight into the molecular mechanisms underlying hypoxia-induced glioblastoma cell autophagy and indicate that the hypoxia/CREBRF/CREB3/ATG5 pathway plays a central role in malignant glioma progression., [RefSeq, PubMed]; MiR-181d-5p, which is upregulated in fetal growth restriction placentas, inhibits trophoblast fusion via CREBRF. Erratum:[J Assist Reprod Genet. 2024 Jan;41(1):231. doi: 10.1007/s10815-023-02970-1. PMID: 37856054], [RefSeq, PubMed]; Multivariate analysis of a missense variant in CREBRF reveals associations with measures of adiposity in people of Polynesian ancestries., [RefSeq, PubMed]; The impact of CREBRF rs373863828 Pacific-variant on infant body composition. Publication Status: Online-Only, [RefSeq, PubMed]; The protective effect of rs373863828 on type 2 diabetes does not operate through a body composition pathway in adult Samoans., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3DFH2;B3KW49;D3DQM2;F5GXN3;Q5HYG4;Q5HYK0;Q86YR3;Q8IZG1", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:1900102 negative regulation of endoplasmic reticulum unfolded protein response;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8IUR6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IX95-1", "uniprot_id": [ { "id": "CTGE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IX95", "type": "external" } ], "mass": 18015.0, "length": 158, "protein_name": "Putative cTAGE family member 3", "gene_name": "CTAGE3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CTAGE3P; CTAGE3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative cTAGE family member 3; Protein cTAGE-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12839582;32357974", "class_list": "", "function": "Tumor-associated antigen., [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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8IX95-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZJ3-1", "uniprot_id": [ { "id": "CPMD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZJ3", "type": "external" } ], "mass": 206702.0, "length": 1885, "protein_name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8", "gene_name": "CPAMD8", "organism": "Human", "refseq_name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 precursor", "refseq_ac": [ { "id": "NP_056507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056507", "type": "external" } ], "gene_names_uniprotkb": "CPAMD8; KIAA1283", "gene_names_refseq": "ASGD8; CPAMD8; K-CAP; VIP", "protein_names_uniprotkb": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8", "protein_names_refseq": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 precursor; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8; alpha-2 macroglobulin family protein VIP", "tax_id": 9606, "disease": "anterior segment dysgenesis (Disease Ontology:DOID:0060648); anterior segment dysgenesis 8 (Disease Ontology:DOID:0080613)", "pathway": " (hsa:27151)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;15177561;19913121;24715725;27839872;27862975;29557506;30429286;30451992;30459171;31020640;31154438;31844290;31848261;32085876;32157095;32274568;32350084;32387766;32938616;33392160;34154991;35051231;35251023;35580925", "class_list": "", "function": "A novel member of the complement 3/alpha(2)-macroglobulin (C3/alpha(2)M) family named CPAMD8 has been identified and characterized., [RefSeq, PubMed]; Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma., [RefSeq, PubMed]; Biallelic variants in CPAMD8 are associated with primary open-angle glaucoma and primary angle-closure glaucoma., [RefSeq, PubMed]; CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study delineates a unique form of recessive anterior segment dysgeneses (ASD) and defines a role for CPAMD8, a protein of unknown function, in anterior segment development, implying another pathway for the pathogenicity of ASD, [RefSeq, PubMed]; This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]., [RefSeq]", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q8NC09;Q9ULD7", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8IZJ3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEA5-1", "uniprot_id": [ { "id": "CS018_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEA5", "type": "external" } ], "mass": 24151.0, "length": 215, "protein_name": "Uncharacterized protein C19orf18", "gene_name": "C19orf18", "organism": "Human", "refseq_name": "uncharacterized protein C19orf18 precursor", "refseq_ac": [ { "id": "NP_689687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689687", "type": "external" } ], "gene_names_uniprotkb": "C19orf18", "gene_names_refseq": "C19orf18", "protein_names_uniprotkb": "Uncharacterized protein C19orf18", "protein_names_refseq": "uncharacterized protein C19orf18 precursor; uncharacterized protein C19orf18", "tax_id": 9606, "disease": "", "pathway": " (hsa:147685)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "35051231;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NEA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXC6-2", "uniprot_id": [ { "id": "CSN9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXC6", "type": "external" } ], "mass": 6211.0, "length": 57, "protein_name": "COP9 signalosome complex subunit 9", "gene_name": "COPS9", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 9 isoform 2", "refseq_ac": [ { "id": "NP_001156896", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156896", "type": "external" } ], "gene_names_uniprotkb": "COPS9; MYEOV2", "gene_names_refseq": "COPS9; CSNAP; MYEOV2", "protein_names_uniprotkb": "COP9 signalosome complex subunit 9; CSN acidic protein; CSNAP; Myeloma-overexpressed gene 2 protein", "protein_names_refseq": "COP9 signalosome complex subunit 9 isoform 2; COP9 signalosome complex subunit 9; CSN acidic protein; helicase/primase complex protein; myeloma overexpressed 2; myeloma-overexpressed gene 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:150678)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "23776465;24275569;26456823;27618915;29557506;30192525;31367012;31844290;33392160;33968037;34272906", "class_list": "", "function": "CSNAP, the smallest CSN subunit, modulates proteostasis through cullin-RING ubiquitin ligases., [RefSeq, PubMed]; Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Plays a role in cell proliferation., [UniProtKB, PubMed]; Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification. Publication Status: Online-Only, [RefSeq, PubMed]; Negatively regulates neddylation of proteins, including ribosoaml protein RPL11., [UniProtKB, PubMed]; The disordered PCI-binding human proteins CSNAP and DSS1 have diverged in structure 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": 1, "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": "Q8N110", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0008180 COP9 signalosome", "go_biological_process": "GO:1904750 negative regulation of protein localization to nucleolus;GO:0008284 positive regulation of cell population proliferation;GO:0034644 cellular response to UV;GO:2000435 negative regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8WXC6-2", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99895-1", "uniprot_id": [ { "id": "CTRC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99895", "type": "external" } ], "mass": 29484.0, "length": 268, "protein_name": "Chymotrypsin-C", "gene_name": "CTRC", "organism": "Human", "refseq_name": "chymotrypsin-C preproprotein", "refseq_ac": [ { "id": "NP_009203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009203", "type": "external" } ], "gene_names_uniprotkb": "CTRC; CLCR", "gene_names_refseq": "CLCR; CTRC; ELA4", "protein_names_uniprotkb": "Chymotrypsin-C; 3.4.21.2; Caldecrin", "protein_names_refseq": "caldecrin; chymotrypsin-C preproprotein; chymotrypsinogen C; elastase 4; elastase IV; serum calcium decreasing factor", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); pervasive developmental disorder (Disease Ontology:DOID:0060040); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); pancreatitis (Disease Ontology:DOID:4989); blepharospasm (Disease Ontology:DOID:529)", "pathway": " (hsa:11330); (R-HSA-9925561)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "18059268;18172691;19407484;21920023;22580415;22942235;23135764;23430245;25576301;29557506;32948427;35594281;37321941;38876922;8635596;9538241", "class_list": "", "function": "Clinical interpretation of SPINK1 and CTRC variants in pancreatitis., [RefSeq, PubMed]; Novel chymotrypsin C (CTRC) variants from real-world genetic testing of pediatric chronic pancreatitis cases., [RefSeq, PubMed]; Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity., [UniProtKB, PubMed]; Risk of chronic pancreatitis in carriers of loss-of-function CTRC variants: A meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Risk of chronic pancreatitis in carriers of the c.180C>T (p.Gly60=) CTRC variant: case-control studies and meta-analysis., [RefSeq, PubMed]; This gene encodes a member of the peptidase S1 family. The encoded protein is a serum calcium-decreasing factor that has chymotrypsin-like protease activity. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [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": 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": 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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K082;O00765;Q9NUH5", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.21.70", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.70", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.17.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.15", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.20", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q99895-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRF8-1", "uniprot_id": [ { "id": "CPPED_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRF8", "type": "external" } ], "mass": 35548.0, "length": 314, "protein_name": "Serine/threonine-protein phosphatase CPPED1", "gene_name": "CPPED1", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase CPPED1 isoform b", "refseq_ac": [ { "id": "NP_001092925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092925", "type": "external" } ], "gene_names_uniprotkb": "CPPED1; CSTP1", "gene_names_refseq": "CPPED1; CSTP1", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase CPPED1; 3.1.3.16; Calcineurin-like phosphoesterase domain-containing protein 1; Complete S-transactivated protein 1", "protein_names_refseq": "calcineurin-like phosphoesterase domain-containing protein 1; complete S-transactivated protein 1; serine/threonine-protein phosphatase CPPED1 isoform b; serine/threonine-protein phosphatase CPPED1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55313); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "15991289;18452278;22645359;23186163;23301498;23650620;23799035;23939394;25418920;26154972;26758079;26992070;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29193784;29242379;29437277;29493099;29557506;29786170;30315122;30410026;30429286;31092671;31154438;31844290;31848261;32157095;32161166;32488085;32938616;32983136;33298915;33392160;33968037;34019948;34357683;35051231;35580925;36284347;39894887;8692836", "class_list": "", "function": "CPPED1 is involved in glucose uptake in adipocytes, [RefSeq, PubMed]; Functions regulated by CPPED1 in trophoblasts at choriodecidual interphase have a role in the induction of term labour, but it may be independent of AKT1., [RefSeq, PubMed]; Protein phosphatase that dephosphorylates AKT family kinase specifically at 'Ser-473', blocking cell cycle progression and promoting cell apoptosis. May play an inhibitory role in glucose uptake by adipocytes., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DQ68;Q6MZY9;Q9H9M9;Q9NUT6", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0035578 azurophil granule lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9BRF8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BU40-6", "uniprot_id": [ { "id": "CRDL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BU40", "type": "external" } ], "mass": 52026.0, "length": 456, "protein_name": "Chordin-like protein 1", "gene_name": "CHRDL1", "organism": "Human", "refseq_name": "chordin-like protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001137453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137453", "type": "external" } ], "gene_names_uniprotkb": "CHRDL1; NRLN1", "gene_names_refseq": "CHL; CHRDL1; MGC1; MGCN; NRLN1; VOPT; dA141H5.1", "protein_names_uniprotkb": "Chordin-like protein 1; Neuralin-1; Neurogenesin-1; Ventroptin", "protein_names_refseq": "chordin-like protein 1 isoform 1 precursor; chordin-like protein 1; neuralin-1; neurogenesin-1; ventroptin", "tax_id": 9606, "disease": "megalocornea (Disease Ontology:DOID:0060305)", "pathway": " (hsa:91851); (R-HSA-201451); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 102, "publication_id_list": "10026136;10077652;10218588;10458166;10512690;10587654;10614670;10681634;10712517;10810289;10898936;10912521;10951195;10990447;11016919;11121043;11158056;11158580;11250653;11264294;11278251;11316783;11441185;11509558;11522292;11571290;11606061;11714695;11739083;11751371;11779505;11788658;12151385;12241545;12379487;12466191;12519765;12592392;12810533;12821673;12857866;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;16385451;16672363;17029022;17047378;17068149;17249697;17311849;17312271;17356069;17985932;18587495;22284829;2476804;2479552;26091039;26976638;28423564;29786170;31844290;32157095;33592498;35510812;36749222;38253038;39462350;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7644468;7683646;7689487;7791754;8119126;8653785;8781553;8817670;8893010;8894645;8964575;9136927;9436979;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development., [UniProtKB, PubMed, PubMed]; Bioinformatics identify the role of chordin-like 1 in thyroid cancer., [RefSeq, PubMed]; CHRDL1 inhibits OSCC metastasis via MAPK signaling-mediated inhibition of MED29. Publication Status: Online-Only, [RefSeq, PubMed]; Finally, in vivo experiments confirmed that CHRDL1 acted as a tumor suppressor gene in suppressing tumor growth and metastasis Erratum:[Oncotarget. 2017 Jul 18;8(29):48526. doi: 10.18632/oncotarget.19303. Wu, Ding-Wei [corrected to Wu, Wei-ding]. PMID: 28753909], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Reports the cloning of chick ventroptin and its importance in topographic retinotectal projection, [RefSeq, PubMed]; Results show that Chrdl1 expression is upregulated in numerous breast cancer cells following TGF-beta stimulation and demonstrated that Chrdl1 acts as an inhibitor of BMP4-induced migration and invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Study on the expression and function of chordin-like 1 in oral squamous cell carcinoma., [RefSeq, PubMed]; This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 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": 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": 1, "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": "B1AKD0;B4DMP3;D3DUY6;E9PGS5;Q539E4;Q9Y3H7", "ec_number_list": [], "go_molecular_function": "GO:0050431 transforming growth factor beta binding;GO:0036122 BMP binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0000578 embryonic axis specification;GO:0098976 excitatory chemical synaptic transmission;GO:0030154 cell differentiation;GO:0048167 regulation of synaptic plasticity;GO:0030509 BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9BU40-6", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H112-1", "uniprot_id": [ { "id": "CST11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H112", "type": "external" } ], "mass": 16506.0, "length": 138, "protein_name": "Cystatin-11", "gene_name": "CST11", "organism": "Human", "refseq_name": "cystatin-11 isoform 2 precursor", "refseq_ac": [ { "id": "NP_543020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543020", "type": "external" } ], "gene_names_uniprotkb": "CST11; CST8L", "gene_names_refseq": "CST11; CST8L; CTES2; SC13; dJ322G13.6", "protein_names_uniprotkb": "Cystatin-11", "protein_names_refseq": "SC13delta; cystatin-11 isoform 2 precursor; cystatin-related epididymal-specific protein; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:140880)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "12072414", "class_list": "", "function": "CST11 is an antimicrobial peptide that has shown to be effective against E. coli., [RefSeq, PubMed]; Has antibacterial activity against the Gram-negative bacteria E.coli. May play a role in sperm maturation and fertilization., [UniProtKB, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes an epididymal-specific protein shown to have antimicrobial activity against E. coli. Alternative splicing yields two variants encoding distinct isoforms. [provided by RefSeq, Sep 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q0VAF2;Q0VAF3;Q8WXU5;Q8WXU6;Q9H113", "ec_number_list": [], "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0061827 sperm head;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0036126 sperm flagellum", "go_biological_process": "GO:0050829 defense response to Gram-negative bacterium;GO:0030521 androgen receptor signaling pathway;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9H112-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HC73-1", "uniprot_id": [ { "id": "CRLF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HC73", "type": "external" } ], "mass": 42013.0, "length": 371, "protein_name": "Cytokine receptor-like factor 2", "gene_name": "CRLF2", "organism": "Human", "refseq_name": "cytokine receptor-like factor 2 isoform 2", "refseq_ac": [ { "id": "NP_001012288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012288", "type": "external" } ], "gene_names_uniprotkb": "CRLF2; CRL2; ILXR; TSLPR", "gene_names_refseq": "CRL2; CRLF2Y; CRLF2; TSLPR", "protein_names_uniprotkb": "Cytokine receptor-like factor 2; Cytokine receptor-like 2; IL-XR; TSLP receptor; Thymic stromal lymphopoietin protein receptor", "protein_names_refseq": "IL-XR; TSLP receptor; cytokine receptor CRL2 precusor; cytokine receptor-like factor 2 isoform 2; thymic stromal lymphopoietin protein receptor; thymic stromal-derived lymphopoietin receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64109); (R-HSA-1266695)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11237741;11418668;11474172;11564764;11728342;12184921;12889071;14593182;15353558;15749844;19864382;21105711;22464331;2317865;24190977;24417533;26301565;26974155;27423467;29139090;31918398;34171305;35051231;35306048;35537330;36642937;37364323;38862034;7489741;7514277;7719938;8128231;8266077;8702919;8709637;9233603;9398404;9553136;9715265", "class_list": "", "function": "CRLF2 overexpression results in reduced B-cell differentiation and upregulated E2F signaling in the Dp16 mouse model of Down syndrome., [RefSeq, PubMed]; High occurrence of CRLF2 abnormalities in Mexican children with B-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; Identification of amino acids in transmembrane domains of mutated cytokine receptor-like factor 2 and interleukin-7 receptor alpha required for constitutive signal transduction., [RefSeq, PubMed]; Receptor for thymic stromal lymphopoietin (TSLP). Forms a functional complex with TSLP and IL7R which is capable of stimulating cell proliferation through activation of STAT3 and STAT5. Also activates JAK2 (By similarity). Implicated in the development of the hematopoietic system., [UniProtKB, PubMed]; TSLP/TSLPR promotes renal fibrosis by activating STAT3 in renal fibroblasts., [RefSeq, PubMed]; The prognostic significance of CRLF2 expression at diagnosis in adult Ph-negative B-cell precursor acute lymphoblastic leukemia., [RefSeq, PubMed]; This gene encodes a member of the type I cytokine receptor family. The encoded protein is a receptor for thymic stromal lymphopoietin (TSLP). Together with the interleukin 7 receptor (IL7R), the encoded protein and TSLP activate STAT3, STAT5, and JAK2 pathways, which control processes such as cell proliferation and development of the hematopoietic system. Rearrangement of this gene with immunoglobulin heavy chain gene (IGH) on chromosome 14, or with P2Y purinoceptor 8 gene (P2RY8) on the same X or Y chromosomes is associated with B-progenitor acute lymphoblastic leukemia (ALL) and Down syndrome ALL. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 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": 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": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "J3QKD1;Q5G7M1;Q9H5R3", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0019955 cytokine binding;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0032754 positive regulation of interleukin-5 production;GO:0008284 positive regulation of cell population proliferation;GO:0019221 cytokine-mediated signaling pathway;GO:0033005 positive regulation of mast cell activation;GO:1904894 positive regulation of receptor signaling pathway via STAT", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9HC73-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJA2-1", "uniprot_id": [ { "id": "CRLS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJA2", "type": "external" } ], "mass": 32593.0, "length": 301, "protein_name": "Cardiolipin synthase (CMP-forming)", "gene_name": "CRLS1", "organism": "Human", "refseq_name": "cardiolipin synthase (CMP-forming) isoform 2", "refseq_ac": [ { "id": "NP_001120930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120930", "type": "external" } ], "gene_names_uniprotkb": "CRLS1; C20orf155; CLS1", "gene_names_refseq": "C20orf155; CLS1; CLS; COSPD57; CRLS1; GCD10; dJ967N21.6", "protein_names_uniprotkb": "Cardiolipin synthase (CMP-forming); 2.7.8.41; CLS; Protein GCD10 homolog", "protein_names_refseq": "cardiolipin synthase (CMP-forming) isoform 2; cardiolipin synthase (CMP-forming)", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 57 (Disease Ontology:DOID:0070430)", "pathway": " (hsa:54675); (R-HSA-1482925); (R-HSA-1483076)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10455175;10681567;11031251;11112443;11830583;12161451;12359733;12522102;15485873;15863501;16243729;16547353;16678169;16704971;16716149;16864775;18458083;20025994;20705608;22424782;23481700;24366607;24715725;25418920;25576301;25645385;25892735;26154972;26929215;26992070;27600516;27846572;27862975;28063628;28218747;28228285;28832583;28834231;29242379;2925608;29393594;29437277;29557506;29632046;29769354;29786170;30315122;30429286;30524438;30833945;31154438;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33717175;33912179;33936100;33968037;34171305;34211107;34509645;35051231;35147173;35580925;36010968;36215666;7060561;8300559;9188469", "class_list": "", "function": "A human candidate gene/cDNA for cardiolipin synthase, C20orf155, was identified., [RefSeq, PubMed]; Catalyzes the synthesis of cardiolipin (CL) (diphosphatidylglycerol) by specifically transferring a phosphatidyl group from CDP-diacylglycerol to phosphatidylglycerol (PG) (PubMed:16547353, PubMed:16678169, PubMed:16716149, PubMed:35147173). CL is a key phospholipid in mitochondrial membranes and plays important roles in maintaining the functional integrity and dynamics of mitochondria under both optimal and stress conditions (PubMed:35147173)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease. Erratum:[Hum Mol Genet. 2023 Mar 20;32(7):1236. doi: 10.1093/hmg/ddac294. PMID: 36563328], [RefSeq, PubMed]; HCLS1 protein was localized to the mitochondria when transiently expressed in COS-7 cells, [RefSeq, PubMed]; This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "D3DW09;E9PAT4;Q27RP0;Q69YQ5", "ec_number_list": [ { "id": "2.7.8.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.41", "type": "external" } ], "go_molecular_function": "GO:0043337 cardiolipin synthase (CMP-forming);GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity;GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0032049 cardiolipin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9UJA2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5P2-1", "uniprot_id": [ { "id": "CSAG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5P2", "type": "external" } ], "mass": 14430.0, "length": 127, "protein_name": "Chondrosarcoma-associated gene 2/3 protein", "gene_name": "CSAG2; CSAG3", "organism": "Human", "refseq_name": "chondrosarcoma-associated gene 2/3 protein isoform a", "refseq_ac": [ { "id": "NP_001123298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123298", "type": "external" } ], "gene_names_uniprotkb": "CSAG2; CSAG3; CSAG3A; TRAG3", "gene_names_refseq": "CSAG3A; CSAG3; CT24.2", "protein_names_uniprotkb": "Chondrosarcoma-associated gene 2/3 protein; CT24.2; Cancer/testis antigen 24.2; TRAG-3; Taxol-resistant-associated gene 3 protein", "protein_names_refseq": "CSAG family, member 3A; cancer/testis antigen 24.2; chondrosarcoma-associated gene 2/3 protein isoform a; chondrosarcoma-associated gene 2/3 protein; taxol resistance associated gene 3; taxol-resistant-associated gene 3 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723547); (hsa:389903)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "10095106;11237011", "class_list": "", "function": "Drug-resistance related protein, its expression is associated with the chemotherapy resistant and neoplastic phenotype. May also be linked to the malignant phenotype., [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": "O75605;Q0VDC3;Q96IU8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0009410 response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9Y5P2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60676-1", "uniprot_id": [ { "id": "CST8_HUMAN", "url": "https://www.uniprot.org/uniprot/O60676", "type": "external" } ], "mass": 16275.0, "length": 142, "protein_name": "Cystatin-8", "gene_name": "CST8", "organism": "Human", "refseq_name": "cystatin-8 precursor", "refseq_ac": [ { "id": "NP_001268659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268659", "type": "external" } ], "gene_names_uniprotkb": "CST8; CRES", "gene_names_refseq": "CRES; CST8; CTES5", "protein_names_uniprotkb": "Cystatin-8; Cystatin-related epididymal spermatogenic protein", "protein_names_refseq": "cystatin 8 (cystatin-related epididymal specific); cystatin-8 precursor; cystatin-related epididymal spermatogenic protein; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10047)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12193387;16740002;20565543;7619504", "class_list": "", "function": "Performs a specialized role during sperm development and maturation., [UniProtKB, UniProtKB, UniProtKB]; Studies show that cystatin-related epididymal spermatogenic protein is present in the sperm equatorial segment and becomes accessible to the extracellular environment during fertilization, [RefSeq, PubMed]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]; We show with phylogenetic relations that the CTES genes are clustered into three original groups, a testatin, a Cres, and a CstL1 group, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q2M2X6", "ec_number_list": [], "go_molecular_function": "GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0009986 cell surface", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O60676-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60519-1", "uniprot_id": [ { "id": "CRBL2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60519", "type": "external" } ], "mass": 13784.0, "length": 120, "protein_name": "cAMP-responsive element-binding protein-like 2", "gene_name": "CREBL2", "organism": "Human", "refseq_name": "cAMP-responsive element-binding protein-like 2", "refseq_ac": [ { "id": "NP_001301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001301", "type": "external" } ], "gene_names_uniprotkb": "CREBL2", "gene_names_refseq": "CREBL2", "protein_names_uniprotkb": "cAMP-responsive element-binding protein-like 2", "protein_names_refseq": "MHBs-binding protein 1; cAMP-responsive element-binding protein-like 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)", "pathway": " (hsa:1389)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "18063805;19054851;23077088;25418920;29393594;29557506;29786170;32983136;33298915;36939197;9693048", "class_list": "", "function": "Data indicate that LRP6, BCL2L14, DUSP16, CREBL2, and CDKN1B were involed in centromeric (12p11.21-12p13.2) deletion in ETV6-RUNX1 B-cell precursor acute lymphoblastic leukemia (BCP-ALL)., [RefSeq, PubMed]; Parathyroid hormone receptor-1 signaling aggravates hepatic fibrosis through upregulating cAMP response element-binding protein-like 2., [RefSeq, PubMed]; Probable regulator of CREB1 transcriptional activity which is involved in adipose cells differentiation. May also play a regulatory role in the cell cycle. Identification in a chromosomal region frequently deleted in various cancers suggests that it might act as a tumor suppressor., [UniProtKB, PubMed]; cAMP response element (CRE)-binding protein-like-2 (CREBL2) was identified in a search to find genes in a commonly deleted region on chromosome 12p13 flanked by ETV6 and CDKN1B genes, frequently associated with hematopoietic malignancies, as well as breast, non-small-cell lung and ovarian cancers. CREBL2 shares a 41% identity with CRE-binding protein (CREB) over a 48-base long region which encodes the bZip domain of CREB. The bZip domain consists of about 30 amino acids rich in basic residues involved in DNA binding, followed by a leucine zipper motif involved in protein dimerization. This suggests that CREBL2 encodes a protein with DNA binding capabilities. The occurance of CREBL2 deletion in malignancy suggests that CREBL2 may act as a tumor suppressor 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5BUM5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;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:0007165 signal transduction;GO:0030154 cell differentiation;GO:0033138 positive regulation of peptidyl-serine phosphorylation;GO:0045600 positive regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O60519-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C5K6-1", "uniprot_id": [ { "id": "CT18_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C5K6", "type": "external" } ], "mass": 3500.0, "length": 33, "protein_name": "Putative tumor antigen NA88-A", "gene_name": "VENTXP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "VENTXP1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative tumor antigen NA88-A; CT18; Cancer/testis antigen 18", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10790436", "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": "P0C5K6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16562-1", "uniprot_id": [ { "id": "CRIS2_HUMAN", "url": "https://www.uniprot.org/uniprot/P16562", "type": "external" } ], "mass": 27259.0, "length": 243, "protein_name": "Cysteine-rich secretory protein 2", "gene_name": "CRISP2", "organism": "Human", "refseq_name": "cysteine-rich secretory protein 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001135879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135879", "type": "external" } ], "gene_names_uniprotkb": "CRISP2; GAPDL5; TPX1", "gene_names_refseq": "CRISP-2; CRISP2; CT36; GAPDL5; TPX1; TSP1", "protein_names_uniprotkb": "Cysteine-rich secretory protein 2; CRISP-2; CT36; Cancer/testis antigen 36; Testis-specific protein TPX-1", "protein_names_refseq": "cancer/testis antigen 36; cysteine-rich secretory protein 2 isoform 1 precursor; glyceraldehyde-3-phosphate dehydrogenase-like 5; testicular tissue protein Li 43; testis specific protein 1 (probe H4-1 p3-1); testis-specific protein TPX-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7180)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "15734896;16759931;18550510;2613236;27517483;28698603;33146725;33624385;34440724;36284347;8665901", "class_list": "", "function": "CRISP2, CATSPER1 and PATE1 Expression in Human Asthenozoospermic Semen. Publication Status: Online-Only, [RefSeq, PubMed]; DNA methylation profiling identifies epigenetic differences between early versus late stages of diabetic chronic kidney disease., [RefSeq, PubMed]; Discovery and validation of novel biomarkers for detection of cervical cancer., [RefSeq, PubMed]; Low expression of CRISP2 protein rather than its mRNA was observed in the ejaculated spermatozoa from asthenoteratozoospermic patients as compared with normozoospermic males Erratum:[Asian J Androl. 2023 Nov 1;25(6):758. doi: 10.4103/aja202348. PMID: 37750804], [RefSeq, PubMed]; May regulate some ion channels' activity and thereby regulate calcium fluxes during sperm capacitation., [UniProtKB]; Polymorphisms within the CRISP2 gene have no significant association with male infertility. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TPX1 is a component of the sperm acrosome that remains associated with sperm after capacitation and acrosome reaction , and is relevant for sperm-oocyte interaction., [RefSeq, PubMed]; The integrated network analysis identified BRCA1 and CRISP2 differentially methylated regions (DMR) as the most central disease-associated DNA methylation biomarkers. Moreover, methylation changes at BRCA1 and CRISP2 specific CpG sites were consistently associated with subclinical atherosclerosis measures. Publication Status: Online-Only, [RefSeq, PubMed]; The protein level and localization of TPX1 were altered in patients with spermatogenic arrest and in infertile men with oligoasthenoteratospermia syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A8K8M0;Q53FF2;Q5U8Z9;Q7Z7B2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P16562-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20023-1", "uniprot_id": [ { "id": "CR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P20023", "type": "external" } ], "mass": 112916.0, "length": 1033, "protein_name": "Complement receptor type 2", "gene_name": "CR2", "organism": "Human", "refseq_name": "complement receptor type 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001006659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006659", "type": "external" } ], "gene_names_uniprotkb": "CR2; C3DR", "gene_names_refseq": "C3DR; CD21; CR2; CR; CVID7; SLEB9", "protein_names_uniprotkb": "Complement receptor type 2; Complement C3d receptor; Cr2; EBV receptor; Epstein-Barr virus receptor", "protein_names_refseq": "EBV receptor; complement component (3d/Epstein Barr virus) receptor 2; complement component 3d receptor 2; complement receptor type 2 isoform 1 precursor; complement receptor type 2", "tax_id": 9606, "disease": "common variable immunodeficiency 7 (Disease Ontology:DOID:0081150); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); systemic lupus erythematosus (Disease Ontology:DOID:9074); nasopharynx carcinoma (Disease Ontology:DOID:9261); systemic lupus erythematosus, susceptibility to, 9 (MONDO:MONDO:0012584)", "pathway": " (hsa:1380); (R-HSA-977606)", "pathway_count": 2, "publication_count": 131, "publication_id_list": "10.1101/2023.09.13.557529;10068037;10531307;1067618;11237011;11387479;11694537;11698449;11939578;12055245;12122212;12938232;1383329;1386357;1386409;16079145;16172256;16192651;16950392;16999828;1702139;1708808;17182573;17360460;17505110;17697703;18083107;1849076;19349973;21527715;21788512;22035880;22322005;22802338;23481700;23487775;24190977;2420889;2460635;2465906;2466593;24715725;2481448;25418920;25502872;2563370;25892735;26154972;26811146;26992070;27846572;27920218;28218747;28228285;2827171;2832506;28467828;28514659;28649982;28832583;28871256;28904123;29242379;293688;293746;29393594;29437277;29557506;2956252;29632046;29632711;2971659;29769354;29789417;30107486;301546;3016712;30410026;31217245;31844290;32265295;32350084;32502341;32983136;33141586;33298915;33717175;33868238;33912179;33936100;34357683;34433824;34509645;34623902;34932366;35051231;35154160;35580925;36971659;37074911;37833411;37938771;38287771;3848661;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;7753047;8345200;8390533;8495193;8786315;9029102;9038722;9634482;978134", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Epstein-Barr virus., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Complement receptor type 1 and 2 (CR1 and CR2) gene polymorphisms and plasma protein levels are associated with the Dengue disease severity. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and Characterization of chCR2, a Protein That Binds Chicken Complement Component 3d., [RefSeq, PubMed]; Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells., [RefSeq, PubMed]; Revisiting the Coreceptor Function of Complement Receptor Type 2 (CR2, CD21); Coengagement With the B-Cell Receptor Inhibits the Activation, Proliferation, and Antibody Production of Human B Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Serves as a receptor for various ligands including complement component CD3d, HNRNPU OR IFNA1 (PubMed:1849076, PubMed:21527715, PubMed:7753047). When C3d is bound to antigens, attaches to C3d on B-cell surface and thereby facilitates the recognition and uptake of antigens by B-cells (PubMed:21527715). This interaction enhances B-cell activation and subsequent immune responses. Forms a complex with several partners on the surface of B-cells including CD19, FCRL5 and CD81, to form the B-cell coreceptor complex that plays a crucial role in B-cell activation and signaling (PubMed:1383329, PubMed:30107486). Also induces specific intracellular signaling separately from the BCR and CD19 by activating the tyrosine kinase SRC, which then phosphorylates nucleolin/NCL and triggers AKT and GSK3 kinase activities in a SYK/CD19-independent manner (PubMed:12938232). Acts as a ligand for CD23 (FcepsilonRII), a low-affinity receptor for IgE, which is expressed on B-cells and other immune cells, and thus participates in the regulation of IgE production (PubMed:1386409)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Serves as a receptor for various ligands including complement component CD3d, HNRNPU OR IFNA1. When C3d is bound to antigens, attaches to C3d on B-cell surface and thereby facilitates the recognition and uptake of antigens by B-cells. This interaction enhances B-cell activation and subsequent immune responses. Forms a complex with several partners on the surface of B-cells including CD19, FCRL5 and CD81, to form the B-cell coreceptor complex that plays a crucial role in B-cell activation and signaling. Also induces specific intracellular signaling separately from the BCR and CD19 by activating the tyrosine kinase SRC, which then phosphorylates nucleolin/NCL and triggers AKT and GSK3 kinase activities in a SYK/CD19-independent manner. Acts as a ligand for CD23 (FcepsilonRII), a low-affinity receptor for IgE, which is expressed on B-cells and other immune cells, and thus participates in the regulation of IgE production., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The expansion of human T-bet(high)CD21(low) B cells is T cell dependent., [RefSeq, PubMed]; This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "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": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "risk", "glycan_count": 5, "disease_count": 5, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "C9JHD2;Q13866;Q14212;Q53EL2;Q5BKT9;Q5SR46;Q5SR48", "ec_number_list": [], "go_molecular_function": "GO:0034987 immunoglobulin receptor binding;GO:0004875 complement receptor activity;GO:0003677 DNA binding;GO:0004888 transmembrane signaling receptor activity;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006955 immune response;GO:0042113 B cell activation;GO:0060337 type I interferon-mediated signaling pathway;GO:0030183 B cell differentiation;GO:0046718 symbiont entry into host cell", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P20023-1", "record_type": "protein", "filter_code": "0000100.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50238-1", "uniprot_id": [ { "id": "CRIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50238", "type": "external" } ], "mass": 8533.0, "length": 77, "protein_name": "Cysteine-rich protein 1", "gene_name": "CRIP1", "organism": "Human", "refseq_name": "cysteine-rich protein 1", "refseq_ac": [ { "id": "NP_001302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001302", "type": "external" } ], "gene_names_uniprotkb": "CRIP1; CRIP; CRP1", "gene_names_refseq": "CRHP; CRIP1; CRIP; CRP-1; CRP1", "protein_names_uniprotkb": "Cysteine-rich protein 1; CRHP; CRIP; CRP-1; Cysteine-rich heart protein; Cysteine-rich intestinal protein; hCRHP", "protein_names_refseq": "cysteine-rich heart protein; cysteine-rich intestinal protein; cysteine-rich protein 1 (intestinal); cysteine-rich protein 1", "tax_id": 9606, "disease": "Becker disease (Disease Ontology:DOID:0081335); Thomsen disease (Disease Ontology:DOID:0081336); myotonia congenita (Disease Ontology:DOID:2106); myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:1396)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11466336;19608861;20068231;23481700;25502872;25576301;25802875;26154972;26811146;26992070;27503676;27726376;27846572;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29557506;29632711;29789417;30315122;30573663;30833945;31092671;31154438;31844290;31848261;32157095;32350084;32938616;32983136;33043033;33091337;33214551;34019948;34171305;34185709;34932366;35051231;35140819;35251023;35580925;35775648;37224580;37541772;38199044;7999070;9126610", "class_list": "", "function": "CRIP1 fosters MDSC trafficking and resets tumour microenvironment via facilitating NF-kappaB/p65 nuclear translocation in pancreatic ductal adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CRIP1 involves the pathogenesis of multiple myeloma via dual-regulation of proteasome and autophagy., [RefSeq, PubMed]; CRIP1 supports the growth and migration of AML-M5 subtype cells by activating Wnt/beta-catenin pathway., [RefSeq, PubMed]; CRIP1 suppresses BBOX1-mediated carnitine metabolism to promote stemness in hepatocellular carcinoma., [RefSeq, PubMed]; Comprehensive Analysis of CRIP1 in Patients with Ovarian Cancer, including ceRNA Network, Immune-Infiltration Pattern, and Clinical Benefit. Publication Status: Online-Only, [RefSeq, PubMed]; Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]., [RefSeq]; Seems to have a role in zinc absorption and may function as an intracellular zinc transport protein., [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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "H3BPI2;Q13628;Q53XY7;Q96J34", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042277 peptide binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0071493 cellular response to UV-B;GO:0060741 prostate gland stromal morphogenesis;GO:0006955 immune response;GO:0007507 heart development;GO:0010043 response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P50238-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53674-1", "uniprot_id": [ { "id": "CRBB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P53674", "type": "external" } ], "mass": 28023.0, "length": 252, "protein_name": "Beta-crystallin B1", "gene_name": "CRYBB1", "organism": "Human", "refseq_name": "beta-crystallin B1", "refseq_ac": [ { "id": "NP_001878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001878", "type": "external" } ], "gene_names_uniprotkb": "CRYBB1", "gene_names_refseq": "CATCN3; CRYBB1; CTRCT17", "protein_names_uniprotkb": "Beta-crystallin B1; Beta-B1 crystallin", "protein_names_refseq": "beta-B1 crystallin; beta-crystallin B1; eye lens structural protein", "tax_id": 9606, "disease": "cataract 17 multiple types (Disease Ontology:DOID:0110270); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:1414)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "12360425;14573871;15667225;16110300;17460281;21972112;23508780;26992070;29386872;29914532;32223445;33043033;33243271;33936100;34896472;37217939;37356717;8575764;8626774", "class_list": "", "function": "A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family., [RefSeq, PubMed]; Cataract-causing Y204X mutation of crystallin protein CRYbetaB1 promotes its C-terminal degradation and higher-order oligomerization., [RefSeq, PubMed]; Congenital cataract-causing mutation betaB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability., [RefSeq, PubMed]; Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]., [RefSeq]; Crystallins are the dominant structural components of the vertebrate eye lens., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005212 structural constituent of eye lens", "go_cellular_component": "", "go_biological_process": "GO:0007601 visual perception;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P53674-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2VPA4-1", "uniprot_id": [ { "id": "CR1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2VPA4", "type": "external" } ], "mass": 62714.0, "length": 569, "protein_name": "Complement component receptor 1-like protein", "gene_name": "CR1L", "organism": "Human", "refseq_name": "complement component receptor 1-like protein precursor", "refseq_ac": [ { "id": "NP_783641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783641", "type": "external" } ], "gene_names_uniprotkb": "CR1L", "gene_names_refseq": "CR1L", "protein_names_uniprotkb": "Complement component receptor 1-like protein; Complement C4b-binding protein CR-1-like protein", "protein_names_refseq": "complement C4b-binding protein CR-1-like protein; complement component (3b/4b) receptor 1-like; complement component receptor 1-like protein precursor; complement component receptor 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:1379)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;14687939;25502872;28228285;28832583;29242379;29557506;32983136;33392160;33912179;33936100;33968037;35051231;35580925", "class_list": "", "function": "CR1L transcript appears to be limited to hematopoietic and fetal lymphoid tissue., [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": 21, "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": "Q32MC9;Q8NEU7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0016020 membrane", "go_biological_process": "GO:0045959 negative regulation of complement activation, classical pathway;GO:0002456 T cell mediated immunity;GO:0030449 regulation of complement activation;GO:1903659 regulation of complement-dependent cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q2VPA4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BKX5-1", "uniprot_id": [ { "id": "ACTMP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BKX5", "type": "external" } ], "mass": 37779.0, "length": 351, "protein_name": "Actin maturation protease", "gene_name": "ACTMAP", "organism": "Human", "refseq_name": "actin maturation protease isoform 1", "refseq_ac": [ { "id": "NP_940878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940878", "type": "external" } ], "gene_names_uniprotkb": "ACTMAP; C19orf54", "gene_names_refseq": "ACTMAP; C19orf54", "protein_names_uniprotkb": "Actin maturation protease; 3.4.11.-; Actin aminopeptidase ACTMAP", "protein_names_refseq": "UPF0692 protein C19orf54; actin aminopeptidase ACTMAP; actin maturation protease isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:284325)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;18669648;20068231;23186163;25418920;28832583;28904123;31844290;32157095;33912179;34171305;35051231;36173861;38253038", "class_list": "", "function": "Actin maturation protease that specifically mediates the cleavage of immature acetylated N-terminal actin, thereby contributing to actin maturation (PubMed:36173861). Cleaves N-terminal acetylated methionine of immature cytoplasmic beta- and gamma-actins ACTB and ACTG1 after translation (PubMed:36173861). Cleaves N-terminal acetylated cysteine of muscle alpha-actins ACTA1, ACTC1 and ACTA2 after canonical removal of N-terminal methionine (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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MSZ5;B4DNU7", "ec_number_list": [ { "id": "3.4.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.-", "type": "external" } ], "go_molecular_function": "GO:0070005 cysteine-type aminopeptidase activity;GO:0004239 initiator methionyl aminopeptidase activity;GO:0004177 aminopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0016485 protein processing;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q5BKX5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5DJT8-1", "uniprot_id": [ { "id": "CT452_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5DJT8", "type": "external" } ], "mass": 21363.0, "length": 189, "protein_name": "Cancer/testis antigen family 45 member A2", "gene_name": "CT45A2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CT45A2; CT45-2", "gene_names_refseq": "", "protein_names_uniprotkb": "Cancer/testis antigen family 45 member A2; Cancer/testis antigen 45-2; Cancer/testis antigen 45A2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723680); (hsa:102723737); (hsa:728911)", "pathway_count": 3, "publication_count": 2, "publication_id_list": "15905330;24190977", "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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JRH3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5DJT8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JQC4-1", "uniprot_id": [ { "id": "CT47A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JQC4", "type": "external" } ], "mass": 30100.0, "length": 288, "protein_name": "Cancer/testis antigen 47A", "gene_name": "CT47A10; CT47A11; CT47A12; CT47A1; CT47A2; CT47A3; CT47A4; CT47A5; CT47A6; CT47A7; CT47A8; CT47A9", "organism": "Human", "refseq_name": "cancer/testis antigen 47A", "refseq_ac": [ { "id": "NP_001073606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073606", "type": "external" } ], "gene_names_uniprotkb": "CT47A10; CT47A11; CT47A12; CT47A1; CT47A2; CT47A3; CT47A4; CT47A5; CT47A6; CT47A7; CT47A8; CT47A9; CT47.10; CT47.11; CT47.12; CT47.1; CT47.2; CT47.3; CT47.4; CT47.5; CT47.6; CT47.7; CT47.8; CT47.9", "gene_names_refseq": "CT47.10; CT47A10; CT47", "protein_names_uniprotkb": "Cancer/testis antigen 47A; CT47; Cancer/testis antigen 47", "protein_names_refseq": "cancer/testis CT47 family, member 10; cancer/testis antigen 47A; cancer/testis antigen 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507170); (hsa:255313); (hsa:653282); (hsa:728036); (hsa:728042); (hsa:728049); (hsa:728062); (hsa:728072); (hsa:728075); (hsa:728082); (hsa:728090); (hsa:728096)", "pathway_count": 12, "publication_count": 5, "publication_id_list": "16382448;20112406;24715725;32938616;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": "Q8N747", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5JQC4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T4H9-1", "uniprot_id": [ { "id": "CSC10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T4H9", "type": "external" } ], "mass": 14851.0, "length": 136, "protein_name": "Putative uncharacterized protein encoded by MIR1915-HG", "gene_name": "MIR1915HG", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MIR1915HG; C10orf114; CASC10", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by MIR1915-HG; Cancer susceptibility 10 protein; Cancer susceptibility candidate gene 10 protein; MIR1915 host gene protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4M3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5T4H9-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09067-1", "uniprot_id": [ { "id": "HXB5_HUMAN", "url": "https://www.uniprot.org/uniprot/P09067", "type": "external" } ], "mass": 29434.0, "length": 269, "protein_name": "Homeobox protein Hox-B5", "gene_name": "HOXB5", "organism": "Human", "refseq_name": "homeobox protein Hox-B5", "refseq_ac": [ { "id": "NP_002138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002138", "type": "external" } ], "gene_names_uniprotkb": "HOXB5; HOX2A", "gene_names_refseq": "HHO.C10; HOX2A; HOX2; HOXB5; HU-1; Hox2.1", "protein_names_uniprotkb": "Homeobox protein Hox-B5; Homeobox protein HHO.C10; Homeobox protein Hox-2A; Homeobox protein Hu-1", "protein_names_refseq": "homeo box 2A; homeo box B5; homeobox protein HHO.C10; homeobox protein Hox-2A; homeobox protein Hox-B5; homeobox protein Hu-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3215)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "1355360;2576652;27862975;31844290;32387766;33456563;34118725;34230136;3453105;35051231;35170372;35580925;37938771;38253038;4075393;6091895", "class_list": "", "function": "CXCL12-mediated HOXB5 overexpression facilitates Colorectal Cancer metastasis through transactivating CXCR4 and ITGB3. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0020123 enhances the cisplatin resistance in non-small cell lung cancer cells partly by sponging miR-140-3p to regulate homeobox B5 (HOXB5)., [RefSeq, PubMed]; HOXB5 Confers Tamoxifen Resistance in Breast Cancer Cells and Promotes Tumor Aggression and Progression., [RefSeq, PubMed]; HOXB5 promotes the progression of breast cancer through wnt/beta-catenin pathway., [RefSeq, PubMed]; Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis., [UniProtKB]; This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [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": 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": "B2RC69;P09069;Q17RP4", "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:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0009952 anterior/posterior pattern specification;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P09067-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32927-1", "uniprot_id": [ { "id": "IL3RB_HUMAN", "url": "https://www.uniprot.org/uniprot/P32927", "type": "external" } ], "mass": 97336.0, "length": 897, "protein_name": "Cytokine receptor common subunit beta", "gene_name": "CSF2RB", "organism": "Human", "refseq_name": "cytokine receptor common subunit beta isoform 2 precursor", "refseq_ac": [ { "id": "NP_000386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000386", "type": "external" } ], "gene_names_uniprotkb": "CSF2RB; IL3RB; IL5RB", "gene_names_refseq": "CD131; CDw131; CSF2RB; IL3RB; IL5RB; SMDP5; betaGMR", "protein_names_uniprotkb": "Cytokine receptor common subunit beta; CDw131; GM-CSF/IL-3/IL-5 receptor common beta subunit", "protein_names_refseq": "GM-CSF/IL-3/IL-5 receptor common beta subunit; GM-CSF/IL-3/IL-5 receptor common beta-chain; beta common cytokine receptor; beta-GM-CSF receptor; colony stimulating factor 2 receptor beta common subunit; colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage); colony-stimulating factor-2 receptor, beta, low-affinity; cytokine receptor common subunit beta isoform 2 precursor; cytokine receptor common subunit beta; interleukin 3 receptor/granulocyte-macrophage colony stimulating factor 3 receptor, beta (high affinity)", "tax_id": 9606, "disease": "pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:1439); (R-HSA-512988); (R-HSA-5673001); (R-HSA-5683826); (R-HSA-5688849); (R-HSA-5688890); (R-HSA-912526)", "pathway_count": 7, "publication_count": 190, "publication_id_list": "10207047;10362354;10368295;10455108;10477686;10477722;10485905;10496952;10508167;10570274;10580105;10625644;10704825;10736232;10753826;10869344;10949031;10982827;11027663;11090077;11136978;11207369;11237011;11278984;11313946;11328862;11340297;11546808;11563989;11702783;12032311;12094235;12121613;12185598;12882447;1325798;1339284;1396555;1400495;1415726;14506247;1465135;14707138;1495999;15356145;1545823;15546878;1568474;15926889;16006481;16199866;1636732;16423266;16437163;16627759;16630564;16684964;16754968;1702217;1716764;17496061;17828305;17998941;18020944;1833064;1833065;18477386;18692472;18775330;18955570;1898081;1898771;19100526;19144824;19279408;1928448;19824815;19920141;20054143;20147294;20338813;20418254;20478380;2065657;21075760;21102635;21205713;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23069847;23103841;23303910;23443682;23481700;23526884;23575685;23590306;23684610;23922714;24190977;24743970;24897931;24937142;2515193;25219551;25424900;25502872;2555171;25645385;25781681;2587265;26085527;2610270;2681215;26992070;27543614;28778966;28832583;28834231;29242379;29314611;2995821;3037072;31135801;31844290;32350084;32938616;32983136;33043033;33589587;3366248;33784678;33936100;34185709;34433824;34631;34729943;34750506;35051231;35154160;35580925;3755136;3801783;6148751;7513165;7528537;7597036;7651724;7809086;7935463;7972015;8007942;8052307;8084588;8294403;8314870;8394845;8428971;8483502;8493579;8522976;8527267;8636114;8647804;8665852;8710374;8939933;8947042;9030599;9099679;9108392;9111318;9162089;9257712;9410898;9422786;9516124;9604935;9677359;9685210;9766809;9813380;9885561;9927426;9973406", "class_list": "", "function": "Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA (PubMed:1495999). In turn, participates in various signaling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, interacts constitutively with JAK1 and ligand binding leads to JAK1 stimulation and subsequent activation of the JAK-STAT pathway (PubMed:9516124)., [UniProtKB, PubMed, PubMed]; Discovery of a novel potentially transforming somatic mutation in CSF2RB gene in breast cancer., [RefSeq, PubMed]; Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis. Publication Status: Online-Only, [RefSeq, PubMed]; The IL-3, IL-5, and GM-CSF common receptor beta chain mediates oncogenic activity of FLT3-ITD-positive AML., [RefSeq, PubMed]; The Truncated Splice Variant of the Granulocyte-Macrophage-Colony-Stimulating Factor Receptor beta- Chain in Peripheral Blood Serves as Severity Biomarker of Respiratory Failure in Newborns., [RefSeq, PubMed]; The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5JZI1;Q6ICE0", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:0004896 cytokine receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0030526 granulocyte macrophage colony-stimulating factor receptor complex;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0038043 interleukin-5-mediated signaling pathway;GO:0038156 interleukin-3-mediated signaling pathway;GO:0007165 signal transduction;GO:0008284 positive regulation of cell population proliferation;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "P32927-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20774-1", "uniprot_id": [ { "id": "MIME_HUMAN", "url": "https://www.uniprot.org/uniprot/P20774", "type": "external" } ], "mass": 33922.0, "length": 298, "protein_name": "Mimecan", "gene_name": "OGN", "organism": "Human", "refseq_name": "mimecan isoform 2 precursor", "refseq_ac": [ { "id": "NP_054776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054776", "type": "external" } ], "gene_names_uniprotkb": "OGN; OIF; SLRR3A", "gene_names_refseq": "OGN; OG; OIF; SLRR3A", "protein_names_uniprotkb": "Mimecan; OIF; Osteoglycin; Osteoinductive factor", "protein_names_refseq": "corneal keratan sulfate proteoglycan; mimecan isoform 2 precursor; mimecan proteoglycan; osteoinductive factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4969); (R-HSA-2022854); (R-HSA-2022857); (R-HSA-3656225); (R-HSA-3656243); (R-HSA-3656244)", "pathway_count": 6, "publication_count": 71, "publication_id_list": "10206952;10373482;10491328;10504389;10802664;10931946;11017086;11030741;11042166;11042394;11230166;11237011;11283017;11588157;11821425;11901181;12218059;12888274;1463457;15013869;1522213;15340161;15486459;15560372;15620693;15647514;17021253;17120046;1714903;1794986;18452278;1907800;19159218;1928092;19838169;20232353;21907012;22940367;23234360;23252400;2372374;24190977;28228285;29393594;29557506;2971395;29741879;30315122;30429286;31844290;31848261;3196333;32157095;33622177;34357683;35051231;35494241;35850021;35908351;37074911;38034954;38549032;5822067;7213753;8333853;8611500;8920913;9405439;9417100;9521684;9597550", "class_list": "glycogene", "function": "Chrysophanol inhibits the osteoglycin/mTOR and activats NF2 signaling pathways to reduce viability and proliferation of malignant meningioma cells., [RefSeq, PubMed]; Increased proteolytic cleavage of osteoglycin is associated with a stable plaque phenotype and lower risk of cardiovascular events., [RefSeq, PubMed]; Induces bone formation in conjunction with TGF-beta-1 or TGF-beta-2., [UniProtKB, UniProtKB]; Osteoglycin (OGN) promotes tumorigenesis of pancreatic cancer cell via targeting ID4., [RefSeq, PubMed]; Serum osteoglycin is stable during various glycemic challenges in healthy men., [RefSeq, PubMed]; This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 306, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 63, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6FIB0;Q9UF90;Q9UNK5", "ec_number_list": [], "go_molecular_function": "GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005796 Golgi lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0048662 negative regulation of smooth muscle cell proliferation;GO:0060348 bone development;GO:0061975 articular cartilage development", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "P20774-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00268-1", "uniprot_id": [ { "id": "TAF4_HUMAN", "url": "https://www.uniprot.org/uniprot/O00268", "type": "external" } ], "mass": 110114.0, "length": 1085, "protein_name": "Transcription initiation factor TFIID subunit 4", "gene_name": "TAF4", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 4", "refseq_ac": [ { "id": "NP_003176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003176", "type": "external" } ], "gene_names_uniprotkb": "TAF4; TAF2C1; TAF2C; TAF4A; TAFII130; TAFII135", "gene_names_refseq": "MRD73; TAF(II)130; TAF(II)135; TAF2C1; TAF2C; TAF4A; TAF4; TAFII-130; TAFII-135; TAFII130; TAFII135", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 4; RNA polymerase II TBP-associated factor subunit C; TAF(II)130; TAF(II)135; TAFII-130; TAFII-135; TAFII130; TAFII135; TBP-associated factor 4; Transcription initiation factor TFIID 130 kDa subunit; Transcription initiation factor TFIID 135 kDa subunit", "protein_names_refseq": "RNA polymerase II TBP-associated factor subunit C; TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa; TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135 kD; TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD; TBP-associated factor 4; transcription initiation factor TFIID 130 kDa subunit; transcription initiation factor TFIID 135 kD subunit; transcription initiation factor TFIID 135 kDa subunit; transcription initiation factor TFIID subunit 4", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 73 (Disease Ontology:DOID:0061046)", "pathway": " (hsa:6874); (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": 160, "publication_id_list": "10024882;10199401;10373431;10435622;10500146;10570149;10594036;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11859374;11884399;12064478;12393879;12601814;12676794;12702766;12851404;12914926;1310361;14702041;15053879;15489290;15735663;15866171;15960975;16322561;17108107;17349958;17483474;17591690;18490454;19121998;1939271;19965871;20068230;20068231;20959462;21317932;22424782;23000554;23186163;23301498;23481700;23485397;23676219;24129315;24145406;2449431;24715725;24874608;25645385;26375851;26992070;27114449;28228285;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29493099;29557506;29786170;30059200;30379171;30429286;30524438;30620550;31154438;31492838;31844290;31848261;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33592498;33691108;33795473;33875846;33912179;33968037;34019948;34087483;34405274;34509645;34725712;34846842;35051231;35132862;35138101;35154160;35254053;35289036;35452682;35513511;35561310;35580925;35705054;35904126;36010968;36215666;37340703;37541260;38253038;38665916;38838015;39531497;39534244;40307207;40596516;7151173;7601352;7660122;7660129;7660130;8156590;8330735;8370526;8465201;8490964;8647434;8942982;8946909;9192867;9256425;9353262;9405375;9450929;9489704;9925639", "class_list": "", "function": "Alphaalpha-hub coregulator structure and flexibility determine transcription factor binding and selection in regulatory interactomes., [RefSeq, PubMed]; De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder., [RefSeq, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]., [RefSeq]; 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:10594036, PubMed:33795473, PubMed:8942982). TAF4 may maintain an association between the TFIID and TFIIA complexes, while bound to the promoter, together with TBP, during PIC assembly (PubMed:33795473). Potentiates transcriptional activation by the AF-2S of the retinoic acid, vitamin D3 and thyroid hormone (PubMed:9192867)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 26, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 26, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 26, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "A6NGD9;Q5TBP6;Q99721;Q9BR40;Q9BX42", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0017162 aryl hydrocarbon receptor binding", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0071339 MLL1 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:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "O00268-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTM9-1", "uniprot_id": [ { "id": "URM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTM9", "type": "external" } ], "mass": 11380.0, "length": 101, "protein_name": "Ubiquitin-related modifier 1", "gene_name": "URM1", "organism": "Human", "refseq_name": "ubiquitin-related modifier 1 isoform b", "refseq_ac": [ { "id": "NP_001129419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129419", "type": "external" } ], "gene_names_uniprotkb": "URM1; C9orf74", "gene_names_refseq": "C9orf74; URM1", "protein_names_uniprotkb": "Ubiquitin-related modifier 1", "protein_names_refseq": "ubiquitin-related modifier 1 homolog; ubiquitin-related modifier 1 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:81605); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18491921;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;21209336;21245332;22344696;22453920;22591353;22995836;23042678;23048041;23381944;23481700;23604283;24126054;24204302;24901367;25261850;25404562;25576301;25747390;25916855;26154972;26160102;26310293;27055666;28904123;29557506;31154438;31217245;31481669;31530632;31844290;32157095;32488085;32502341;32901956;32938616;33141586;33548388;33592498;33936100;33968037;35051231;35580925;36610787;9430663;9851972", "class_list": "", "function": "Acts as a sulfur carrier required for 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of cytosolic tRNA(Lys), tRNA(Glu) and tRNA(Gln) (PubMed:19017811). Serves as sulfur donor in tRNA 2-thiolation reaction by being thiocarboxylated (-COSH) at its C-terminus by MOCS3 (PubMed:19017811, PubMed:22453920). The sulfur is then transferred to tRNA to form 2-thiolation of mcm(5)S(2)U (PubMed:19017811, PubMed:22453920). Also acts as a ubiquitin-like protein (UBL) that is covalently conjugated via an isopeptide bond to lysine residues of target proteins such as MOCS3, ATPBD3, CTU2, USP15 and CAS (PubMed:21209336). The thiocarboxylated form serves as substrate for conjugation and oxidative stress specifically induces the formation of UBL-protein conjugates (PubMed:21209336)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed]; Molecular basis for the bifunctional Uba4-Urm1 sulfur-relay system in tRNA thiolation and ubiquitin-like conjugation., [RefSeq, PubMed]; Observations suggest that Urm1 activation is more similar to that of a prokaryotic sulfur carrier protein than that of a ubiquitin-like protein, [RefSeq, PubMed]; The UBA4-URM1 system represents the evolutionary link between protein conjugation and protein modification by sulfur carrier proteins., [RefSeq, PubMed]; The emerging roles of ubiquitin-like protein Urm1 in eukaryotes. Review article, [RefSeq, PubMed]; Ubiquitin-like Urm1.Uba4 systems are conserved and exchangeable between human and yeast cells, [RefSeq, PubMed]; Urm1 has a conserved dual role by integrating the functions of prokaryotic sulfur carriers with those of eukaryotic protein modifiers of the Ub family, [RefSeq, PubMed]; Urm1 is activated by an unusual mechanism to yield a thiocarboxylate intermediate that serves as sulfur donor in tRNA thiolation reactions, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KMH3;B4DV08;Q5T4B4", "ec_number_list": [], "go_molecular_function": "GO:0000166 nucleotide binding;GO:0031386 protein tag activity;GO:0097163 sulfur carrier activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0034227 tRNA thio-modification;GO:0002098 tRNA wobble uridine modification;GO:0032447 protein urmylation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9BTM9-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14CS0-1", "uniprot_id": [ { "id": "UBX2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14CS0", "type": "external" } ], "mass": 37077.0, "length": 331, "protein_name": "UBX domain-containing protein 2B", "gene_name": "UBXN2B", "organism": "Human", "refseq_name": "UBX domain-containing protein 2B isoform 1", "refseq_ac": [ { "id": "NP_001071087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071087", "type": "external" } ], "gene_names_uniprotkb": "UBXN2B", "gene_names_refseq": "UBXN2B; p37", "protein_names_uniprotkb": "UBX domain-containing protein 2B; NSFL1 cofactor p37; p97 cofactor p37", "protein_names_refseq": "NSFL1 cofactor p37; UBX domain-containing protein 2B isoform 1; UBX domain-containing protein 2B; p97 cofactor p37", "tax_id": 9606, "disease": "", "pathway": " (hsa:137886)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;17141156;18669648;19413330;19690332;20058876;20875789;23186163;23481700;23649807;24715725;26154972;26992070;28832583;28904123;29242379;29493099;29557506;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34087483;34171305;34509645;34561969;35051231;35580925;36088301", "class_list": "", "function": "Adapter protein required for Golgi and endoplasmic reticulum biogenesis (PubMed:17141156). Involved in Golgi and endoplasmic reticulum maintenance during interphase and in their reassembly at the end of mitosis (PubMed:17141156). The complex formed with VCP has membrane fusion activity; membrane fusion activity requires USO1-GOLGA2 tethering and BET1L (PubMed:17141156). VCPIP1 is also required, but not its deubiquitinating activity (PubMed:17141156). Together with NSFL1C/p47, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase (PubMed:23649807). Also, regulates spindle orientation during mitosis (PubMed:23649807)., [UniProtKB, PubMed, PubMed]; Human p37/p47 and their C. elegans orthologue UBXN-2 regulate centrosome function in prophase by limiting the recruitment of Aurora A, [RefSeq, PubMed]; In silico prediction, characterization, docking studies and molecular dynamics simulation of human p97 in complex with p37 cofactor. Publication Status: Online-Only, [RefSeq, PubMed]; These results demonstrate that p37 phosphorylation on Serine-56 and Threonine-59 is important for Golgi disassembly at mitosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KWZ3", "ec_number_list": [], "go_molecular_function": "GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0031616 spindle pole centrosome", "go_biological_process": "GO:0031468 nuclear membrane reassembly;GO:0043335 protein unfolding;GO:0000045 autophagosome assembly;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0061025 membrane fusion", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q14CS0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01860-1", "uniprot_id": [ { "id": "PO5F1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01860", "type": "external" } ], "mass": 38571.0, "length": 360, "protein_name": "POU domain, class 5, transcription factor 1", "gene_name": "POU5F1", "organism": "Human", "refseq_name": "POU domain, class 5, transcription factor 1 isoform 3", "refseq_ac": [ { "id": "NP_001272916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272916", "type": "external" } ], "gene_names_uniprotkb": "POU5F1; OCT3; OCT4; OTF3", "gene_names_refseq": "OCT3; OCT4Borf1; OCT4; OTF-3; OTF3; OTF4; Oct-3; Oct-4; Oct3/4; POU5F1", "protein_names_uniprotkb": "POU domain, class 5, transcription factor 1; OTF-3; Oct-3; Oct-4; Octamer-binding protein 3; Octamer-binding protein 4; Octamer-binding transcription factor 3", "protein_names_refseq": "POU domain transcription factor OCT4; POU domain, class 5, transcription factor 1 isoform 3; POU domain, class 5, transcription factor 1; POU-type homeodomain-containing DNA-binding protein; octamer-binding protein 3; octamer-binding protein 4; octamer-binding transcription factor 3", "tax_id": 9606, "disease": "transitional cell carcinoma (Disease Ontology:DOID:2671); embryonal carcinoma (Disease Ontology:DOID:3308); seminoma (Disease Ontology:DOID:4440); dysgerminoma (Disease Ontology:DOID:4441); in situ carcinoma (Disease Ontology:DOID:8719)", "pathway": " (hsa:5460); (R-HSA-2892245); (R-HSA-2892247); (R-HSA-452723); (R-HSA-9754189); (R-HSA-9823739); (R-HSA-9827857); (R-HSA-9834899)", "pathway_count": 8, "publication_count": 154, "publication_id_list": "10209961;10716450;10804184;11077116;11237011;11751684;11855863;12065233;12787505;1408763;14681828;14688391;15108323;15110706;15277698;15342930;15342941;15493035;15513931;15582778;15625129;15695770;15743839;15860457;15881652;15955829;15983365;15988017;16153702;16229821;16397896;16670092;16702430;16846370;16862074;16951404;16954206;16978057;17068183;1715580;17204602;17267691;17506876;17567999;17572666;17580084;17628018;18029452;18035408;18042803;18191611;18212089;18366076;18388306;18550259;18653770;18687985;18729794;18787205;18824471;19057969;19128516;19151334;19274063;19329776;19383152;19440552;19489092;19489980;19522013;19544431;19604364;19688839;19696931;19755485;19829295;19966271;20027182;20074535;20230781;20333750;20505756;20505821;20526341;20549704;20604894;20616345;20624125;20837710;20872845;20925113;20953172;21049019;21245162;21296877;21630377;21791611;21816365;21924763;22015605;22178155;22210884;22215994;22327294;22402664;22474382;22855527;22887036;22988117;23024368;23041284;23178592;23827706;23827708;24218367;25116380;25543152;25625591;25693565;25921273;25936800;26189426;26687479;26769970;27052315;28922739;28985527;29091993;29234012;29713018;30590035;31306665;32127035;32409685;32448362;32897882;33470497;33565603;33608411;34065661;34342803;35411086;38579716;38928444;7545930;7555726;7688835;7908264;8567814;8895516;9000051;9354794;9417125;9807024", "class_list": "", "function": "A 30-nt sequence (nt 201-231), which is sufficient to promote internal initiation of translation of OCT4B mRNA in embryonic stem cells was mapped., [RefSeq, PubMed]; DNA binding, transactivation, and abilities to confer self-renewal of the human OCT-4 isoforms differ, [RefSeq, PubMed]; LINC00662 Promotes Aggressive Traits by Modulating OCT4 Expression through miR-335-5p in Gallbladder Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; OCT4 gene, by the regulation of alternative splicing and alternative translation initiation, may carry out more crucial roles in many biological events. GeneRIF: Shows that isoform OCT4B-190 initiates at a non-AUG (CUG) translation initiation codon., [RefSeq, PubMed]; OCT4 spliced variants are differentially expressed in human pluripotent and nonpluripotent cells, [RefSeq, PubMed]; Oct4 controls basement membrane development during human embryogenesis., [RefSeq, PubMed]; This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]., [RefSeq]; This review article underscores the importance of identifying and discriminating the expression and functions of OCT4 isoforms in stem cell research. Review article, [RefSeq, PubMed]; Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 or SOX15 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency., [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": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A6NCS1;A6NLL8;D2IYK4;P31359;Q15167;Q15168;Q16422;Q5STF3;Q5STF4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0003723 RNA binding;GO:0031625 ubiquitin protein ligase binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0009786 regulation of asymmetric cell division;GO:0001714 endodermal cell fate specification;GO:0060913 cardiac cell fate determination;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q01860-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4K4-1", "uniprot_id": [ { "id": "M4K5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4K4", "type": "external" } ], "mass": 95054.0, "length": 846, "protein_name": "Mitogen-activated protein kinase kinase kinase kinase 5", "gene_name": "MAP4K5", "organism": "Human", "refseq_name": "mitogen-activated protein kinase kinase kinase kinase 5", "refseq_ac": [ { "id": "NP_006566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006566", "type": "external" } ], "gene_names_uniprotkb": "MAP4K5", "gene_names_refseq": "GCKR; KHS1; KHS; MAP4K5; MAPKKKK5", "protein_names_uniprotkb": "Mitogen-activated protein kinase kinase kinase kinase 5; 2.7.11.1; KHS; Kinase homologous to SPS1/STE20; MAPK/ERK kinase kinase kinase 5; MEK kinase kinase 5; MEKKK 5", "protein_names_refseq": "MAPK/ERK kinase kinase kinase 5; MEK kinase kinase 5; MEKKK 5; germinal center kinase-related; kinase homologous to SPS1/STE20; mitogen-activated protein kinase kinase kinase kinase 5", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:11183)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;17344846;18083107;18452278;19608861;19664994;23186163;25645385;28228285;28832583;28834231;29557506;29786170;29789417;30833945;31848261;32161166;9038372;9788432", "class_list": "", "function": "May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway., [UniProtKB, PubMed]; Serine/threonine kinase that plays a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway., [UniProtKB, UniProtKB]; This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 1, "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": "A0A0A0MQR1;A0A804HIS2;Q8IYF6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008349 MAP kinase kinase kinase kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9Y4K4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94888-1", "uniprot_id": [ { "id": "UBXN7_HUMAN", "url": "https://www.uniprot.org/uniprot/O94888", "type": "external" } ], "mass": 54862.0, "length": 489, "protein_name": "UBX domain-containing protein 7", "gene_name": "UBXN7", "organism": "Human", "refseq_name": "UBX domain-containing protein 7", "refseq_ac": [ { "id": "NP_056377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056377", "type": "external" } ], "gene_names_uniprotkb": "UBXN7; KIAA0794; UBXD7", "gene_names_refseq": "UBXD7; UBXN7", "protein_names_uniprotkb": "UBX domain-containing protein 7", "protein_names_refseq": "UBX domain containing 7; UBX domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:26043); (R-HSA-8951664); (R-HSA-9755511)", "pathway_count": 3, "publication_count": 225, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12198130;12504025;12504026;12526791;12538644;12609982;12682069;12700136;12759363;12816948;14517290;14585973;14688281;14690597;14757770;14764894;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15983046;16171779;16286508;16359182;16401342;16547496;16647857;16707496;16790436;16943200;16962933;16964243;17081101;17132228;17183367;17220875;17322306;17332328;17497243;17512459;17525332;17693683;17785452;17979524;18077418;18093314;18206966;18212344;18220336;18238777;18273910;18452278;18669648;18767875;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19413330;19415658;19617556;19651622;19664994;19664995;19690332;19748355;20068231;20378532;20452972;20495340;21220506;21391649;21406692;21447816;21463634;21645854;21734707;21778237;21863050;21940857;22306028;22466964;22537386;22789539;22872865;22959436;23186163;23201271;23274085;23301498;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24011591;24076655;24298019;24366543;24636985;24715725;24793695;24793696;25040165;25314029;25349211;25355947;25531226;25576301;25793262;25880248;25921531;26117325;26154972;26344709;26460955;26583321;26632597;26906416;26942676;26992070;27030794;27222660;27565346;27846572;27920218;28115426;28228285;28380357;28510447;28832583;28904123;29153394;29233872;29242379;29450944;29493099;29508533;29526543;29557506;29632046;29632711;29786170;30315122;30429286;30484775;30610225;31154438;31217245;31530632;31546975;31844290;31848261;31937595;31998317;32005965;32157095;32161166;32284348;32293500;32357974;32387766;32640524;32672401;32897882;32938616;32983136;33009401;33141586;33298915;33444648;33537174;33592498;33791708;33859744;33968037;34019948;34087483;34932366;35051231;35318648;35580925;36010968;36096451;36215666;36241641;36257578;36284347;37744330;40914422;9790970;9887101;9891082", "class_list": "", "function": "CircUBXN7 promotes macrophage infiltration and renal fibrosis associated with the IGF2BP2-dependent SP1 mRNA stability in diabetic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; CircUBXN7 suppresses cell proliferation and facilitates cell apoptosis in lipopolysaccharide-induced cell injury by sponging miR-622 and regulating the IL6ST/JAK1/STAT3 axis., [RefSeq, PubMed]; FAF1 and UBXD7 only bind to p97-UFD1/NPL4, but not free p97, thus demonstrating for the first time a hierarchy in p97-cofactor interactions, [RefSeq, PubMed]; HBV X Protein Induces Degradation of UBXN7, a Novel Negative Regulator of NF-kappaB Signaling, to Promote HBV Replication., [RefSeq, PubMed]; Study finds that UBXN7 over-expression converts CUL2 to its neddylated form and causes the accumulation of non-ubiquitylated HIF1alpha. Publication Status: Online-Only, [RefSeq, PubMed]; UBXD7 links p97 to the ubiquitin ligase CUL2/VHL and its substrate hypoxia-inducible factor 1alpha (HIF1alpha)., [RefSeq, PubMed]; Ubiquitin-binding adapter that links a subset of NEDD8-associated cullin ring ligases (CRLs) to the segregase VCP/p97, to regulate turnover of their ubiquitination substrates., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "D3DXB3;Q6ZP77;Q86X20;Q8N327", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0043130 ubiquitin binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "O94888-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49427-1", "uniprot_id": [ { "id": "UB2R1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49427", "type": "external" } ], "mass": 26737.0, "length": 236, "protein_name": "Ubiquitin-conjugating enzyme E2 R1", "gene_name": "CDC34", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 R1", "refseq_ac": [ { "id": "NP_004350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004350", "type": "external" } ], "gene_names_uniprotkb": "CDC34; UBCH3; UBE2R1", "gene_names_refseq": "CDC34; E2-CDC34; UBC3; UBCH3; UBE2R1", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 R1; (E3-independent) E2 ubiquitin-conjugating enzyme R1; 2.3.2.23; 2.3.2.24; E2 ubiquitin-conjugating enzyme R1; Ubiquitin-conjugating enzyme E2-32 kDa complementing; Ubiquitin-conjugating enzyme E2-CDC34; Ubiquitin-protein ligase R1", "protein_names_refseq": "(E3-independent) E2 ubiquitin-conjugating enzyme R1; E2 ubiquitin-conjugating enzyme R1; cell division cycle 34 homolog; cell division cycle 34, ubiqiutin conjugating enzyme; ubiquitin carrier protein; ubiquitin-conjugating enzyme E2 R1; ubiquitin-conjugating enzyme E2-32 KDA complementing; ubiquitin-conjugating enzyme E2-CDC34; ubiquitin-protein ligase R1", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:997); (R-HSA-202424); (R-HSA-2871837); (R-HSA-5607764); (R-HSA-8866652); (R-HSA-983168)", "pathway_count": 6, "publication_count": 164, "publication_id_list": "10187770;10329681;10373550;10698680;10702308;10716940;10769200;10779524;10838074;10871850;10882101;10918611;11053425;11057907;11062501;11090634;11237011;11262391;11325957;11350924;11358993;11447293;11460167;11546811;11606584;11675391;11772397;11805320;11884229;12037680;12060736;12473183;12473184;12646216;12660731;14514672;14734113;15105418;15122200;15125833;15145317;15224091;15224092;15327770;15371334;15541657;15571818;15652359;15845454;16056267;16123592;16142244;16186825;16252004;16341139;16356853;16356855;16356856;16595681;16612002;16831874;16849449;16954532;16978534;17047224;17072321;17135271;17158449;17363905;17428801;17461777;17468049;17496917;17548359;17580310;17588522;17597759;17698585;17728323;17948050;18353650;18662542;18772140;18851830;19028597;19112177;19126550;19352404;19359218;19452197;19489725;19851334;19874575;19934406;19940261;19945379;20038579;20061386;20068231;20193029;20300203;20347421;20538596;20685844;21525931;21683433;21966355;22069318;22265677;22496338;2261476;22798961;24074955;24316736;25892735;26235645;26992070;27786305;27846572;27920218;28218747;28657654;28832583;28904123;29242379;29437277;29557506;29769354;29786170;30410026;30484775;31217245;31844290;31868589;32114396;32157095;32268269;32502341;33691108;33912179;33936100;33981976;34561969;36215666;36241641;38326650;6277905;6305978;7479848;7499357;7612269;7851534;8010951;8248134;8550590;8601309;8972730;9252186;9362451;9380723;9521656;9668046;9687533;9990853", "class_list": "", "function": "E2 ubiquitin-conjugating enzyme that accepts ubiquitin from an E1 ubiquitin-activating protein, and catalyzes its covalent attachment to other proteins by an E3 ubiquitin-protein ligase complex (PubMed:10329681, PubMed:17588522, PubMed:20061386, PubMed:38326650). In vitro catalyzes 'Lys-48'-linked polyubiquitination (PubMed:22496338). Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation (PubMed:10329681, PubMed:10918611, PubMed:17698585). Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Cooperates with the SCF(SKP2) E3 ligase complex to regulate cell proliferation through ubiquitination and degradation of MYBL2 and KIP1 (PubMed:10871850, PubMed:15652359, PubMed:19112177). Involved in ubiquitin conjugation and degradation of CREM isoform ICERIIgamma and ATF15 resulting in abrogation of ICERIIgamma- and ATF5-mediated repression of cAMP-induced transcription during both meiotic and mitotic cell cycles. Involved in the regulation of the cell cycle G2/M phase through its targeting of the WEE1 kinase for ubiquitination and degradation (PubMed:19126550). Also involved in the degradation of beta-catenin (PubMed:12037680). Is target of human herpes virus 1 protein ICP0, leading to ICP0-dependent dynamic interaction with proteasomes (PubMed:11805320, PubMed:12060736)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Systematic identification of CDC34 that functions to stabilize EGFR and promote lung carcinogenesis., [RefSeq, PubMed]; Targeting CDC34 E2 ubiquitin conjugating enzyme for lung cancer therapy., [RefSeq, PubMed]; The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE2R2 alone had negligible ubiquitylation activity at physiological concentrations and the ablation of UBE2R1/2 had no effect on the stability of SCF substrates in cells. A genome-wide CRISPR screen revealed that an additional E2 enzyme, UBE2G1, buffers against the loss of UBE2R1/2. 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": 18, "reported_mutagensis": 27, "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": "A8K689", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0061631 ubiquitin conjugating enzyme activity;GO:0019787 ubiquitin-like protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0036211 protein modification process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0000082 G1/S transition of mitotic cell cycle;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P49427-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15555-1", "uniprot_id": [ { "id": "MARE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15555", "type": "external" } ], "mass": 37031.0, "length": 327, "protein_name": "Microtubule-associated protein RP/EB family member 2", "gene_name": "MAPRE2", "organism": "Human", "refseq_name": "microtubule-associated protein RP/EB family member 2 isoform 2", "refseq_ac": [ { "id": "NP_001137298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137298", "type": "external" } ], "gene_names_uniprotkb": "MAPRE2; RP1", "gene_names_refseq": "CSCSC2; EB1; EB2; MAPRE2; RP1", "protein_names_uniprotkb": "Microtubule-associated protein RP/EB family member 2; APC-binding protein EB2; EB2; End-binding protein 2", "protein_names_refseq": "APC-binding protein EB1; APC-binding protein EB2; T-cell activation protein, EB1 family; end-binding protein 2; microtubule-associated protein RP/EB family member 2 isoform 2", "tax_id": 9606, "disease": "congenital symmetric circumferential skin creases 2 (Disease Ontology:DOID:0112243)", "pathway": " (hsa:10982)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10188731;11237011;14514668;15592455;15986447;17081983;17287340;18088087;18669648;19413330;19651622;20068231;21646404;22373814;23186163;23481700;23844040;24366607;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26527684;26637975;26728094;26992070;27030108;27600516;27920218;28411811;28510447;28514659;28832583;28904123;29242379;29351928;29393594;29493099;29557506;30315122;30429286;30524438;30779550;30784271;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32897882;32983136;33141586;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35561310;36010968;36284347;36608637;38095085;40596516;40914422;9233623", "class_list": "", "function": "Adapter protein that is involved in microtubule polymerization, and spindle function by stabilizing microtubules and anchoring them at centrosomes. Therefore, ensures mitotic progression and genome stability (PubMed:27030108). Acts as a central regulator of microtubule reorganization in apico-basal epithelial differentiation (By similarity). Plays a role during oocyte meiosis by regulating microtubule dynamics (By similarity). Participates in neurite growth by interacting with plexin B3/PLXNB3 and microtubule reorganization during apico-basal epithelial differentiation (PubMed:22373814). Also plays an essential role for cell migration and focal adhesion dynamics. Mechanistically, recruits HAX1 to microtubules in order to regulate focal adhesion dynamics (PubMed:26527684)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; JUND facilitates proliferation and angiogenesis of esophageal squamous cell carcinoma cell via MAPRE2 up-regulation., [RefSeq, PubMed]; The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction., [RefSeq, PubMed]; The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "B2RE21;B3KR39;B4DJV4;B7Z2L3;E9PHR3;F5H1V8;G5E9I6;Q9UQ33", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0051010 microtubule plus-end binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005925 focal adhesion;GO:0051233 spindle midzone;GO:0015630 microtubule cytoskeleton;GO:0005815 microtubule organizing center", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0051301 cell division;GO:0051549 positive regulation of keratinocyte migration;GO:0051225 spindle assembly;GO:0035372 protein localization to microtubule", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q15555-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11686-1", "uniprot_id": [ { "id": "PSPC_HUMAN", "url": "https://www.uniprot.org/uniprot/P11686", "type": "external" } ], "mass": 21013.0, "length": 197, "protein_name": "Surfactant protein C", "gene_name": "SFTPC", "organism": "Human", "refseq_name": "surfactant protein C isoform 2", "refseq_ac": [ { "id": "NP_001165828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165828", "type": "external" } ], "gene_names_uniprotkb": "SFTPC; SFTP2", "gene_names_refseq": "BRICD6; PSP-C; SFTP2; SFTPC; SMDP2; SP-C", "protein_names_uniprotkb": "Surfactant protein C; Pulmonary surfactant-associated protein C; Pulmonary surfactant-associated proteolipid SPL(Val); SP-C; SP5", "protein_names_refseq": "BRICHOS domain containing 6; pulmonary surfactant apoprotein-2 SP-C; pulmonary surfactant-associated proteolipid SPL(Val); surfactant protein C isoform 2", "tax_id": 9606, "disease": "desquamative interstitial pneumonia (Disease Ontology:DOID:0050158); adult respiratory distress syndrome (Disease Ontology:DOID:11394); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystic fibrosis (Disease Ontology:DOID:1485); asthma (Disease Ontology:DOID:2841); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:6440); (R-HSA-5683826); (R-HSA-5688354); (R-HSA-5688849); (R-HSA-5688890)", "pathway_count": 5, "publication_count": 83, "publication_id_list": "10368295;10485905;10496952;10580105;10625644;11237011;11278984;11563989;11991887;12185598;12882447;1325798;1339284;13817571;1415726;14735158;15039969;15293602;15557112;15572558;15647591;1568474;15926889;16006481;16199866;1636732;16423266;16630564;17496061;18020944;18083107;18692472;18955570;1898081;19100526;19144824;1928448;19443464;19824815;20054143;20147294;20338813;20418254;21075760;21205713;22308375;23069847;2326260;23590306;23684610;23701443;23922714;24743970;2515193;25424900;2587265;2610270;26871637;2839484;2995821;3037072;31154438;32157095;3335510;3366248;34631;3479771;35326463;35488463;36324278;36736545;3755136;3801783;38345107;5942662;7597036;8181452;8314870;8428971;8522976;8527267;8636114;9813380", "class_list": "glycogene", "function": "Decreased expression of surfactant Protein-C and CD74 in alveolar epithelial cells during influenza virus A(H1N1)pdm09 and H3N2 infection., [RefSeq, PubMed]; Elevated serum TARC/CCL17 levels associated with childhood interstitial lung disease with SFTPC gene mutation., [RefSeq, PubMed]; Inherited pulmonary surfactant metabolism disorders in Argentina: Differences between patients with SFTPC and ABCA3 variants., [RefSeq, PubMed]; Multi-Design Differential Expression Profiling of COVID-19 Lung Autopsy Specimens Reveals Significantly Deregulated Inflammatory Pathways and SFTPC Impaired Transcription. Publication Status: Online-Only, [RefSeq, PubMed]; Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults., [RefSeq, PubMed]; This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 276, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MTC9;A6XNE4;B2RE00;E9PGX3;P11687;Q12793;Q7Z5D0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005789 endoplasmic reticulum membrane;GO:0097208 alveolar lamellar body;GO:0045334 clathrin-coated endocytic vesicle", "go_biological_process": "GO:0007585 respiratory gaseous exchange by respiratory system", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P11686-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13033-1", "uniprot_id": [ { "id": "STRN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13033", "type": "external" } ], "mass": 87209.0, "length": 797, "protein_name": "Striatin-3", "gene_name": "STRN3", "organism": "Human", "refseq_name": "striatin-3 isoform 1", "refseq_ac": [ { "id": "NP_001077362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077362", "type": "external" } ], "gene_names_uniprotkb": "STRN3; GS2NA; SG2NA", "gene_names_refseq": "PPP2R6B; S/G2NA; SG2NA; STRN3", "protein_names_uniprotkb": "Striatin-3; Cell cycle autoantigen SG2NA; S/G2 antigen", "protein_names_refseq": "cell cycle S/G2 nuclear autoantigen; cell cycle autoantigen SG2NA; nuclear autoantigen; protein phosphatase 2 regulatory subunit B'''beta; s/G2 antigen; striatin, calmodulin binding protein 3; striatin-3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:29966)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10.1101/2023.09.13.557529;10748158;11237011;16964243;17322306;18452278;18669648;18767875;18782753;19413330;19651622;19664994;19664995;19690332;20068231;21406692;22223895;23186163;24275569;24715725;25576301;25645385;25743393;26876214;26992070;27600516;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29557506;29632711;29786170;30429286;30524438;30622739;30779550;31154438;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32897882;32938616;33298915;33592498;33633399;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35230605;35318648;35580925;36010968;36241641;36602306;37938771;38429901;38665916;40914422;7864889", "class_list": "", "function": "Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes (PubMed:18782753, PubMed:30622739, 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. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Phosphorylation of Influenza A Virus Matrix Protein 1 at Threonine 108 Controls Its Multimerization State and Functional Association with the STRIPAK Complex., [RefSeq, PubMed]; STRN3 promotes tumour growth in hepatocellular carcinoma by inhibiting the hippo pathway., [RefSeq, PubMed]; The profile of expression of the scaffold protein SG2NA(s) differs between cancer types and its interactome in normal vis-a-vis breast tumor tissues suggests its wide roles in regulating multiple cellular pathways., [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": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "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": "A2RTX7;A6NHZ7;Q9NRA5", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0044877 protein-containing complex binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0000122 negative 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:0032355 response to estradiol", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q13033-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB24-1", "uniprot_id": [ { "id": "RIN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB24", "type": "external" } ], "mass": 107854.0, "length": 985, "protein_name": "Ras and Rab interactor 3", "gene_name": "RIN3", "organism": "Human", "refseq_name": "ras and Rab interactor 3 isoform 2", "refseq_ac": [ { "id": "NP_001306916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306916", "type": "external" } ], "gene_names_uniprotkb": "RIN3", "gene_names_refseq": "RIN3", "protein_names_uniprotkb": "Ras and Rab interactor 3; Ras interaction/interference protein 3", "protein_names_refseq": "RAB5 interacting protein 3; ras and Rab interactor 3 isoform 2; ras interaction/interference protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79890); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 225, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11733506;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18486601;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23839779;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25648148;25713415;25892735;25925668;26055712;26177209;26245486;26375851;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;28228285;28738127;28832583;29242379;29393594;29493099;29557506;29632711;29769354;29786170;30726512;31154438;31844290;31848261;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;34171305;34509645;34932366;35051231;35241726;35580925;36010968;36284347;37938771;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Genetic Variation in RIN3 in the Belgian Population Supports Its Involvement in the Pathogenesis of Paget's Disease of Bone and Modifies the Age of Onset., [RefSeq, PubMed]; RIN3 biochemically characterized as the stimulator and stabilizer for GTP-Rab5 plays an important role in the transport pathway from plasma membrane to early endosomes, [RefSeq, PubMed]; RIN3 may be involved in endolysosomal transport-a process known to be important to development of early onset AD., [RefSeq, PubMed]; Ras effector protein that functions as a guanine nucleotide exchange (GEF) for RAB5B and RAB31, by exchanging bound GDP for free GTP. Required for normal RAB31 function., [UniProtKB, PubMed, PubMed]; The neuronal-specific isoform of BIN1 regulates beta-secretase cleavage of APP and Abeta generation in a RIN3-dependent manner. Erratum:[Sci Rep. 2022 Apr 6;12(1):5739. doi: 10.1038/s41598-022-09896-1. PMID: 35388126] Publication Status: Online-Only, [RefSeq, PubMed]; This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guanine nucleotide exchange for RAB5B and RAB31. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]; Tyrosine-phosphorylation signals are involved in the RIN3 activation and translocation to early endocytic vesicles., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 26, "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": "Q76LB3;Q8NF30;Q8TEE8;Q8WYP4;Q9H6A5;Q9HAG1", "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:0005769 early endosome;GO:0005829 cytosol;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0097494 regulation of vesicle size;GO:0002091 negative regulation of receptor internalization;GO:0060755 negative regulation of mast cell chemotaxis", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q8TB24-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75718-1", "uniprot_id": [ { "id": "CRTAP_HUMAN", "url": "https://www.uniprot.org/uniprot/O75718", "type": "external" } ], "mass": 46562.0, "length": 401, "protein_name": "Cartilage-associated protein", "gene_name": "CRTAP", "organism": "Human", "refseq_name": "cartilage-associated protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362", "type": "external" } ], "gene_names_uniprotkb": "CRTAP; CASP", "gene_names_refseq": "CASP; CRTAP; LEPREL3; OI7; P3H5", "protein_names_uniprotkb": "Cartilage-associated protein", "protein_names_refseq": "cartilage-associated protein isoform 1 precursor; leprecan-like 3; prolyl 3-hydroxylase family member 5 (non-enzymatic)", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); Parkinsonism (Disease Ontology:DOID:0080855); osteogenesis imperfecta type 7 (Disease Ontology:DOID:0110337); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); obsessive-compulsive disorder (Disease Ontology:DOID:10933); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); urinary bladder cancer (Disease Ontology:DOID:11054); polycystic ovary syndrome (Disease Ontology:DOID:11612); bulimia nervosa (Disease Ontology:DOID:12129); vitiligo (Disease Ontology:DOID:12306); pathological gambling (Disease Ontology:DOID:12399); intermittent explosive disorder (Disease Ontology:DOID:12401); leiomyoma (Disease Ontology:DOID:127); eumycotic mycetoma (Disease Ontology:DOID:13078); lung cancer (Disease Ontology:DOID:1324); endometrial cancer (Disease Ontology:DOID:1380); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); cannabis dependence (Disease Ontology:DOID:1849); ovarian cancer (Disease Ontology:DOID:2394); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); bipolar disorder (Disease Ontology:DOID:3312); renal cell carcinoma (Disease Ontology:DOID:4450); uremia (Disease Ontology:DOID:4676); schizophrenia (Disease Ontology:DOID:5419); fibromyalgia (Disease Ontology:DOID:631); amphetamine abuse (Disease Ontology:DOID:670); psoriasis (Disease Ontology:DOID:8893); cannabis abuse (Disease Ontology:DOID:9505); neonatal abstinence syndrome (Disease Ontology:DOID:9828); obesity (Disease Ontology:DOID:9970); drug dependence (Disease Ontology:DOID:9974); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:10491); (R-HSA-1650814)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10479448;10702664;10934207;11237011;12473679;12475640;12646579;1323838;14500733;15044469;1577494;16591531;17055431;18487197;18566967;19075007;19550437;19693541;20470363;21878990;21955071;21967573;23481700;24190977;24714562;25418920;2543975;25576301;25645385;25892735;26992070;27600516;27846572;27862975;27920218;28218747;28467828;28510447;28832583;28834231;29242379;29314611;29393594;29437277;29557506;29741879;29769354;29786170;30059200;30315122;30389107;30429286;30484775;30524438;30833945;31154438;3173483;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33214551;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;35051231;35154160;35251023;35254053;35289036;35580925;35703132;36010968;36215666;36241641;36284347;36581221;37074911;38214665;38665916;3905801;39245686;3938630;40596516;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "", "function": "Complexes with prolyl 3-hydroxylase 1 (P3H1) to decrease prolyl 3 hydroxylation; dysregulation of prolyl 3 hydroxylation is a mechanism for connective tissue disease, [RefSeq, PubMed]; Genetic Analysis, Phenotypic Spectrum and Functional Study of Rare Osteogenesis Imperfecta Caused by CRTAP Variants., [RefSeq, PubMed]; Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues., [UniProtKB, PubMed, PubMed]; Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta., [RefSeq, PubMed]; Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.', trans 'Osteogenesis imperfecta causada por mutacion en los genes COL1A1, CRTAP y LEPRE1. Estudio de 2casos., [RefSeq, PubMed]; Screening of 78 subjects diagnosed with osteogenesis imperfecta type II or III, identified three probands with mutations in CRTAP and 16 with mutations in LEPRE1., [RefSeq, PubMed]; The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 41, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RBL6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0032991 protein-containing complex", "go_biological_process": "GO:1901874 negative regulation of post-translational protein modification;GO:0007283 spermatogenesis;GO:0030199 collagen fibril organization;GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "O75718-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75586-1", "uniprot_id": [ { "id": "MED6_HUMAN", "url": "https://www.uniprot.org/uniprot/O75586", "type": "external" } ], "mass": 28425.0, "length": 246, "protein_name": "Mediator of RNA polymerase II transcription subunit 6", "gene_name": "MED6", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 6 isoform 1", "refseq_ac": [ { "id": "NP_001271138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271138", "type": "external" } ], "gene_names_uniprotkb": "MED6; ARC33", "gene_names_refseq": "ARC33; MED6; NY-REN-28", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 6; ARC33; Activator-recruited cofactor 33 kDa component; Mediator complex subunit 6; Renal carcinoma antigen NY-REN-28; hMed6", "protein_names_refseq": "CTD-2540L5.5; activator-recruited cofactor 33 kDa component; mediator of RNA polymerase II transcription subunit 6 isoform 1; mediator of RNA polymerase II transcription subunit 6; renal carcinoma antigen NY-REN-28", "tax_id": 9606, "disease": "", "pathway": " (hsa:10001); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110); (R-HSA-9841922)", "pathway_count": 6, "publication_count": 138, "publication_id_list": "10024883;10075656;10235266;10235267;10330177;10425206;10508479;10558993;10777541;10835357;10882139;10993082;11027271;11095972;11237011;11267664;11395415;11607032;11867769;11872672;12118000;12177166;12213831;12505311;12582161;12829629;1310260;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16574658;16595664;16606702;16719718;16972786;17000779;17011499;17761950;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19608861;19710929;19934321;20101261;20110263;20410276;2163759;22090124;22869377;23239344;24196956;25576301;25854864;26375851;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29557506;29632711;29786170;30192525;30429286;30484775;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32502341;32983136;33329381;33537174;33592498;33691108;33912179;33968037;34019948;34561969;35051231;35580925;36010968;36102648;36215666;36241641;37217939;37938771;7685352;7892212;8183939;8325954;8521497;8521498;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9171241;9454824;9637681;9653119;9734358;9744270;9748239;9836620", "class_list": "", "function": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B4DU17;B4E2P0;O15401;Q53FE3;Q53HJ3;Q6FHQ4;Q9BTH1;Q9UHL1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0001223 transcription coactivator binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016592 mediator complex;GO:0070847 core mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "O75586-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16234-1", "uniprot_id": [ { "id": "PGFRA_HUMAN", "url": "https://www.uniprot.org/uniprot/P16234", "type": "external" } ], "mass": 122670.0, "length": 1089, "protein_name": "Platelet-derived growth factor receptor alpha", "gene_name": "PDGFRA", "organism": "Human", "refseq_name": "platelet-derived growth factor receptor alpha isoform 1 precursor", "refseq_ac": [ { "id": "NP_001334758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334758", "type": "external" } ], "gene_names_uniprotkb": "PDGFRA; PDGFR2; RHEPDGFRA", "gene_names_refseq": "CD140A; PDGFR-2; PDGFR2; PDGFRA", "protein_names_uniprotkb": "Platelet-derived growth factor receptor alpha; 2.7.10.1; Alpha platelet-derived growth factor receptor; Alpha-type platelet-derived growth factor receptor; CD140 antigen-like family member A; CD140a antigen; PDGF-R-alpha; PDGFR-2; PDGFR-alpha; Platelet-derived growth factor alpha receptor; Platelet-derived growth factor receptor 2", "protein_names_refseq": "CD140 antigen-like family member A; CD140a antigen; PDGF-R-alpha; alpha-type platelet-derived growth factor receptor; platelet-derived growth factor receptor 2; platelet-derived growth factor receptor alpha isoform 1 precursor; platelet-derived growth factor receptor, alpha polypeptide", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902); stroke (Disease Ontology:DOID:0051061); hypertension (Disease Ontology:DOID:10763); sciatic neuropathy (Disease Ontology:DOID:11446); oligohydramnios (Disease Ontology:DOID:12215); leukemia (Disease Ontology:DOID:1240); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); prostate adenocarcinoma (Disease Ontology:DOID:2526); Leydig cell tumor (Disease Ontology:DOID:2696); carcinoma (Disease Ontology:DOID:305); breast carcinoma (Disease Ontology:DOID:3459); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); craniopharyngioma (Disease Ontology:DOID:3840); brain stem glioma (Disease Ontology:DOID:4202); scimitar syndrome (Disease Ontology:DOID:4297); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); T-cell acute lymphoblastic leukemia (Disease Ontology:DOID:5603); nephrolithiasis (Disease Ontology:DOID:585); chronic ulcer of skin (Disease Ontology:DOID:8549); myeloid sarcoma (Disease Ontology:DOID:8683); myeloid leukemia (Disease Ontology:DOID:8692); in situ carcinoma (Disease Ontology:DOID:8719); gastrointestinal stromal tumor (Disease Ontology:DOID:9253); hypereosinophilic syndrome (Disease Ontology:DOID:999); polyps, multiple and recurrent inflammatory fibroid, gastrointestinal (MONDO:MONDO:0008285); idiopathic hypereosinophilic syndrome (MONDO:MONDO:0011895)", "pathway": " (hsa:5156); (R-HSA-1257604); (R-HSA-186763); (R-HSA-186797); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6811558); (R-HSA-9673767); (R-HSA-9673770); (R-HSA-9674396); (R-HSA-9674401); (R-HSA-9674403); (R-HSA-9674404); (R-HSA-9674428)", "pathway_count": 14, "publication_count": 257, "publication_id_list": "10191262;10417313;10508167;10508235;10579907;10733900;10734113;10837138;10869344;10947961;11027663;11090077;11095946;11136978;11147812;11237011;11297552;11313946;11546808;11702783;11803464;11882663;12032311;12094235;12121613;12167717;12369853;12522257;12538485;12569364;12660384;12767043;12808148;12949711;1311092;1314164;1325671;1374684;1375321;1396585;14506247;14644164;14699510;14707138;15207811;15207817;15221957;15356145;1545823;15546878;15615512;15718470;15767546;15834429;15928335;15968329;16331269;16339315;1639841;16436588;16456541;1646396;16474853;16627759;16645167;16647110;16684964;17087943;1709159;17141222;1716764;17200115;17344846;17367763;17419949;17566086;17604334;17626883;17638656;17943726;17998941;18079394;18083107;18234315;18265649;18317450;18452278;18483217;18488160;18559524;18578522;18594509;18606717;18754654;18755892;18775330;18794084;18829560;18925875;18955458;1898771;19185485;19210352;19279408;19411071;19564526;19576174;19644473;19805105;19920141;19962665;20231295;20338997;20478380;20522708;20660204;20713702;20813817;20889717;20972453;21102635;21188471;21224473;21251937;21317208;21368164;21372320;21376233;21478295;21596750;21668414;2173144;21779497;21779505;21827948;21976531;21984976;21993244;22089421;22120714;22188813;22569528;22588880;22589270;22665524;22745105;22750304;22802530;22933705;23103841;23303910;23443682;23575685;23583652;23611226;23752188;23970477;24124608;2466336;2472219;24897931;24937142;24952730;25219551;25221952;25328409;2536956;2544881;2554309;25576301;25597754;25781681;25880691;25892735;25975287;26085527;26130666;26992070;27170215;27397612;27846572;27862975;28351781;28403202;28435517;28778966;29093181;29137923;29263244;29408302;29510530;29557506;29964125;30389923;31085175;31135801;31844290;32157095;33592498;33626330;33912179;35051231;35251023;35580925;36010968;36284347;37074911;37802365;37938771;38178783;38428409;38605367;38665916;38673853;6148751;7523122;7535778;7637810;7679113;7685273;7691811;7692233;7744773;7809086;7896447;7935391;7935463;7972015;8052307;8188664;8388543;8394845;8443409;8493579;8586421;8617789;8645157;8647855;8657148;8657151;8665852;8710374;8760137;8900172;8939933;8940081;8943348;9247584;9334164;9484840;9488729;9546424;9604935;9736715;9739761;9895304;9927426", "class_list": "", "function": "Association between Platelet-Derived Growth Factor Receptor Alpha Gene Polymorphisms and Platelet-Rich Plasma's Efficiency in Treating Lateral Elbow Tendinopathy-A Prospective Cohort Study. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular and clinicopathological features of KIT/PDGFRA wild-type gastrointestinal stromal tumors., [RefSeq, PubMed]; PDGFRA exhibits potential as an indicator of angiogenesis within the tumor microenvironment and is up-regulated in BLCA., [RefSeq, PubMed]; PDGFRalpha[+]ITGA11[+] fibroblasts foster early-stage cancer lymphovascular invasion and lymphatic metastasis via ITGA11-SELE interplay., [RefSeq, PubMed]; Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]., [RefSeq]; Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 26, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 138, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 30, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RE69;E9PBH0;Q6P4H5;Q96KZ7;Q9UD28", "ec_number_list": [ { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005929 cilium", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0016477 cell migration;GO:0018108 peptidyl-tyrosine phosphorylation;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 26.6, "record_id": "P16234-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPX8-3", "uniprot_id": [ { "id": "SHAN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPX8", "type": "external" } ], "mass": 201261.0, "length": 1849, "protein_name": "SH3 and multiple ankyrin repeat domains protein 2", "gene_name": "SHANK2", "organism": "Human", "refseq_name": "SH3 and multiple ankyrin repeat domains protein 2 isoform 1", "refseq_ac": [ { "id": "NP_036441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036441", "type": "external" } ], "gene_names_uniprotkb": "SHANK2; CORTBP1; KIAA1022; PROSAP1", "gene_names_refseq": "AUTS17; CORTBP1; CTTNBP1; ProSAP1; SHANK2; SHANK; SPANK-3", "protein_names_uniprotkb": "SH3 and multiple ankyrin repeat domains protein 2; CortBP1; Cortactin-binding protein 1; Proline-rich synapse-associated protein 1; Shank2", "protein_names_refseq": "GKAP/SAPAP interacting protein; SH3 and multiple ankyrin repeat domains protein 2 isoform 1; cortactin SH3 domain-binding protein; cortactin-binding protein 1; proline-rich synapse associated protein 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); autistic disorder (Disease Ontology:DOID:12849); autism, susceptibility to, 17 (MONDO:MONDO:0013265)", "pathway": " (hsa:22941); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10506216;10806096;11583995;11604393;12504591;15540461;16242404;16293618;16624946;16846852;17081983;17244609;17897391;18452278;18812509;18829961;20064387;20064388;20473310;20519524;21282647;25378172;25576301;26992070;28228285;28657654;29786170;30500825;30620550;35132862;35494241;36231770;36284347;36450866;37340703;37574039;37953224;38665916;38704506;39531497;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "Autism patient-derived SHANK2B[Y29X] mutation affects the development of ALDH1A1 negative dopamine neuron., [RefSeq, PubMed]; Expression profiles of the autism-related SHANK proteins in the human brain. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Remote ischemic conditioning alleviates chronic cerebral hypoperfusion-induced cognitive decline and synaptic dysfunction via the miR-218a-5p/SHANK2 pathway., [RefSeq, PubMed]; Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May play a role in the structural and functional organization of the dendritic spine and synaptic junction., [UniProtKB]; Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans., [RefSeq, PubMed]; This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; We identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "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": "C0SPG8;C0SPG9;Q3Y8G9;Q52LK2;Q9UKP1", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0035255 ionotropic glutamate receptor binding;GO:0030160 synaptic receptor adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030426 growth cone;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007612 learning;GO:0008284 positive regulation of cell population proliferation;GO:0008306 associative learning;GO:0030534 adult behavior;GO:0050808 synapse organization", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9UPX8-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68CZ6-1", "uniprot_id": [ { "id": "HAUS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68CZ6", "type": "external" } ], "mass": 69650.0, "length": 603, "protein_name": "HAUS augmin-like complex subunit 3", "gene_name": "HAUS3", "organism": "Human", "refseq_name": "HAUS augmin-like complex subunit 3", "refseq_ac": [ { "id": "NP_001290072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290072", "type": "external" } ], "gene_names_uniprotkb": "HAUS3; C4orf15", "gene_names_refseq": "C4orf15; HAUS3; IT1; dgt3", "protein_names_uniprotkb": "HAUS augmin-like complex subunit 3", "protein_names_refseq": "HAUS augmin-like complex subunit 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79441); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 103, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19369198;19427217;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25532896;26992070;27920218;28832583;29557506;29789417;30315122;30410026;30418433;30429286;30723163;31020640;31844290;31848261;32157095;32387766;32897882;32938616;32983136;33298915;33392160;33402344;33592498;33717175;33912179;33968037;33981976;35051231;35580925;36010968;37042573;37938771;38092960;7769006;7790358;8838651", "class_list": "", "function": "Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex., [UniProtKB, PubMed, PubMed]; PDK1-stabilized LncRNA SPRY4-IT1 promotes breast cancer progression via activating NF-kappaB signaling pathway., [RefSeq, PubMed]; RUNX1-IT1 acts as a scaffold of STAT1 and NuRD complex to promote ROS-mediated NF-kappaB activation and ovarian cancer progression., [RefSeq, PubMed]; This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5' exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B4DF64;O43606;Q8TAZ5;Q9BTJ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0005815 microtubule organizing center;GO:0036064 ciliary basal body", "go_biological_process": "GO:0010968 regulation of microtubule nucleation;GO:0051301 cell division;GO:0007098 centrosome cycle;GO:0051225 spindle assembly;GO:0031023 microtubule organizing center organization", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q68CZ6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6GPI1-1", "uniprot_id": [ { "id": "CTRB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6GPI1", "type": "external" } ], "mass": 27923.0, "length": 263, "protein_name": "Chymotrypsinogen B2", "gene_name": "CTRB2", "organism": "Human", "refseq_name": "chymotrypsinogen B2 precursor", "refseq_ac": [ { "id": "NP_001020371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020371", "type": "external" } ], "gene_names_uniprotkb": "CTRB2", "gene_names_refseq": "CTRB2", "protein_names_uniprotkb": "Chymotrypsinogen B2; 3.4.21.1", "protein_names_refseq": "chymotrypsin B2; chymotrypsinogen B2 precursor", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); pervasive developmental disorder (Disease Ontology:DOID:0060040); intellectual disability (Disease Ontology:DOID:1059); Alzheimer's disease (Disease Ontology:DOID:10652); antisocial personality disorder (Disease Ontology:DOID:10939); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119); opioid abuse (Disease Ontology:DOID:11206); pathological gambling (Disease Ontology:DOID:12399); conduct disorder (Disease Ontology:DOID:12995); alcohol use disorder (Disease Ontology:DOID:1574); substance abuse (Disease Ontology:DOID:302); dyslexia (Disease Ontology:DOID:4428); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); cannabis abuse (Disease Ontology:DOID:9505); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:440387); (R-HSA-1592389); (R-HSA-9758881)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10080186;10887099;11237011;11830519;12590260;1311314;1371271;1390635;14576052;1480033;1783204;17954916;17990953;19136951;20237569;2159879;2169257;2176865;22547309;22631584;2269296;22900303;22922874;2383557;2546891;2551898;2557753;27456980;27726376;28754779;29557506;30523278;3058116;30777892;33036922;33845046;34559995;35934298;4001945;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8663255;8804434;9261109;9346290;9422744;9578462;9632662", "class_list": "", "function": "A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer., [RefSeq, PubMed]; An inversion in the CTRB1-CTRB2 locus modifies risk for Alcoholic and Non-alcoholic Chronic Pancreatitis indicating that common pathomechanisms are involved in these inflammatory disorders., [RefSeq, PubMed]; Arg236 in human chymotrypsin B2 (CTRB2) is a key determinant of high enzyme activity, trypsinogen degradation capacity, and protection against pancreatitis., [RefSeq, PubMed]; Sequencing of the complex CTRB1-CTRB2 locus in chronic pancreatitis., [RefSeq, PubMed]; This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB2 gene is located head-to-head with the related CTRB1 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 is diagnostic for this inversion. [provided by RefSeq, Jan 2021]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K707", "ec_number_list": [ { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "3.4.21.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.1", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q6GPI1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32MQ0-1", "uniprot_id": [ { "id": "ZN750_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32MQ0", "type": "external" } ], "mass": 77361.0, "length": 723, "protein_name": "Zinc finger protein 750", "gene_name": "ZNF750", "organism": "Human", "refseq_name": "zinc finger protein 750", "refseq_ac": [ { "id": "NP_078978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078978", "type": "external" } ], "gene_names_uniprotkb": "ZNF750", "gene_names_refseq": "SLDPE; ZFP750; ZNF750", "protein_names_uniprotkb": "Zinc finger protein 750", "protein_names_refseq": "protein ZNF750; zinc finger protein 750", "tax_id": 9606, "disease": "seborrhea-like dermatitis with psoriasiform elements (MONDO:MONDO:0012446)", "pathway": " (hsa:79755); (R-HSA-212436)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16751772;18256691;2163759;22185198;22364861;22936986;26375851;30779550;31717259;31844290;31848261;33298915;35051231;37047491;37217939;37655311;38383230;39353440;8183939;8769649;9637681;9653119", "class_list": "", "function": "The GRHL3-regulated long non-coding RNA lnc-DC modulates keratinocytes differentiation by interacting with IGF2BP2 and up-regulating ZNF750., [RefSeq, PubMed]; The transcription regulators ZNF750 and LSD1/KDM1A dampen inflammation on the skin's surface by silencing pattern recognition receptors., [RefSeq, PubMed]; This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4 and promotes its expression., [UniProtKB, PubMed]; Two haplotypes of ZNF750 and rare 5' regulatory variants of ZNF750 were found to be associated with psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF750 directly links a tissue-specifying factor, p63, to an effector of terminal differentiation, KLF4., [RefSeq, PubMed]; ZNF750 mutations could contribute to psoriasis susceptibility., [RefSeq, PubMed]; ZNF750 was specifically expressed in the epidermal suprabasal layers and its expression was augmented during differentiation, both in human skin and in-vitro, peaking in the granular layer., [RefSeq, PubMed]; ZNF750: A Novel Prognostic Biomarker in Metastatic Prostate Cancer. 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": 5, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H899", "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:1990841 promoter-specific chromatin 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:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q32MQ0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14672-1", "uniprot_id": [ { "id": "GLUT4_HUMAN", "url": "https://www.uniprot.org/uniprot/P14672", "type": "external" } ], "mass": 54787.0, "length": 509, "protein_name": "Solute carrier family 2, facilitated glucose transporter member 4", "gene_name": "SLC2A4", "organism": "Human", "refseq_name": "solute carrier family 2, facilitated glucose transporter member 4", "refseq_ac": [ { "id": "NP_001033", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033", "type": "external" } ], "gene_names_uniprotkb": "SLC2A4; GLUT4", "gene_names_refseq": "GLUT4; SLC2A4", "protein_names_uniprotkb": "Solute carrier family 2, facilitated glucose transporter member 4; GLUT-4; Glucose transporter type 4, insulin-responsive", "protein_names_refseq": "GLUT-4; glucose transporter type 4, insulin-responsive; insulin-responsive glucose transporter type 4; solute carrier family 2 (facilitated glucose transporter), member 4; solute carrier family 2, facilitated glucose transporter member 4", "tax_id": 9606, "disease": "coronary artery disease (Disease Ontology:DOID:3393); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6517); (R-HSA-1445148); (R-HSA-189200); (R-HSA-381340)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10075656;10425206;10821868;10860667;10970791;10987651;11095972;11133510;11237011;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11842083;11872672;11994746;12213831;12504846;12590146;12829629;12885248;1397719;1415574;14614622;14739288;14997204;15033637;1521731;15273253;15607332;15850785;15902306;15919790;15919796;15971998;16154905;16380219;16550171;16647043;16880201;17011499;17050778;17369524;17382906;1756912;17635959;17980149;17995453;18063724;18327257;18669648;18931025;19013499;19043829;19115207;19172745;1918382;19252894;19349973;20101261;20616166;20631154;20701589;20837646;20937701;21107422;21454505;21454690;21907143;21940664;22212718;22521588;23239344;23481700;2550440;25576301;2656669;26650681;28057756;29557506;31154438;31844290;33592498;33968037;36241641;38126809;38136609;38566151;39125765;39182843;7814014;7916714;8094051;8300557;8325954;8457197;8643605;8664345;8706692;8770873;8970730;9065481;9354798;9454824;9725807;9751501;9836620", "class_list": "glycogene", "function": "GLUT4 localisation with the plasma membrane is unaffected by an increase in plasma free fatty acid availability. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin-Activated Signaling Pathway and GLUT4 Membrane Translocation in hiPSC-Derived Cardiomyocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Insulin-regulated facilitative glucose transporter, which plays a key role in removal of glucose from circulation. Response to insulin is regulated by its intracellular localization: in the absence of insulin, it is efficiently retained intracellularly within storage compartments in muscle and fat cells. Upon insulin stimulation, translocates from these compartments to the cell surface where it transports glucose from the extracellular milieu into the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Phosphorylation of Syntaxin 4 by the Insulin Receptor Drives Exocytic SNARE Complex Formation to Deliver GLUT4 to the Cell Surface. Publication Status: Online-Only, [RefSeq, PubMed]; Picalm, a novel regulator of GLUT4-trafficking in adipose tissue., [RefSeq, PubMed]; Regulated dynamic subcellular GLUT4 localization revealed by proximal proteome mapping in human muscle cells., [RefSeq, PubMed]; This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 588, "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": "Q05BQ3;Q14CX2", "ec_number_list": [], "go_molecular_function": "GO:0055056 D-glucose transmembrane transporter activity;GO:0015304 D-glucose uniporter activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0070837 dehydroascorbic acid transport;GO:1904659 D-glucose transmembrane transport;GO:0007611 learning or memory;GO:0032869 cellular response to insulin stimulus;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P14672-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN79-1", "uniprot_id": [ { "id": "SOX13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN79", "type": "external" } ], "mass": 69228.0, "length": 622, "protein_name": "Transcription factor SOX-13", "gene_name": "SOX13", "organism": "Human", "refseq_name": "transcription factor SOX-13", "refseq_ac": [ { "id": "NP_005677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005677", "type": "external" } ], "gene_names_uniprotkb": "SOX13", "gene_names_refseq": "ICA12; SOX13; Sox-13", "protein_names_uniprotkb": "Transcription factor SOX-13; Islet cell antigen 12; SRY (Sex determining region Y)-box 13; Type 1 diabetes autoantigen ICA12", "protein_names_refseq": "SRY (sex determining region Y)-box 13; SRY-box 13; SRY-related HMG-box gene 13; islet cell antibody 12; islet cell antigen 12; transcription factor SOX-13; type 1 diabetes autoantigen ICA12", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:9580); (R-HSA-3769402)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10549281;10871192;10898789;10921920;10944533;11237011;11691915;12408824;12408825;12712206;14600025;14685266;15132997;15327769;15525529;16510874;17218525;17412698;17698607;17875931;18378692;18452278;18456656;18573912;18598779;18669648;18691976;18819930;19047045;19364920;19413330;19590513;19664994;19928349;19940019;20028982;20068231;21406692;22304967;23186163;24291232;27600516;28411811;29242379;29393594;29557506;30620550;30833945;31154438;31217245;31844290;32157095;32161166;32488085;33968037;34171305;35251023;35254053;35611828;36010968;36241641;36284347;37149693;37522976;38270621;38838015;39531497;9421502", "class_list": "", "function": "Hsa_circ_0071589 aggravates stemness and oxaliplatin resistance in colorectal cancer through sponging miR-133b to upregulate SOX13 expression., [RefSeq, PubMed]; Sex-determining Region Y-box transcription factor 13 promotes breast cancer cell proliferation and glycolysis by activating the tripartite motif containing 11-mediated Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; Sox13 and M2-like leukemia-associated macrophages contribute to endogenous IL-34 caused accelerated progression of acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; THAP9-AS1 promotes nasopharyngeal carcinoma progression through targeted regulation of the miR-185-5p/SOX13 axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that binds to DNA at the consensus sequence 5'-AACAAT-3' (PubMed:10871192). Binds to the proximal promoter region of the myelin protein MPZ gene, and may thereby be involved in the differentiation of oligodendroglia in the developing spinal tube (By similarity). Binds to the gene promoter of MBP and acts as a transcriptional repressor (By similarity). Binds to and modifies the activity of TCF7/TCF1, thereby inhibiting transcription and modulates normal gamma-delta T-cell development and differentiation of IL17A expressing gamma-delta T-cells (By similarity). Regulates expression of BLK in the differentiation of IL17A expressing gamma-delta T-cells (By similarity). Promotes brown adipocyte differentiation (By similarity). Inhibitor of WNT signaling (PubMed:20028982)., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B4E2B0;O95275;O95826;Q3KQV7;Q5SXX1;Q9UHW7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO: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:0090090 negative regulation of canonical Wnt signaling pathway;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9UN79-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13098-4", "uniprot_id": [ { "id": "CSN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13098", "type": "external" } ], "mass": 55537.0, "length": 491, "protein_name": "COP9 signalosome complex subunit 1", "gene_name": "GPS1", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 1 isoform 6", "refseq_ac": [ { "id": "NP_001308021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308021", "type": "external" } ], "gene_names_uniprotkb": "GPS1; COPS1; CSN1", "gene_names_refseq": "COPS1; CSN1; GPS1; SGN1", "protein_names_uniprotkb": "COP9 signalosome complex subunit 1; G protein pathway suppressor 1; GPS-1; JAB1-containing signalosome subunit 1; Protein MFH; SGN1; Signalosome subunit 1", "protein_names_refseq": "COP9 signalosome complex subunit 1 isoform 6; COP9 signalosome complex subunit 1; JAB1-containing signalosome subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2873); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664); (R-HSA-9013422)", "pathway_count": 6, "publication_count": 321, "publication_id_list": "10097102;10391953;10436022;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10944529;10973499;10983987;11069780;11071885;11076969;11114242;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11454738;11454741;11585840;11588219;11733065;11904382;11919637;11927540;11961546;11988742;12086608;12101228;12186903;12208738;12221107;12234931;12324474;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12682069;12717448;12732143;12759363;12815074;12816948;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15134832;15282312;1535555;15361859;15367669;15473838;15537541;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;15811629;15882621;15964821;16115862;16159959;16171779;16223728;16401342;16459302;16460808;16473935;16516836;16547496;16647857;16678110;16707496;16723738;16751180;16790436;16903783;16943200;16964243;17081101;17081983;17132228;17183367;17220875;17267500;17287340;17290000;17332328;17360967;17456551;17497243;17522231;17525332;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18614043;18669648;18775313;18775314;18776931;18805092;18819912;18826954;18835386;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19413330;19609301;19617556;19651622;19664994;19664995;1968060;19690332;19696798;19732400;19748355;19853559;20068231;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21406692;21447816;21463634;21778237;21863050;21940857;21995445;22118460;22118466;22306028;22357968;22424782;22466610;22466611;22466612;22466964;22484487;22537386;2257624;22902626;22942912;22959436;23045548;23186163;23201271;23319653;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24127601;24186068;24366543;24384571;24608665;24636985;24680432;24714562;24715725;24746795;24793695;24793696;25154395;25314029;25349211;25355947;25435140;25505266;25531226;25576301;25645385;25880248;26154972;26344709;26403691;26456823;26460955;26632597;26829388;26906416;26992070;27030794;27222660;27314390;27565346;27846572;28115426;28467828;28510447;28904123;2890644;29153394;29493099;29557506;30410026;30484775;30610225;30896450;31217245;31431478;31844290;31871319;32005965;32157095;32284348;32350084;32355176;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33200803;33298915;33392160;33444648;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;3417785;34185709;34229054;34357683;34405274;34509645;34725712;34932366;35051231;35138101;35318648;35561310;35580925;35913642;36010968;36215666;36241641;36284347;37938771;38253038;38289496;38665916;40596516;40914422;7569928;7822302;8078911;8168482;8553074;8837779;8876179;8943324;9169477;9303539;9326587;9535219;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "Bioinformatics analysis of GPS1 expression and biological function in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CSN1 facilitates proliferation and migration of hepatocellular carcinoma cells by upregulating cyclin A2 expression., [RefSeq, PubMed]; Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Suppresses G protein- and mitogen-activated protein kinase-mediated signal transduction., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The N-terminal half of CSN1/GPS1 is required to repress c-fos expression and to inhibit AP-1 and SRE transactivation, while the C-terminal half allows integration of the protein into the COP9 signalosome., [RefSeq, PubMed]; This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8NA10;Q9BWL1", "ec_number_list": [], "go_molecular_function": "GO:0005095 GTPase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0008180 COP9 signalosome", "go_biological_process": "GO:0007254 JNK cascade;GO:0045116 protein neddylation;GO:0000338 protein deneddylation;GO:2000434 regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 32.4, "record_id": "Q13098-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29084-1", "uniprot_id": [ { "id": "T2EB_HUMAN", "url": "https://www.uniprot.org/uniprot/P29084", "type": "external" } ], "mass": 33044.0, "length": 291, "protein_name": "Transcription initiation factor IIE subunit beta", "gene_name": "GTF2E2", "organism": "Human", "refseq_name": "transcription initiation factor IIE subunit beta isoform 1", "refseq_ac": [ { "id": "NP_002086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002086", "type": "external" } ], "gene_names_uniprotkb": "GTF2E2; TF2E2", "gene_names_refseq": "FE; GTF2E2; TF2E2; TFIIE-B; TTD6", "protein_names_uniprotkb": "Transcription initiation factor IIE subunit beta; General transcription factor IIE subunit 2; TFIIE-beta", "protein_names_refseq": "TFIIE beta subunit; TFIIE-beta; general transcription factor IIE, polypeptide 2, beta 34kDa; transcription initiation factor IIE subunit beta isoform 1; transcription initiation factor IIE subunit beta", "tax_id": 9606, "disease": "nonphotosensitive trichothiodystrophy 6 (Disease Ontology:DOID:0111872)", "pathway": " (hsa:2961); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6807505); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 10, "publication_count": 134, "publication_id_list": "10022900;10024882;10199401;10723029;10792464;11237011;11433015;11486021;11739720;11784853;11856838;11859374;11884399;12414730;12574128;12676794;1310361;14701755;1535687;15489290;16239144;16308568;16901896;1739980;18079403;18212344;1829677;19106100;1939271;1956398;1956404;19667075;20068231;20457598;2125285;22137580;22231121;22252320;22441827;23166507;23186163;23932780;24097444;24270878;2449431;24714562;24715725;24997600;25576301;25645385;25675981;26154972;26728094;26992070;26996949;27193682;27846572;27862975;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29437277;2944599;29557506;29632046;29632711;29786170;29789417;30315122;30429286;31373491;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34185709;34509645;34581812;34853466;34932366;34944018;35051231;35580925;36241641;36580660;37217939;37845349;37938771;40596516;7151173;7601352;7651391;7660122;7660129;7660130;7715707;8156590;8253082;8330735;8339931;8370526;8465201;8490964;8628262;8668525;8946909;9009278;9153304;9188510;9256425;9353262;9405375;9407024;9450929;9489704;9705341;9832505", "class_list": "", "function": "GTF2E2 downregulated by miR-340-5p inhibits the malignant progression of glioblastoma., [RefSeq, PubMed]; GTF2E2 is a novel biomarker for recurrence after surgery and promotes progression of esophageal squamous cell carcinoma via miR-139-5p/GTF2E2/FUS axis., [RefSeq, PubMed]; Mayaro Virus Non-Structural Protein 2 Circumvents the Induction of Interferon in Part by Depleting Host Transcription Initiation Factor IIE Subunit 2. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleolar TFIIE plays a role in ribosomal biogenesis and performance., [RefSeq, PubMed]; Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DSV2;Q9H2B9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005673 transcription factor TFIIE complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P29084-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14154-1", "uniprot_id": [ { "id": "DELE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14154", "type": "external" } ], "mass": 55920.0, "length": 515, "protein_name": "DAP3-binding cell death enhancer 1", "gene_name": "DELE1", "organism": "Human", "refseq_name": "death ligand signal enhancer precursor", "refseq_ac": [ { "id": "NP_001136075", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136075", "type": "external" } ], "gene_names_uniprotkb": "DELE1; DELE; KIAA0141", "gene_names_refseq": "DELE1(L); DELE1; DELE; KIAA0141", "protein_names_uniprotkb": "DAP3-binding cell death enhancer 1; DAP3-binding cell death enhancer 1, long form; DELE1(L); Death ligand signal enhancer", "protein_names_refseq": "DAP3-binding cell death enhancer 1, long form; death ligand signal enhancer precursor; death ligand signal enhancer", "tax_id": 9606, "disease": "", "pathway": " (hsa:9812); (R-HSA-9840373)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11237011;20563667;20877624;23481700;24715725;25418920;25433032;25576301;25880248;26923599;26992070;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;30410026;31844290;32132706;32132707;32157095;32387766;32938616;33141586;33298915;33717175;33912179;33968037;35051231;35163244;35388015;35561310;37327776;37550454;37832546;38102204;38253038;38297121;38340717", "class_list": "", "function": "DELE1 haploinsufficiency causes resistance to mitochondrial stress-induced apoptosis in monosomy 5/del(5q) AML., [RefSeq, PubMed]; Identifies a novel DAP3-binding protein termed death ligand signal enhancer (DELE); demonstrates the biological significance of DELE for apoptosis signal mediated by death receptors, [RefSeq, PubMed]; Mitochondrial stress is relayed to the cytosol by an OMA1-DELE1-HRI pathway; the OMA1-DELE1-HRI pathway represents a potential therapeutic target that could enable fine-tuning of the integrated stress response for beneficial outcomes in diseases that involve mitochondrial dysfunction, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase activator generated by protein cleavage in response to mitochondrial stress, which accumulates in the cytosol and specifically binds to and activates the protein kinase activity of EIF2AK1/HRI (PubMed:32132706, PubMed:32132707, PubMed:37327776, PubMed:37550454, PubMed:37832546, PubMed:38340717). It thereby activates the integrated stress response (ISR): EIF2AK1/HRI activation promotes eIF-2-alpha (EIF2S1) phosphorylation, leading to a decrease in global protein synthesis and the induction of selected genes, including the transcription factor ATF4, the master transcriptional regulator of the ISR (PubMed:32132706, PubMed:32132707, PubMed:37327776, PubMed:37550454, PubMed:37832546). Also acts as an activator of PRKN-independent mitophagy: activates the protein kinase activity of EIF2AK1/HRI in response to mitochondrial damage, promoting eIF-2-alpha (EIF2S1) phosphorylation, leading to mitochondrial localization of EIF2S1 followed by induction of mitophagy (PubMed:38340717)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Protein kinase activator that activates the ISR in response to iron deficiency: iron deficiency impairs mitochondrial import, promoting DELE1 localization at the mitochondrial surface, where it binds and activates EIF2AK1/HRI to trigger the ISR., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Protein kinase activator that acts as a key activator of the integrated stress response (ISR) following various stresses, such as iron deficiency, mitochondrial stress or mitochondrial DNA breaks (PubMed:32132706, PubMed:32132707, PubMed:35388015, PubMed:37327776, PubMed:37550454, PubMed:37832546, PubMed:38340717). Detects impaired protein import and processing in mitochondria, activating the ISR (PubMed:35388015). May also required for the induction of death receptor-mediated apoptosis through the regulation of caspase activation (PubMed:20563667)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The mitochondrial protease OMA1 and the poorly characterized protein DELE1, together with HRI, constitute the missing pathway that is triggered by mitochondrial stress; these findings could be used to inform future strategies to modulate the cellular response to mitochondrial dysfunction in the context of human 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q969R4;Q96EU9", "ec_number_list": [], "go_molecular_function": "GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005829 cytosol", "go_biological_process": "GO:1901526 positive regulation of mitophagy;GO:0006974 DNA damage response;GO:0033554 cellular response to stress;GO:0008625 extrinsic apoptotic signaling pathway via death domain receptors;GO:1990641 response to iron ion starvation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q14154-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92786-1", "uniprot_id": [ { "id": "PROX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92786", "type": "external" } ], "mass": 83203.0, "length": 737, "protein_name": "Prospero homeobox protein 1", "gene_name": "PROX1", "organism": "Human", "refseq_name": "prospero homeobox protein 1", "refseq_ac": [ { "id": "NP_001257545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257545", "type": "external" } ], "gene_names_uniprotkb": "PROX1", "gene_names_refseq": "PROX1", "protein_names_uniprotkb": "Prospero homeobox protein 1; Homeobox prospero-like protein PROX1; PROX-1", "protein_names_refseq": "homeobox prospero-like protein PROX1; prospero homeobox protein 1; prospero-related homeobox 1", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); brain cancer (Disease Ontology:DOID:1319); cancer (Disease Ontology:DOID:162); status epilepticus (Disease Ontology:DOID:1824); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5629)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;11719431;11850194;20166139;22733308;22733734;23723244;24275569;25755297;27862975;29393594;29557506;29786170;30484775;32157095;35051231;35580925;38244581;38277016;38901665;39066858;8812486", "class_list": "", "function": "PROX1 drives neuroendocrine plasticity and liver metastases in prostate cancer., [RefSeq, PubMed]; PROX1 interaction with alpha-SMA-rich cancer-associated fibroblasts facilitates colorectal cancer progression and correlates with poor clinical outcomes and therapeutic resistance., [RefSeq, PubMed]; PROX1 is a regulator of neuroendocrine-related gene expression in lung carcinoid., [RefSeq, PubMed]; Prox 1 is expressed in both quiescent and proliferating lymphatic endothelial cells in the liver. Unlike the putative lymphatic marker LYVE-1, Prox 1 is not expressed in liver sinusoidal endothelial cells. GeneRIF: Prox 1 is expressed in both quiescent and proliferating lymphatic endothelial cells in the adult human and mouse liver. Unlike the putative lymphatic marker LYVE-1, Prox 1 is not expressed in liver sinusoidal endothelial cells., [RefSeq, PubMed]; Prox1 Suppresses Proliferation and Drug Resistance of Retinoblastoma Cells via Targeting Notch1., [RefSeq, PubMed]; Prox1 is differentially localized during lens development, [RefSeq, PubMed]; The protein encoded by this gene is a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]; Transcription factor involved in developmental processes such as cell fate determination, gene transcriptional regulation and progenitor cell regulation in a number of organs. Plays a critical role in embryonic development and functions as a key regulatory protein in neurogenesis and the development of the heart, eye lens, liver, pancreas and the lymphatic system. Involved in the regulation of the circadian rhythm. Represses: transcription of the retinoid-related orphan receptor RORG, transcriptional activator activity of RORA and RORG and the expression of RORA/G-target genes including core clock components: BMAL1, NPAS2 and CRY1 and metabolic genes: AVPR1A and ELOVL3., [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": 9, "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": "A6NK29;A8K2B1;Q5SW76;Q8TB91", "ec_number_list": [], "go_molecular_function": "GO:0050693 LBD domain binding;GO:0003677 DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0060214 endocardium formation;GO:0060059 embryonic retina morphogenesis in camera-type eye;GO:0060042 retina morphogenesis in camera-type eye;GO:0021516 dorsal spinal cord development;GO:0046619 lens placode formation involved in camera-type eye formation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q92786-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11166-1", "uniprot_id": [ { "id": "GTR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P11166", "type": "external" } ], "mass": 54084.0, "length": 492, "protein_name": "Solute carrier family 2, facilitated glucose transporter member 1", "gene_name": "SLC2A1", "organism": "Human", "refseq_name": "solute carrier family 2, facilitated glucose transporter member 1", "refseq_ac": [ { "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507", "type": "external" } ], "gene_names_uniprotkb": "SLC2A1; GLUT1", "gene_names_refseq": "CSE; DYT17; DYT18; DYT9; EIG12; GLUT-1; GLUT1DS; GLUT1; GLUT; HTLVR; PED; SDCHCN; SLC2A1", "protein_names_uniprotkb": "Solute carrier family 2, facilitated glucose transporter member 1; GLUT-1; Glucose transporter type 1, erythrocyte/brain; HepG2 glucose transporter", "protein_names_refseq": "choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity); dystonia gene 18; dystonia gene 9; glucose transporter type 1, erythrocyte/brain; hepG2 glucose transporter; human T-cell leukemia virus (I and II) receptor; receptor for HTLV-1 and HTLV-2; solute carrier family 2 (facilitated glucose transporter), member 1; solute carrier family 2, facilitated glucose transporter member 1", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); myelomeningocele (Disease Ontology:DOID:0060326); glucose transporter type 1 deficiency syndrome (Disease Ontology:DOID:0070560); glucose transporter type 1 deficiency syndrome 1 (Disease Ontology:DOID:0070561); dystonia 9 (Disease Ontology:DOID:0090044); glucose transporter type 1 deficiency syndrome 2 (Disease Ontology:DOID:0090045); obsolete idiopathic generalized epilepsy 12 (Disease Ontology:DOID:0111313); Hirschsprung's disease (Disease Ontology:DOID:10487); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); hypothyroidism (Disease Ontology:DOID:1459); childhood absence epilepsy (Disease Ontology:DOID:1825); nephroblastoma (Disease Ontology:DOID:2154); hemangioma (Disease Ontology:DOID:255); middle cerebral artery infarction (Disease Ontology:DOID:3525); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); hereditary cryohydrocytosis with reduced stomatin (MONDO:MONDO:0012143)", "pathway": " (hsa:6513); (R-HSA-189200); (R-HSA-196836); (R-HSA-422356); (R-HSA-5619043); (R-HSA-5653890)", "pathway_count": 6, "publication_count": 250, "publication_id_list": "10.1101/2023.09.13.557529;10194514;10206966;10227690;10342826;10424882;10471399;10526167;10556483;10556521;10759149;10773014;10783391;10821868;10860667;10862609;10866047;10868950;10954735;10970791;10980529;10987651;11078440;11078469;11133510;11136715;11237011;11245466;11247674;11264248;11389907;11396616;11419947;11425315;11577798;11583593;11603379;11681785;11716850;11741323;11780755;11815450;11815460;11815462;11815463;11832379;11873862;11947697;11994746;12196472;12325075;12403834;12475777;12504846;12590146;12684222;12764427;12885248;12887316;1309948;13459201;1415574;14514350;14605501;14614622;14622599;14739288;14997204;15000528;15033637;15305887;15504896;15572341;15585596;15607332;15622525;15678092;15902306;15970797;16154905;16332676;16443778;16513675;16550171;16556766;16714477;16868246;17021801;17050778;17081065;17259518;17380317;17525332;1756912;17635959;17660294;17900700;17919183;18063724;18162464;18245775;18327257;18346985;18347014;18403583;18451999;18577546;18578522;18596924;18606970;18691976;18984734;1918382;19349973;19449892;19587354;19630075;19651622;19664994;19798636;19901175;19996082;20068231;20086079;20129935;20221955;20574033;20616166;20621801;20687207;20830593;21107422;21204808;21406692;21791420;21832227;21940664;22212718;22282645;22299025;22492876;22521588;2271582;23186163;23219802;23280796;23563491;23992284;24190977;24275569;24847886;25101238;25502872;25576301;25645385;25957687;25982116;26517901;2656669;26650681;26811146;27078104;27846572;27920218;2834252;28467828;28832583;28904123;29108130;29242379;29314611;29393594;29508533;29557506;29789417;30192525;30197081;30573663;30779550;30799198;31020640;31067468;31154438;31611695;31844290;32157095;32350084;32357974;32488085;32502341;32860739;32938616;32983136;33043033;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34019948;34357683;34725712;35051231;35083852;35154160;3517644;35251023;35561310;35580925;35810171;36215666;36241641;36284347;37074911;3839598;38803061;38831321;38914025;3923453;39390043;40367522;40596516;41018975;6019353;6424440;6435940;7589840;7593639;7641683;7668255;7929812;8027028;806951;8315383;8457197;8513896;8675920;8808284;8987985;8997178;9228080;9350615;9354798;9462754;9726229;9739505;9751501;9914469", "class_list": "glycogene", "function": "Dysregulated GLUT1 results in the pathogenesis of preeclampsia by impairing the function of trophoblast cells. Publication Status: Online-Only, [RefSeq, PubMed]; Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:10227690, PubMed:10954735, PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:32860739). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690). In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity). Required for mesendoderm differentiation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; GLUT-1 is a receptor for HTLV, [RefSeq, PubMed]; GLUT1 promotes cell proliferation via binds and stabilizes phosphorylated EGFR in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Glucose transporter-1 deficiency syndrome with extreme phenotypic variability in a five-generation family carrying a novel SLC2A1 variant., [RefSeq, PubMed]; Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome., [RefSeq, PubMed]; This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 788, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 20, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K9S6;B2R620;D3DPX0;O75535;Q0P512;Q147X2", "ec_number_list": [], "go_molecular_function": "GO:0033300 dehydroascorbic acid transmembrane transporter activity;GO:0042910 xenobiotic transmembrane transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0042802 identical protein binding;GO:0019900 kinase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0070837 dehydroascorbic acid transport;GO:1904659 D-glucose transmembrane transport;GO:0001666 response to hypoxia;GO:0021987 cerebral cortex development;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 26.3, "record_id": "P11166-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21291-1", "uniprot_id": [ { "id": "CSRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21291", "type": "external" } ], "mass": 20567.0, "length": 193, "protein_name": "Cysteine and glycine-rich protein 1", "gene_name": "CSRP1", "organism": "Human", "refseq_name": "cysteine and glycine-rich protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001180499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180499", "type": "external" } ], "gene_names_uniprotkb": "CSRP1; CSRP; CYRP", "gene_names_refseq": "CRP1; CRP; CSRP1; CSRP; CYRP; D1S181E; HEL-141; HEL-S-286", "protein_names_uniprotkb": "Cysteine and glycine-rich protein 1; CRP1; CRP; Cysteine-rich protein 1; Epididymis luminal protein 141; HEL-141", "protein_names_refseq": "LIM-domain protein; cysteine and glycine-rich protein 1 isoform 3; cysteine-rich protein 1; epididymis luminal protein 141; epididymis secretory protein Li 286; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); depressive disorder (Disease Ontology:DOID:1596); end stage renal disease (Disease Ontology:DOID:783)", "pathway": " (hsa:1465); (R-HSA-5660489)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "11237011;1374386;16408927;16964243;17081983;17322306;17486081;18212344;18220336;18452278;18491316;18669648;18767875;19415658;19608861;19651622;19664994;19664995;19690332;20058876;20068231;20166139;2115670;21386983;21406692;21993680;23186163;23481700;24275569;24714562;24715725;25576301;25645385;26154972;26375851;26824222;26924529;26992070;27600516;27862975;28218747;28657654;28832583;28834231;28904123;29237092;29242379;29393594;29437277;29493099;29508533;29557506;29786170;29789417;30192525;30410026;30484775;30524438;30833945;31154438;31222486;31373491;31492838;31717259;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33214551;33592498;33968037;33981976;34019948;34087483;34171305;34357683;34509645;35051231;35254053;35580925;36010968;36215666;36241641;36284347;37113556;37217939;37938771;38665916;39534244;40596516;9806846", "class_list": "", "function": "CSRP1 Promotes Colon Adenocarcinoma Growth and Serves as an Independent Risk Biomarker for Worse Prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Could play a role in neuronal development., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Hypomethylation of wingless-related MMTV integration site 5A (WNT5A), S100 calcium-binding protein P (S100P) and cysteine-rich protein 1(CRIP1) was confirmed in the cancer cells by bisulfite sequencing., [RefSeq, PubMed]; This gene encodes a member of the cysteine-rich protein (CSRP) family. This gene family includes a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K268;Q5U0J2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0008307 structural constituent of muscle;GO:0042805 actinin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005925 focal adhesion;GO:0070062 extracellular exosome;GO:0030018 Z disc", "go_biological_process": "GO:0070527 platelet aggregation;GO:0045214 sarcomere organization;GO:0060537 muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P21291-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17538-1", "uniprot_id": [ { "id": "CTRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P17538", "type": "external" } ], "mass": 27713.0, "length": 263, "protein_name": "Chymotrypsinogen B", "gene_name": "CTRB1", "organism": "Human", "refseq_name": "chymotrypsinogen B isoform 2 precursor", "refseq_ac": [ { "id": "NP_001316119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316119", "type": "external" } ], "gene_names_uniprotkb": "CTRB1; CTRB", "gene_names_refseq": "CTRB1; CTRB", "protein_names_uniprotkb": "Chymotrypsinogen B; 3.4.21.1", "protein_names_refseq": "chymotrypsinogen B isoform 2 precursor; chymotrypsinogen B", "tax_id": 9606, "disease": "restless legs syndrome (Disease Ontology:DOID:0050425); nicotine dependence (Disease Ontology:DOID:0050742); absence epilepsy (Disease Ontology:DOID:0070309); Parkinsonism (Disease Ontology:DOID:0080855); essential tremor 1 (Disease Ontology:DOID:0111428); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); amnestic disorder (Disease Ontology:DOID:10914); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); pancreatitis (Disease Ontology:DOID:4989); essential tremor (Disease Ontology:DOID:4990); schizophrenia (Disease Ontology:DOID:5419); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1504); (R-HSA-1592389); (R-HSA-9758881)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10080186;10887099;11237011;11830519;12590260;1311314;1371271;1390635;14576052;1480033;1783204;17954916;17990953;19136951;20237569;2159879;2169257;2176865;22547309;22631584;2269296;22900303;22922874;2383557;2546891;2551898;2557753;27456980;28754779;2917002;29557506;30523278;3058116;30777892;32350084;33036922;33845046;36284347;4001945;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8663255;8804434;9261109;9346290;9422744;9578462;9632662", "class_list": "", "function": "An inversion in the CTRB1-CTRB2 locus modifies risk for Alcoholic and Non-alcoholic Chronic Pancreatitis indicating that common pathomechanisms are involved in these inflammatory disorders., [RefSeq, PubMed]; Sequencing of the complex CTRB1-CTRB2 locus in chronic pancreatitis., [RefSeq, PubMed]; This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB1 gene is located head-to-head with the related CTRB2 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 in intron 1 of the CTRB2 gene is diagnostic for this inversion. This CTRB1 gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jan 2021]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.4.21.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0007586 digestion", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P17538-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5P3-1", "uniprot_id": [ { "id": "RAI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5P3", "type": "external" } ], "mass": 57180.0, "length": 530, "protein_name": "Retinoic acid-induced protein 2", "gene_name": "RAI2", "organism": "Human", "refseq_name": "retinoic acid-induced protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001166203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166203", "type": "external" } ], "gene_names_uniprotkb": "RAI2", "gene_names_refseq": "RAI2", "protein_names_uniprotkb": "Retinoic acid-induced protein 2", "protein_names_refseq": "retinoic acid-induced protein 2 isoform 2; retinoic acid-induced protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10742)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10049581;11237011;24715725;25716347;27862975;28832583;28834231;29557506;29786170;30429286;31154438;31848261;32157095;32265295;33782811;34087483;35051231;35580925;35652463;35939884", "class_list": "", "function": "EZH2 affects malignant progression and DNA damage repair of lung adenocarcinoma cells by regulating RAI2 expression., [RefSeq, PubMed]; Expression Patterns and Corepressor Function of Retinoic Acid-induced 2 in Prostate Cancer., [RefSeq, PubMed]; Low RAI2 expression is a marker of poor prognosis in breast cancer., [RefSeq, PubMed]; Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked cognitive disability, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]., [RefSeq]; We specified the role of the RAI2 protein to function as a transcriptional regulator that controls the expression of several key regulators of breast epithelial integrity and cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B1B1K2;B4DQM9;E7EMN4;Q8N6X7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9Y5P3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M42-1", "uniprot_id": [ { "id": "CU129_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M42", "type": "external" } ], "mass": 15208.0, "length": 142, "protein_name": "Putative uncharacterized protein encoded by LINC00479", "gene_name": "LINC00479", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00479; C21orf129; PRED76", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00479", "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": "D3DSJ3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q96M42-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT78-1", "uniprot_id": [ { "id": "CSN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT78", "type": "external" } ], "mass": 46269.0, "length": 406, "protein_name": "COP9 signalosome complex subunit 4", "gene_name": "COPS4", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 4 isoform 2", "refseq_ac": [ { "id": "NP_001244935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244935", "type": "external" } ], "gene_names_uniprotkb": "COPS4; CSN4", "gene_names_refseq": "COPS4; CSN4; SGN4", "protein_names_uniprotkb": "COP9 signalosome complex subunit 4; JAB1-containing signalosome subunit 4; SGN4; Signalosome subunit 4", "protein_names_refseq": "COP9 constitutive photomorphogenic homolog subunit 4; COP9 constitutive photomorphogenic-like protein subunit 4; COP9 signalosome complex subunit 4 isoform 2; COP9 signalosome complex subunit 4; JAB1-containing signalosome subunit 4; signalosome subunit 4; testis tissue sperm-binding protein Li 42a", "tax_id": 9606, "disease": "", "pathway": " (hsa:51138); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664); (R-HSA-9013422)", "pathway_count": 6, "publication_count": 299, "publication_id_list": "10.1101/2023.09.13.557529;10097102;10391953;10436022;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10944529;10973499;10983987;11069780;11071885;11076969;11237011;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11454738;11454741;11585840;11588219;11733065;11824616;11904382;11919637;11927540;11961546;11988742;12086608;12101228;12186903;12208738;12221107;12234931;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12682069;12717448;12732143;12759363;12815074;12816948;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15134832;15282312;1535555;15361859;15367669;15473838;15537541;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;15811629;15882621;15964821;16159959;16171779;16223728;16401342;16459302;16460808;16473935;16516836;16547496;16647857;16678110;16707496;16723738;16751180;16790436;16903783;16943200;17081101;17132228;17183367;17220875;17267500;17290000;17332328;17360967;17456551;17497243;17522231;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18491316;18614043;18775313;18775314;18776931;18805092;18819912;18826954;18835386;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19608861;19609301;19617556;1968060;19696798;19732400;19748355;19853559;20068231;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21447816;21463634;21778237;21863050;21940857;21995445;22118460;22118466;22306028;22357968;22466610;22466611;22466612;22466964;22484487;22537386;2257624;22902626;22942912;22959436;23045548;23201271;23319653;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23783831;23912815;23986495;24076655;24127601;24186068;24366543;24384571;24608665;24636985;24680432;24746795;24793695;24793696;25154395;25314029;25349211;25355947;25418920;25435140;25531226;25576301;25645385;26030138;26154972;26344709;26403691;26456823;26460955;26632597;26829388;26906416;26992070;27030794;27222660;27314390;27565346;27862975;27920218;28115426;28228285;28510447;28832583;28834231;28904123;2890644;29153394;29242379;29331515;29393594;29493099;29557506;29632046;29786170;29789417;30315122;30429286;30484775;30610225;30896450;31154438;31431478;31530632;31844290;31848261;31871319;32005965;32157095;32284348;32350084;32355176;32357974;32387766;32502341;32938616;32983136;33298915;33444648;33537174;33592498;33691108;33912179;33968037;33981976;34019948;34171305;3417785;34185709;34357683;34932366;35051231;35561310;35580925;36010968;36284347;37938771;38665916;40914422;7569928;7822302;8078911;8168482;8553074;8837779;8876179;9169477;9303539;9326587;9535219;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. Also involved in the deneddylation of non-cullin subunits such as STON2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1, IRF8/ICSBP and SNAPIN, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 5, "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": "B3KN88;B3KST5;Q561W7;Q9NW31;Q9Y677", "ec_number_list": [], "go_molecular_function": "GO:0019784 deNEDDylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0045116 protein neddylation;GO:0000338 protein deneddylation;GO:2000434 regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "Q9BT78-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBT7-1", "uniprot_id": [ { "id": "CTNL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBT7", "type": "external" } ], "mass": 81896.0, "length": 734, "protein_name": "Alpha-catulin", "gene_name": "CTNNAL1", "organism": "Human", "refseq_name": "alpha-catulin isoform b", "refseq_ac": [ { "id": "NP_001273903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273903", "type": "external" } ], "gene_names_uniprotkb": "CTNNAL1", "gene_names_refseq": "ACRP; CLLP; CTNNAL1; alpha-CATU", "protein_names_uniprotkb": "Alpha-catulin; ACRP; Alpha-catenin-related protein; Catenin alpha-like protein 1", "protein_names_refseq": "alpha-catenin-related protein; alpha-catulin isoform b; alpha-catulin; alpha2-catulin; catenin (cadherin-associated protein), alpha-like 1; catenin alpha-like protein 1", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:8727)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "10542337;11237011;12270917;12694354;18669648;19054851;19664994;22424782;22577143;23186163;24715725;25418920;25576301;25645385;25880248;26811146;26992070;27600516;27920218;28063628;28218747;28228285;28446606;28649982;28832583;28904123;29242379;29393594;29437277;29557506;29632046;29789417;30315122;30429286;30524438;31154438;31217245;31844290;32157095;32265295;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34105348;34171305;34357683;34405274;35051231;35154481;35580925;36010968;36241641;36284347;37715489;37938771;9806841", "class_list": "", "function": "Abnormal expression of alpha-catenin was seen in mucoepidermoid carcinoma., [RefSeq, PubMed]; Alpha-Catulin promotes cancer stemness by antagonizing WWP1-mediated KLF5 degradation in lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway., [RefSeq, PubMed]; May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1)., [UniProtKB]; Results show that alpha-catulin co-expression leads to increased Lbc-induced serum response factor activation and may modulate Rho pathway signaling in vivo by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "B5BU47;O76084;Q53FQ2;Q5JTQ7;Q5JTQ8;Q9Y401", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0007155 cell adhesion;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9UBT7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17302-1", "uniprot_id": [ { "id": "CXA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P17302", "type": "external" } ], "mass": 43008.0, "length": 382, "protein_name": "Gap junction alpha-1 protein", "gene_name": "GJA1", "organism": "Human", "refseq_name": "gap junction alpha-1 protein", "refseq_ac": [ { "id": "NP_000156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000156", "type": "external" } ], "gene_names_uniprotkb": "GJA1; GJAL", "gene_names_refseq": "AVSD3; CMDR; CX43; EKVP3; EKVP; GJA1; GJAL; HLHS1; HSS; ODDD; PPKCA", "protein_names_uniprotkb": "Gap junction alpha-1 protein; Connexin-43; Cx43; Gap junction 43 kDa heart protein", "protein_names_refseq": "connexin-43; gap junction 43 kDa heart protein; gap junction alpha-1 protein; gap junction protein, alpha 1, 43kDa", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); erythrokeratodermia variabilis (Disease Ontology:DOID:0050467); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); atrial fibrillation (Disease Ontology:DOID:0060224); oculodentodigital dysplasia (Disease Ontology:DOID:0060291); overactive bladder syndrome (Disease Ontology:DOID:0070355); erythrokeratodermia variabilis et progressiva 3 (Disease Ontology:DOID:0080249); autosomal recessive craniometaphyseal dysplasia (Disease Ontology:DOID:0080802); Parkinsonism (Disease Ontology:DOID:0080855); palmoplantar keratoderma and congenital alopecia 1 (Disease Ontology:DOID:0111244); syndactyly type 3 (Disease Ontology:DOID:0111817); hypertension (Disease Ontology:DOID:10763); amnestic disorder (Disease Ontology:DOID:10914); urethral obstruction (Disease Ontology:DOID:12577); Huntington's disease (Disease Ontology:DOID:12858); dilated cardiomyopathy (Disease Ontology:DOID:12930); renovascular hypertension (Disease Ontology:DOID:1591); impotence (Disease Ontology:DOID:1875); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); high grade glioma (Disease Ontology:DOID:3070); ischemia (Disease Ontology:DOID:326); palmoplantar keratosis (Disease Ontology:DOID:3390); Hallermann-Streiff syndrome (Disease Ontology:DOID:4534); borna disease (Disease Ontology:DOID:5154); myocardial infarction (Disease Ontology:DOID:5844); tetralogy of Fallot (Disease Ontology:DOID:6419); pulmonary hypertension (Disease Ontology:DOID:6432); autoimmune thyroiditis (Disease Ontology:DOID:7188); myocarditis (Disease Ontology:DOID:820); type 2 diabetes mellitus (Disease Ontology:DOID:9352); hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:2697); (R-HSA-190704); (R-HSA-190827); (R-HSA-190840); (R-HSA-190861); (R-HSA-190873); (R-HSA-191650); (R-HSA-196025); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9705677); (R-HSA-9856532)", "pathway_count": 12, "publication_count": 214, "publication_id_list": "10191254;10490598;10581143;10646523;10764404;10871288;10967094;11035005;11124251;11185749;11470490;11514593;11741837;12064600;12149451;12242347;12270943;12349910;12417300;12456725;12457340;12483281;12506110;12601045;12637502;12697837;12773384;12907686;14681032;14702389;14729836;14973142;14974090;15108203;15181016;15213231;15304325;15304341;15459208;15534005;15536180;15546864;15605363;15637728;15642736;15710388;15757815;15958277;15978203;16112082;16219735;16222672;16378922;1646158;16474210;16709485;16709897;16718370;16813608;16816024;16882687;16916748;1696265;17108328;17200141;17210245;17214551;17483156;17509830;17551925;17555745;18083107;18161618;18163231;1850831;18578522;18649180;18662195;18665255;18930794;19258009;19258391;19338053;19454861;19664994;19713215;19879542;19901323;20074329;20118409;20338032;20345849;20861307;21273554;21406692;21454492;21532342;21630325;21670345;22028470;22135478;22411987;22608771;22706990;22960107;22971344;23029280;23060544;23112846;23255595;23363606;23479567;23550541;23695678;23882217;23951358;23978459;24077100;24213533;24297911;24355937;24399133;24500718;24508467;24508941;24563481;24612377;24742583;24815185;25168385;25225338;25398053;25576301;25584940;25678704;25868858;25952184;26033246;26063728;26161412;26285688;26299518;26375851;26604139;27481945;27797339;28176351;28258662;28518143;28559397;28855257;28910394;29223529;29259079;29557506;29587860;29769354;30095367;30104974;30356673;30621602;31154438;31266855;31844290;31848261;31871319;31992625;32302585;32822073;32891874;32897882;32938616;32956670;33080786;33097557;33141586;33255329;33384302;33592498;33864728;33912179;33968037;33981976;34106957;34117354;34171305;35051231;35580925;35742818;35949588;36010968;36241641;37217939;38375917;38984993;39126115;39299505;39390589;39459427;40010341;7715640;7721814;7929580;8631994;8873667;9038151;9155619;9184217;9430691;9443444;9472011;9535905;9535909;9857026", "class_list": "", "function": "Connexin 43 Modulation in Human Chondrocytes, Osteoblasts and Cartilage Explants: Implications for Inflammatory Joint Disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Connexin 43 controls metastatic behavior in triple negative breast cancer through TGFbeta1-Smad3-intergin alphaV signaling axis Based on optical image diagnosis., [RefSeq, PubMed]; Connexin 43 regulates intercellular mitochondrial transfer from human mesenchymal stromal cells to chondrocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Endothelial-adipocyte Cx43 Mediated Gap Junctions Can Regulate Adiposity., [RefSeq, PubMed]; Mutations of the Cx43 Gene in Non-Small Cell Lung Cancer: Association with Aberrant Localization of Cx43 Protein Expression and Tumor Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Structural component of the gap junction, a specialized intercellular structure consisting of a cluster of closely packed pairs of transmembrane channels, the connexons, that allow passage of small molecules and electrical signals between neighboring cells (By similarity). Forms homotypic and heterotypic channels gated by transjunctional voltage (By similarity). May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph (Probable). Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in the conductive system of ventricular myocardium and heart morphogenesis (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization (By similarity). Involved in intercellular innate immune signaling (PubMed:24077100, PubMed:31992625, PubMed:40010341). Mediates translocation of 2',3'-cGAMP and 2',5'-oligoadenylates (2-5A) second messengers from virus-infected cells to macrophages and uninfected neighboring cells to propagate and amplify the antiviral immune response (PubMed:24077100, PubMed:31992625, PubMed:40010341)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 32, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5U9;Q6FHU1;Q9Y5I8", "ec_number_list": [], "go_molecular_function": "GO:0008013 beta-catenin binding;GO:0015562 efflux transmembrane transporter activity;GO:0015631 tubulin binding;GO:0043014 alpha-tubulin binding;GO:0055077 gap junction hemi-channel activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus", "go_biological_process": "GO:2000648 positive regulation of stem cell proliferation;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0007283 spermatogenesis;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "P17302-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31995-1", "uniprot_id": [ { "id": "FCG2C_HUMAN", "url": "https://www.uniprot.org/uniprot/P31995", "type": "external" } ], "mass": 35578.0, "length": 323, "protein_name": "Low affinity immunoglobulin gamma Fc region receptor II-c", "gene_name": "FCGR2C", "organism": "Human", "refseq_name": "low affinity immunoglobulin gamma Fc region receptor II-c precursor", "refseq_ac": [ { "id": "NP_963857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_963857", "type": "external" } ], "gene_names_uniprotkb": "FCGR2C; CD32; FCG2; IGFR2", "gene_names_refseq": "CD32C; CD32; CDW32; FCG2; FCGR2C; FCRIIC; FcgammaRIIc; IGFR2", "protein_names_uniprotkb": "Low affinity immunoglobulin gamma Fc region receptor II-c; CDw32; Fc-gamma RII-c; Fc-gamma-RIIc; FcRII-c; IgG Fc receptor II-c", "protein_names_refseq": "Fc fragment of IgG receptor IIc; Fc fragment of IgG, low affinity IIc, receptor for (CD32); Fc gamma receptor IIC; IgG Fc receptor II-c; fc-gamma-RIIc; immunoglobulin G Fc receptor II-c; low affinity immunoglobulin gamma Fc region receptor II-c precursor", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:9103)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "21081667;23744091;24190977;2531080;26992070;27726376;28605553;28899854;28904123;30563969;32162841;33043033;34357683;34917081;8756631;9516136", "class_list": "", "function": "An HIV Vaccine Protective Allele in FCGR2C Associates With Increased Odds of Perinatal HIV Acquisition. Publication Status: Online-Only, [RefSeq, PubMed]; Gene copy number variation (CNV) of the PKLR, FCGR2A, FCGR2C, and FCGR3 genes is associated with malaria severity, and our results provide evidence for a role of CNV in host responses to malaria., [RefSeq, PubMed]; In a cohort of HIV-1-infected South African controllers (n = 71) and progressors (n = 73), the c.134-96C>T minor allele significantly associated with increased odds of HIV-1 disease progression; these data provide additional evidence towards a role for FCGR2C c.134-96C>T in the context of HIV-1., [RefSeq, PubMed]; Receptor for the Fc region of complexed immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B-cells., [UniProtKB]; The nonclassical open reading frame in the FCGR2C gene (FCGR2C.nc-ORF) was strongly associated with a decreased alloimmunization risk (odds ratio [OR] 0.26, 95% confidence [CI] 0.11-0.64)., [RefSeq, PubMed]; This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. An allelic polymorphism in this gene results in both coding and non-coding variants. [provided by RefSeq, Apr 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": 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": 6, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "O00523;O00524;O00525", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0019864 IgG binding;GO:0019770 IgG receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0050766 positive regulation of phagocytosis;GO:0032760 positive regulation of tumor necrosis factor production;GO:0001788 antibody-dependent cellular cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P31995-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01740-1", "uniprot_id": [ { "id": "FMO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01740", "type": "external" } ], "mass": 60311.0, "length": 532, "protein_name": "Flavin-containing monooxygenase 1", "gene_name": "FMO1", "organism": "Human", "refseq_name": "flavin-containing monooxygenase 1 isoform a", "refseq_ac": [ { "id": "NP_001269621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269621", "type": "external" } ], "gene_names_uniprotkb": "FMO1", "gene_names_refseq": "FMO1", "protein_names_uniprotkb": "Flavin-containing monooxygenase 1; 1.14.13.148; 1.14.13.8; Dimethylaniline monooxygenase [N-oxide-forming] 1; Dimethylaniline oxidase 1; FMO 1; Fetal hepatic flavin-containing monooxygenase 1; Trimethylamine monooxygenase", "protein_names_refseq": "FMO 1; Flavin-containing monooxygenase 1 (fetal liver); dimethylaniline monooxygenase [N-oxide-forming] 1; dimethylaniline oxidase 1; fetal hepatic flavin-containing monooxygenase 1; flavin containing monooxygenase 1; flavin-containing monooxygenase 1 isoform a; trimethylamine monooxygenase", "tax_id": 9606, "disease": "chromosome 1q21.1 deletion syndrome (Disease Ontology:DOID:0060411)", "pathway": " (hsa:2326); (R-HSA-1614558); (R-HSA-217271)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10212249;11237011;11744609;12527699;12871026;15987777;16195549;1712018;17135237;17581819;18872649;19261609;19625201;22718265;23038267;23413359;23563705;236774;23698001;26327310;26437775;27484215;28412453;28832583;29055825;29080679;29372909;29557506;29786170;30381441;30429286;31154438;31848261;32156684;32938616;34509493;4195988;5048998;9070219;9536088;9537447", "class_list": "", "function": "Broad spectrum monooxygenase that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including xenobiotics (PubMed:32156684). Catalyzes the S-oxygenation of hypotaurine to produce taurine, an organic osmolyte involved in cell volume regulation as well as a variety of cytoprotective and developmental processes (PubMed:32156684). In vitro, catalyzes the N-oxygenation of trimethylamine (TMA) to produce trimethylamine N-oxide (TMAO) and could therefore participate to the detoxification of this compound that is generated by the action of gut microbiota from dietary precursors such as choline, choline containing compounds, betaine or L-carnitine (By similarity)., [UniProtKB, PubMed, UniProtKB]; Decreases in N'-oxidation activity (V (max)/K (m)) were observed for the FMO1(I303V), FMO3(N61S), FMO3(D132H), FMO3(V257M), and FMO3(E308G) variants in vitro when compared with their respective wild-type isoforms., [RefSeq, PubMed]; Differential gene expression by SFRP2(+), FMO1(+), and COL11A1(+) fibroblasts suggests roles in matrix deposition, inflammatory cell retention, and connective tissue cell differentiation, respectively. Erratum:[J Invest Dermatol. 2018 Sep;138(9):2086. doi: 10.1016/j.jid.2018.07.003. PMID: 30143084], [RefSeq, PubMed]; Human flavin-containing monooxygenase 1 and its long-sought hydroperoxyflavin intermediate., [RefSeq, PubMed]; Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K248;B7Z3P4;Q5QPT2;Q9UJC2", "ec_number_list": [ { "id": "1.14.13.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.8", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.14.13.148", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.148", "type": "external" }, { "id": "1.14.13.32", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.32", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.6.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.1", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0034899 trimethylamine monooxygenase activity;GO:0050661 NADP binding;GO:0004497 monooxygenase activity;GO:0004499 N,N-dimethylaniline monooxygenase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0032496 response to lipopolysaccharide;GO:0009404 toxin metabolic process;GO:0000098 sulfur amino acid catabolic process;GO:0042412 taurine biosynthetic process;GO:0006082 organic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q01740-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVP5-1", "uniprot_id": [ { "id": "FUND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVP5", "type": "external" } ], "mass": 17178.0, "length": 155, "protein_name": "FUN14 domain-containing protein 1", "gene_name": "FUNDC1", "organism": "Human", "refseq_name": "FUN14 domain-containing protein 1", "refseq_ac": [ { "id": "NP_776155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776155", "type": "external" } ], "gene_names_uniprotkb": "FUNDC1", "gene_names_refseq": "FUNDC1", "protein_names_uniprotkb": "FUN14 domain-containing protein 1", "protein_names_refseq": "FUN14 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:139341); (R-HSA-8934903)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "18452278;18669648;19651622;19690332;20712405;22267086;24671035;24700572;24714562;24746696;25505266;25576301;25645385;26992070;27145933;27600516;27653272;27757847;27846572;28063628;28834231;29242379;29393594;29632046;29786170;30315122;30429286;31154438;31848261;31998317;32157095;32350084;32938616;32983136;33298915;33592498;33912179;33968037;33972548;33978709;34171305;35051231;35580925;36241641;36425056;36828120;37691112;37951930;38411432;38584135", "class_list": "", "function": "Integral mitochondrial outer-membrane protein that mediates the formation of mitochondria-associated endoplasmic reticulum membranes (MAMs) (PubMed:33972548). In turn, mediates angiogenesis and neoangiogenesis through interference with intracellular Ca(2+) communication and regulation of the vascular endothelial growth factor receptor KDR/VEGFR2 expression at both mRNA and protein levels (PubMed:33972548). Also acts as an activator of hypoxia-induced mitophagy, an important mechanism for mitochondrial quality and homeostasis, by interacting with and recruiting LC3 protein family to mitochondria (PubMed:22267086, PubMed:24671035, PubMed:24746696, PubMed:27653272). Mechanistically, recruits DRP1 at ER-mitochondria contact sites leading to DRP1 oligomerization and GTPase activity to facilitate mitochondrial fission during hypoxia (PubMed:27145933, PubMed:33978709). Additionally, plays a role in hepatic ferroptosis by interacting directly with glutathione peroxidase/GPX4 to facilitate its recruitment into mitochondria through TOM/TIM complex where it is degraded by mitophagy (PubMed:36828120)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Integration of FUNDC1-associated mitochondrial protein import and mitochondrial quality control contributes to TDP-43 degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Mitophagy mediated by HIF-1alpha/FUNDC1 signaling in tubular cells protects against renal ischemia/reperfusion injury., [RefSeq, PubMed]; Neutrophil extracellular traps aggravate intestinal epithelial necroptosis in ischaemia-reperfusion by regulating TLR4/RIPK3/FUNDC1-required mitophagy., [RefSeq, PubMed]; This gene encodes a protein with a FUN14 superfamily domain. The function of the encoded protein is not known. [provided by RefSeq, Sep 2011]., [RefSeq]; [FUNDC1 promotes the formation of MAMs involved in angiogenesis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0001666 response to hypoxia;GO:0008053 mitochondrial fusion;GO:0000422 autophagy of mitochondrion;GO:0000423 mitophagy", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8IVP5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TAL8-1", "uniprot_id": [ { "id": "QRIC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TAL8", "type": "external" } ], "mass": 86436.0, "length": 776, "protein_name": "Transcriptional regulator QRICH1", "gene_name": "QRICH1", "organism": "Human", "refseq_name": "transcriptional regulator QRICH1", "refseq_ac": [ { "id": "NP_001307509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307509", "type": "external" } ], "gene_names_uniprotkb": "QRICH1", "gene_names_refseq": "AB-DIP; QRICH1; VERBRAS1; VERBRAS", "protein_names_uniprotkb": "Transcriptional regulator QRICH1; Glutamine-rich protein 1", "protein_names_refseq": "glutamine-rich protein 1; transcriptional regulator QRICH1", "tax_id": 9606, "disease": "Ververi-Brady syndrome 1 (MONDO:MONDO:0060707)", "pathway": " (hsa:54870)", "pathway_count": 1, "publication_count": 109, "publication_id_list": "11237011;18669648;18691976;18991276;19690332;20068231;22645359;22898188;23301498;23481700;24275569;24715725;25418920;25576301;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28657654;28692176;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30059200;30281152;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33009816;33123756;33141586;33298915;33384352;33392160;33592498;33633747;33691108;33738978;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34725712;34859529;34932366;35051231;35138101;35254053;35513511;35580925;36010968;36215666;36241641;36284347;37211757;37331002;37938771;38665916;39227586;39531497;39534244;40307207;40355839;40608935", "class_list": "", "function": "A case of Ververi-Brady syndrome due to QRICH1 loss of function and the literature review., [RefSeq, PubMed]; Despite their small number, the patients had a relatively consistent pattern of clinical features suggesting the presence of a QRICH1-associated phenotype. LoF mutations in QRICH1 are suggested as a novel cause of developmental delay., [RefSeq, PubMed]; QRICH1 dictates the outcome of ER stress through transcriptional control of proteostasis., [RefSeq, PubMed]; QRICH1 suppresses pediatric T-cell acute lymphoblastic leukemia by inhibiting GRP78. Publication Status: Online-Only, [RefSeq, PubMed]; QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum., [RefSeq, PubMed]; Transcriptional regulator that acts as a mediator of the integrated stress response (ISR) through transcriptional control of protein homeostasis under conditions of ER stress (PubMed:33384352, PubMed:40355839). Controls the outcome of the unfolded protein response (UPR) which is an ER-stress response pathway (PubMed:33384352). ER stress induces QRICH1 translation by a ribosome translation re-initiation mechanism in response to EIF2S1/eIF-2-alpha phosphorylation, and stress-induced QRICH1 regulates a transcriptional program associated with protein translation, protein secretion-mediated proteotoxicity and cell death during the terminal UPR (PubMed:33384352). May cooperate with ATF4 transcription factor signaling to regulate ER homeostasis which is critical for cell viability (PubMed:33384352). Up-regulates CASP3/caspase-3 activity in epithelial cells under ER stress. Central regulator of proteotoxicity associated with ER stress-mediated inflammatory diseases in the intestines and liver (PubMed:33384352). Core component of the zincore complex, a heterotetramer that acts as a molecular 'grip' to stabilize transcription factors at DNA-binding sites across the genome, thereby controlling gene expression (PubMed:40608935). The zincore complex binds specifically to zinc finger transcription factors, such as ZFP91, ZNF652, ZNF526 and PRDM15, and stabilizes them onto their cognate DNA motif (PubMed:40608935). Involved in chondrocyte hypertrophy, a process required for normal longitudinal bone growth (PubMed:30281152)., [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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q4G0F7;Q7L621;Q8TEA5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0043065 positive regulation of apoptotic process;GO:0045893 positive regulation of DNA-templated transcription;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q2TAL8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZD2-1", "uniprot_id": [ { "id": "S29A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZD2", "type": "external" } ], "mass": 51815.0, "length": 475, "protein_name": "Equilibrative nucleoside transporter 3", "gene_name": "SLC29A3", "organism": "Human", "refseq_name": "equilibrative nucleoside transporter 3 isoform b", "refseq_ac": [ { "id": "NP_001167569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167569", "type": "external" } ], "gene_names_uniprotkb": "SLC29A3; ENT3; PRO1380", "gene_names_refseq": "ENT3; HCLAP; HJCD; PHID; SLC29A3", "protein_names_uniprotkb": "Equilibrative nucleoside transporter 3; Solute carrier family 29 member 3; hENT3", "protein_names_refseq": "equilibrative nucleoside transporter 3 isoform b; solute carrier family 29 (equilibrative nucleoside transporter), member 3; solute carrier family 29 (nucleoside transporters), member 3", "tax_id": 9606, "disease": "histiocytosis-lymphadenopathy plus syndrome (Disease Ontology:DOID:0111278)", "pathway": " (hsa:55315); (R-HSA-5619063); (R-HSA-83936); (R-HSA-9755088)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10455109;11032837;11237011;11396612;11809823;12384580;12499231;12606760;12975309;15448143;15701636;15861032;15917509;16265592;16446384;16873718;17412768;17897319;18635603;18940313;18981177;19164483;19336477;19368893;19889517;20096989;20140240;20173735;20199539;20399510;20486858;20504255;20595384;20619369;21396942;2159925;21888995;22174130;22653152;23186163;24107682;24911211;24957263;2648994;26992070;2737800;280136;28218747;28729424;28904123;29580856;29769354;30045981;30429286;30716294;31520644;31844290;31848261;32350084;32357974;32387766;32983136;33392160;33912179;34171305;34357683;34509645;35051231;36010968;36215666;37738562;38104646;38546281;41476938;5840415;5857365;8626464;8986748;9124315;9435697;9478986;9587671;9605565;9647364", "class_list": "", "function": "Broad selectivity, low affinity nucleoside transporter that can also transport adenine, [RefSeq, PubMed]; Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers. Review article, [RefSeq, PubMed]; Five loss-of-function mutations were identified in the SLC29A3 gene in patients with pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome., [RefSeq, PubMed]; H syndrome is caused by mutations in the nucleoside transporter hENT3, [RefSeq, PubMed]; Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population., [RefSeq, PubMed]; Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling., [RefSeq, PubMed]; This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]., [RefSeq]; Uniporter that mediates the facilitative transport of nucleoside across lysosomal and mitochondrial membranes (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Functions as a non-electrogenic Na(+)-independent transporter (PubMed:15701636, PubMed:19164483, PubMed:28729424). Transport activity is pH-dependent and enhanced under acidic conditions, consistent with localization to acidic intracellular compartments (PubMed:15701636, PubMed:19164483, PubMed:28729424). Protons are not cotransported but likely modulate transport by altering the ionization state of the transporter which dictates its conformation, thereby regulating substrate permeability (PubMed:28729424). May direct the nucleoside transport from lysosomes to cytosol or cytosol to mitochondria to facilitate nucleic acid salvage pathways (PubMed:28729424). Transports nucleosides (adenosine, guanosine, uridine, thymidine, cytidine and inosine), deoxynucleosides (deoxyadenosine, deoxycytidine), purine nucleobases (adenine, guanine) and pyrimidine nucleobases (uracil) (PubMed:15701636, PubMed:19164483, PubMed:20595384, PubMed:28729424). Also capable of transporting monoamine neurotransmitters dopamine, serotonin, noradrenaline and tyramine, as well as ATP (PubMed:19164483). Mediates nucleoside export from lysosomes in macrophages, thereby regulating macrophage function and number (By similarity). Also functions as a lysosomal urate exporter, contributing to intracellular urate disposal (PubMed:41476938). Regulates inflammasome activation via dual roles in urate and adenosine transport (PubMed:41476938)., [UniProtKB, 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": 2, "reported_mutagensis": 64, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RB50;B4E2Z9;B7ZA37;Q0VAM9;Q5T465;Q7RTT8;Q8IVZ0;Q9BWI2;Q9NUS9", "ec_number_list": [], "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015205 nucleobase transmembrane transporter activity;GO:0015212 cytidine transmembrane transporter activity;GO:0015213 uridine transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0015851 nucleobase transport;GO:0015861 cytidine transport;GO:0015858 nucleoside transport;GO:0015862 uridine transmembrane transport;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9BZD2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62877-1", "uniprot_id": [ { "id": "RBX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P62877", "type": "external" } ], "mass": 12274.0, "length": 108, "protein_name": "E3 ubiquitin-protein ligase RBX1", "gene_name": "RBX1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RBX1", "refseq_ac": [ { "id": "NP_055063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055063", "type": "external" } ], "gene_names_uniprotkb": "RBX1; RNF75; ROC1", "gene_names_refseq": "BA554C12.1; RBX1; RNF75; ROC1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RBX1; 2.3.2.27; 2.3.2.32; E3 ubiquitin-protein transferase RBX1, N-terminally processed; E3 ubiquitin-protein transferase RBX1; Protein ZYP; RING finger protein 75; RING-box protein 1; ROC1; Rbx1; Regulator of cullins 1", "protein_names_refseq": "E3 ubiquitin-protein ligase RBX1; E3 ubiquitin-protein transferase RBX1; RING finger protein 75; RING-box protein 1; ZYP protein; regulator of cullins 1; ring-box 1, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:9978); (R-HSA-110314); (R-HSA-1170546); (R-HSA-1234176); (R-HSA-180585); (R-HSA-195253); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2644607); (R-HSA-2894862); (R-HSA-4641258); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5696394); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-68949); (R-HSA-69601); (R-HSA-8854050); (R-HSA-8939902); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9679191); (R-HSA-9708530); (R-HSA-9725371); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-983168); (R-HSA-9833109); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9932298); (R-HSA-9954709)", "pathway_count": 42, "publication_count": 711, "publication_id_list": "10023660;10075690;10087012;10092233;10196136;10206645;10213691;10215629;10230406;10230407;10391953;10421629;10433824;10514433;10526214;10535940;10564661;10572046;10579999;10581160;10597293;10643962;10693759;10702308;10713164;10734143;10811609;10823831;10827953;10854325;10878807;10879540;10882063;10882101;10911365;10918611;10944113;10944529;10964718;10966113;10973499;11006133;11007478;11024059;11027288;11027307;11044625;11062501;11069780;11094434;11141066;11169414;11259415;11278856;11279143;11292861;11292862;11298456;11337588;11350924;11358837;11384984;11454738;11461910;11493923;11504942;11511374;11585840;11585921;11598268;11733065;11739726;11740940;11751994;11904382;11931757;11960000;11960013;11961546;11970895;12000792;12050117;12050670;12068298;12080057;12101228;12123571;12138125;12149480;12186903;12198130;12208738;12209127;12226657;12234927;12351678;12354787;12391150;12399544;12426310;12481031;12496252;12504025;12504026;12526791;12530964;12538644;12538665;12553912;12554650;12600938;12609982;12615973;12646216;12646235;12660172;12676583;12676925;12682069;12700136;12732143;12738770;12748172;12759351;12759363;12787671;12788921;12791687;12815074;12816948;12820959;12821933;12860405;12912907;12923053;12944386;12963847;14517266;14517290;14528300;14528312;14564014;14585973;14603323;14611647;14625308;14681206;14684739;14688281;14690597;14734113;14739464;14742321;14757770;14764894;14980219;15082796;15107403;15115751;15198976;15220921;15224091;15224092;15247232;15282312;15300262;15327769;15361859;15367669;15474027;15537541;15546612;15571818;15572695;15574592;15574878;15590680;15601839;15652483;15652751;15683364;15688063;15694336;1570011;15703179;15735151;15760269;15767667;15781449;15799966;15811629;15824097;15829515;15855052;15882621;15916957;15917222;15917247;15964821;15983046;15987702;16009132;16030353;16061793;16093323;16115318;16115867;16125763;16127453;16136078;16155214;16171779;16223728;16246722;16256737;16286508;16359182;16371461;16401342;16421188;16421275;16446366;16459297;16459298;16473935;16478641;16491090;16522641;16530044;16531995;16546209;16547496;16547521;16551619;16595681;16611981;16647857;16651542;16678110;16705181;16707496;16728642;16738327;16738328;16740475;16751180;16753179;16790436;16840534;16849449;16943200;16954532;16962933;16980583;17000769;17003037;17081101;17110082;17111047;17114293;17115028;17132228;17135271;17141195;17182618;17183061;17183367;17204608;17220875;17251292;17283082;17290000;17318175;17332328;17392790;17401372;17416736;17434750;17442700;17466625;17466626;17497243;17507369;17510365;17512459;17641202;17646408;17646409;17662961;17675297;17690253;17720710;17785452;17786208;17882165;17890055;17922009;17948053;17979524;17981804;17997719;18024471;18043734;18070982;18077452;18079701;18093314;18094723;18097461;18167338;18180283;18184961;18206966;18238777;18273910;1828071;18281465;18296446;1833184;18337469;18342608;18374649;18397884;18438411;18455992;18480045;18497258;18541707;18614043;18632848;18662542;18691976;18775313;18776931;18805092;18809579;18824583;18824585;18826954;18827223;18832070;18851830;18926707;19028597;19056373;19056823;19061640;19109893;19112177;19151708;19193793;19208626;19250909;19264966;19279666;19305393;19321346;19352404;19368795;19371734;19413330;19452197;19489725;19524514;19533801;19549984;19573811;19592253;19609301;19617556;19622347;19661379;19666503;19679664;19684112;19706539;19713942;19726682;19734889;19748355;19818708;19851334;19852954;19874575;19878745;19897490;19903815;19920177;19940136;19940261;19941824;19955409;19996169;20014402;20015877;20016067;20053995;20068231;20129063;20154143;20223979;20227366;20227374;20348946;20360384;20368362;20378532;20452972;20460306;20487519;20493732;20495340;20512148;20541997;20596027;20643644;20818436;20844016;20855601;20876134;20889716;20956384;20972443;21070792;21135142;2121370;21220506;21245377;21252624;21282463;21335549;21388382;21391649;2139180;21447816;21463634;2147937;21632562;21695114;21715655;21734707;21778237;21801010;21863050;21878643;21921029;21931630;21940857;22007132;22081108;22101459;22118460;22142471;22223895;22286099;22306028;22306998;22383950;22391301;22401777;22422618;22466610;22466611;22466612;22466964;22537386;22552008;2261476;22649370;22748924;22751498;22751928;22761442;22789539;22802525;22814904;22872865;22902626;22955283;22959436;22964642;22982193;23000965;23038248;23045548;23186163;23201271;23217742;23256519;23274085;23319653;23332756;23333871;23352696;23401859;23403054;23443682;23452856;23453757;23455478;23535662;23535663;23563313;23579495;23583660;23641311;23661552;23685075;23719536;23725801;23746841;23751493;23906714;23912815;23943595;23955340;23973375;23986495;24011591;24035498;24060861;24072710;24076655;24127601;24192928;24272870;24298019;24302888;24366543;24402227;24582806;24584101;24636985;24715725;24768535;24793695;24793696;24814062;24845016;24854174;24925320;25040165;25132172;25154395;25242263;25260729;25314029;25349211;25355947;25435140;25531226;25538220;25578875;25654763;25684205;25740432;25793262;25801024;25818168;25921531;26002965;26042670;26091038;26117325;26151477;26344709;26460955;26583321;26632597;26778333;26811146;26906416;26942676;27030794;27222660;27466718;27553022;27565346;27572267;27846572;27920218;28115426;28218747;28380357;28425720;28510447;28832583;28834231;29149593;29153394;29233872;29242379;29393594;29437277;29450944;2946959;29493099;29526543;29588546;29632046;29632312;29717933;29769719;29786170;29945920;30201761;30244831;30315122;30379171;30410026;30558248;30610225;30692217;30728908;30779550;31011209;31048504;31366041;31390744;31434245;31546975;31844290;32005965;32284348;32293500;32355176;32502341;32640524;32672401;32897882;33009401;33406423;33417871;33444648;33791708;33859744;33909987;33936100;33968037;33981976;34019948;34171305;34315872;34526721;34700328;35051231;35385574;35561310;35687106;35982156;36198437;37676773;37844242;38225631;38316879;38326650;38605244;38665916;39504960;39667934;7559382;7566092;7588063;7628694;7700386;8001118;8078911;8168482;8327496;8332913;8563751;8599092;8649374;8687460;8692841;8837778;8876179;9122164;9130708;9219684;9230313;9244301;9302992;9315665;9326587;9346484;9371760;9380723;9430229;9462510;9482734;9544839;9601642;9604939;9620803;9651681;9668046;9694793;9699634;9716411;9771713;9790970;9819428;9859996;9874371;9875289;9887101;9891082;9930702;9990852;9990853", "class_list": "", "function": "E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair (PubMed:10230407, PubMed:10579999, PubMed:11961546, PubMed:15983046, PubMed:16678110, PubMed:19112177, PubMed:19679664, PubMed:22748924, PubMed:23455478, PubMed:27565346, PubMed:29769719, PubMed:32355176, PubMed:33417871, PubMed:37844242, PubMed:38326650, PubMed:39504960, PubMed:39667934, PubMed:38316879). CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (PubMed:27565346). The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components. As a component of the CSA complex mediates ubiquitination of Pol II subunit POLR2A at 'Lys-1268', a critical TC-NER checkpoint (PubMed:32355176, PubMed:34526721). Core component of the Cul7-RING(FBXW8) ubiquitin ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:35982156). Core component of a Cul9-RING ubiquitin ligase complex composed of CUL9 and RBX1, which mediates mono-ubiquitination of p53/TP53 (PubMed:38605244). Recruits the E2 ubiquitin-conjugating enzyme CDC34 to the complex and brings it into close proximity to the substrate. Probably also stimulates CDC34 autoubiquitination. May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair. Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M. Involved in the ubiquitination of KEAP1, ENC1 and KLHL41. In concert with ATF2 and CUL3, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM. As part of a multisubunit complex composed of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5; polyubiquitinates monoubiquitinated POLR2A (PubMed:19920177)., [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]; This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RDY1;Q8N6Z8;Q9D1S2;Q9WUK9;Q9Y254", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.11.29", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.29", "type": "external" }, { "id": "3.4.14.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.4", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0008270 zinc ion binding;GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0030891 VCB complex;GO:0031467 Cul7-RING ubiquitin ligase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:1901525 negative regulation of mitophagy;GO:1904263 positive regulation of TORC1 signaling;GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0046627 negative regulation of insulin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 71.4, "record_id": "P62877-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99592-1", "uniprot_id": [ { "id": "ZBT18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99592", "type": "external" } ], "mass": 58354.0, "length": 522, "protein_name": "Zinc finger and BTB domain-containing protein 18", "gene_name": "ZBTB18", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 18 isoform 2", "refseq_ac": [ { "id": "NP_001265125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265125", "type": "external" } ], "gene_names_uniprotkb": "ZBTB18; RP58; TAZ1; ZNF238", "gene_names_refseq": "C1DELq42q44; C1DELq43q44; C2H2-171; DEL1Q42Q44; DEL1Q43Q44; MRD22; RP58; TAZ-1; ZBTB18; ZNF238", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 18; 58 kDa repressor protein; TAZ-1; Transcriptional repressor RP58; Translin-associated zinc finger protein 1; Zinc finger protein 238; Zinc finger protein C2H2-171", "protein_names_refseq": "58 kDa repressor protein; transcriptional repressor RP58; translin-associated zinc finger protein 1; zinc finger and BTB domain-containing protein 18 isoform 2; zinc finger and BTB domain-containing protein 18; zinc finger protein 238; zinc finger protein C2H2-171", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder (Disease Ontology:DOID:0060307); autosomal dominant intellectual developmental disorder 22 (Disease Ontology:DOID:0070052)", "pathway": " (hsa:10472)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10721697;11237011;11350943;17525332;23481700;24193349;24715725;25576301;26740508;28218747;28228285;28832583;29242379;29437277;29557506;29632711;29786170;30315122;30429286;31092671;31154438;31222486;31530632;31844290;32938616;32983136;33298915;33912179;33968037;35051231;36284347;36414381;37525067;38056433;7633419;8358434;9756912", "class_list": "", "function": "A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability., [RefSeq, PubMed]; Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders., [RefSeq, PubMed]; This gene encodes a C2H2-type zinc finger protein which acts a transcriptional repressor of genes involved in neuronal development. The encoded protein recognizes a specific sequence motif and recruits components of chromatin to target genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]; Transcriptional repressor that plays a role in various developmental processes such as myogenesis and brain development. Plays a key role in myogenesis by directly repressing the expression of ID2 and ID3, 2 inhibitors of skeletal myogenesis. Also involved in controlling cell division of progenitor cells and regulating the survival of postmitotic cortical neurons. Specifically binds the consensus DNA sequence 5'-[AC]ACATCTG[GT][AC]-3' which contains the E box core, and acts by recruiting chromatin remodeling multiprotein complexes. May also play a role in the organization of chromosomes in the nucleus., [UniProtKB, PubMed]; ZBTB18 inhibits SREBP-dependent lipid synthesis by halting CTBPs and LSD1 activity in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K5U3;Q13397;Q5VU40;Q8N463;Q9UD99", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO: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:0000792 heterochromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q99592-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41240-1", "uniprot_id": [ { "id": "CSK_HUMAN", "url": "https://www.uniprot.org/uniprot/P41240", "type": "external" } ], "mass": 50704.0, "length": 450, "protein_name": "Tyrosine-protein kinase CSK", "gene_name": "CSK", "organism": "Human", "refseq_name": "tyrosine-protein kinase CSK isoform 1", "refseq_ac": [ { "id": "NP_001120662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120662", "type": "external" } ], "gene_names_uniprotkb": "CSK", "gene_names_refseq": "CSK", "protein_names_uniprotkb": "Tyrosine-protein kinase CSK; 2.7.10.4; C-Src kinase; Protein-tyrosine kinase CYL", "protein_names_refseq": "C-Src kinase; CSK, non-receptor tyrosine kinase; c-src tyrosine kinase; protein-tyrosine kinase CYL; tyrosine-protein kinase CSK isoform 1; tyrosine-protein kinase CSK", "tax_id": 9606, "disease": "pancreatitis (Disease Ontology:DOID:4989); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:1445); (R-HSA-180292); (R-HSA-202427); (R-HSA-354192); (R-HSA-389948); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9013407); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9706369)", "pathway_count": 14, "publication_count": 291, "publication_id_list": "10209122;10409742;10446041;10648629;10725339;10734310;10790433;10838081;10891492;10896934;10913131;10964917;11181701;11237011;11323411;11325826;11368848;11433379;11476890;11606067;11802164;11802165;11809807;11827988;11940607;12024036;12068308;12473660;12479806;12600271;12766170;12832465;12893276;12938237;12947224;1371489;14560030;14610046;14636584;14665621;14701753;14754902;14967142;14970219;15035987;15084594;15118098;15157149;15208781;15231819;15239952;15260967;15334074;15358536;15469846;15489910;15489916;15520807;15543157;15547943;15574420;15630448;16005629;16040750;16076873;16115959;16135787;16243715;16364187;16364920;1639064;16461343;16508002;16684964;16702958;16757337;16879721;16919435;17018604;17028588;17064668;17110436;17145850;17178906;1720539;17218263;1722201;17344846;17446348;17496912;17525734;17563371;17603482;17603483;17624957;18173375;18192505;18287029;18434644;18559533;18562239;18759926;18974108;18991276;19091303;19219045;19242111;19276253;19279408;1945408;19467855;19888460;19933846;20052757;20130576;20141835;20179705;20184954;20346773;20526349;20818844;20826718;20851766;20858867;21072051;21107323;21145940;21154117;21262971;21424530;21514245;21543337;21639808;21779496;21784453;21930792;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22426112;22438257;22510884;22569528;22589270;22745804;22826437;22942183;22952242;23042117;23171796;23288408;23300935;23301498;23302904;23352452;23378895;23453624;23526378;23548639;23580664;23583981;23614898;23667175;23680146;23707526;23875798;23923048;23934108;24121058;24135138;24202393;24345920;24648518;24651010;24705897;24714562;24746704;24937142;24957944;25195011;25204415;2530588;25313996;25435214;25907612;26154972;26214590;26308771;26811146;26918609;26992070;27227380;27457684;27458164;27666490;27846572;27862975;27920218;28063628;28086240;28098256;28165004;28218747;28265006;28514659;28522807;28611190;28832583;28834231;28904123;28939558;29242379;29393594;29437277;29467321;29493099;29508533;29510700;29557506;29632711;29786170;29863979;29880609;30034615;30315122;30410026;30429286;30522017;30794926;30833945;31066629;31125786;31154438;31217245;31313098;31530632;31844290;31848261;31871319;32350084;32357974;32502341;3287375;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33887528;33912179;33968037;34019948;34229054;34561969;34932366;35051231;35138101;35154160;35393453;35580925;36241641;36284347;38665916;40914422;7511113;7513017;7565670;7565795;7683130;7683131;7731720;7929275;7935411;8051079;8157000;8631894;8755247;9020159;9148770;9281320;9351824;9356464;9733512;9858547;9890893", "class_list": "", "function": "Data indicate that the accumulation of the cleaved C-terminal small fragment of eukaryotic elongation factor 2 (eEF2) in the nucleus, and C-terminal Src kinase (Csk) could enhance the proteolytic cleavage of eEF2., [RefSeq, PubMed]; Molecular mapping of platelet hyperreactivity in diabetes: the stress proteins complex HSPA8/Hsp90/CSK2alpha and platelet aggregation in diabetic and normal platelets., [RefSeq, PubMed]; Non-receptor tyrosine-protein kinase that plays an important role in the regulation of cell growth, differentiation, migration and immune response. Phosphorylates tyrosine residues located in the C-terminal tails of Src-family kinases (SFKs) including LCK, SRC, HCK, FYN, LYN, CSK or YES1. Upon tail phosphorylation, Src-family members engage in intramolecular interactions between the phosphotyrosine tail and the SH2 domain that result in an inactive conformation. To inhibit SFKs, CSK is recruited to the plasma membrane via binding to transmembrane proteins or adapter proteins located near the plasma membrane. Suppresses signaling by various surface receptors, including T-cell receptor (TCR) and B-cell receptor (BCR) by phosphorylating and maintaining inactive several positive effectors such as FYN or LCK. May act as a negative regulator of EGFR and STAT3 signaling pathways (PubMed:26918609)., [UniProtKB, PubMed, PubMed, PubMed]; SH3-domain mutations selectively disrupt Csk homodimerization or PTPN22 binding. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is involved in multiple pathways, including the regulation of Src family kinases. It plays an important role in T-cell activation through its association with the protein encoded by the protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene. This protein also phosphorylates C-terminal tyrosine residues on multiple substrates, including the protein encoded by the SRC proto-oncogene, non-receptor tyrosine kinase gene. Phosphorylation suppresses the kinase activity of the Src family tyrosine kinases. An intronic polymorphism (rs34933034) in this gene has been found to affect B-cell activation and is associated with systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]., [RefSeq]; This suggests that the Lyp-Csk complex increases susceptibility to lupus at multiple maturation and activation points in B cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 3, "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": "Q2M3N2;Q6FGZ6", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" } ], "go_molecular_function": "GO:0034236 protein kinase A catalytic subunit binding;GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0070062 extracellular exosome", "go_biological_process": "GO:0060368 regulation of Fc receptor mediated stimulatory signaling pathway;GO:0006468 protein phosphorylation;GO:0008285 negative regulation of cell population proliferation;GO:0035556 intracellular signal transduction;GO:0031295 T cell costimulation", "synthesized_glycan_count": 0, "hit_score": 29.4, "record_id": "P41240-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63241-1", "uniprot_id": [ { "id": "IF5A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63241", "type": "external" } ], "mass": 16832.0, "length": 154, "protein_name": "Eukaryotic translation initiation factor 5A-1", "gene_name": "EIF5A", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 5A-1 isoform A", "refseq_ac": [ { "id": "NP_001137232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137232", "type": "external" } ], "gene_names_uniprotkb": "EIF5A", "gene_names_refseq": "EIF-5A; EIF5A1; EIF5A; FABAS; eIF-4D; eIF5AI", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 5A-1; Eukaryotic initiation factor 5A isoform 1; Rev-binding factor; eIF-4D; eIF-5A-1; eIF-5A1; eIF-5A", "protein_names_refseq": "eukaryotic initiation factor 5A; eukaryotic translation initiation factor 5A-1 isoform A; eukaryotic translation initiation factor 5A-1; rev-binding factor", "tax_id": 9606, "disease": "pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); pulmonary hypertension (Disease Ontology:DOID:6432); colorectal cancer (Disease Ontology:DOID:9256); Faundes-Banka syndrome (MONDO:MONDO:0859163)", "pathway": " (hsa:1984); (R-HSA-204626)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10229683;10944119;11237011;11742107;12788913;1286667;14622290;15262146;15303967;15371445;15452064;16408927;16452303;16519677;16533814;16987817;17187778;17213197;17360499;18067580;18491316;19280598;19379712;19413330;20068231;22771473;22869377;23301498;24366607;24714562;24715725;2492279;25502872;25576301;25645385;26154972;26375851;26758079;26992070;27115996;27306458;27397612;27600516;27846572;27862975;27920218;28904123;29242379;29314611;29351928;29493099;29508533;29557506;29712776;30192525;30429286;30779550;30833945;3095320;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32119511;32157095;32265295;32350084;32387766;32488085;32502341;32938616;32983136;33091337;33547280;33592498;33912179;33968037;34019948;34078123;34087483;34171305;34433824;34509645;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35580925;36215666;36241641;36284347;37653021;37743008;37938771;38654332;38665916;38862693;39303786;40596516;7545941;7622067;7673224;8253832;8660923;9188485", "class_list": "", "function": "(Microbial infection) Cellular cofactor of human T-cell leukemia virus type I (HTLV-1) Rex protein and of human immunodeficiency virus type 1 (HIV-1) Rev protein, essential for mRNA export of retroviral transcripts., [UniProtKB, PubMed]; AMD1 promotes breast cancer aggressiveness via a spermidine-eIF5A hypusination-TCF4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Construction of a nomogram for predicting HNSCC distant metastasis and identification of EIF5A as a hub gene. Publication Status: Online-Only, [RefSeq, PubMed]; Exosomal EIF5A derived from Lewis lung carcinoma induced adipocyte wasting in cancer cachexia., [RefSeq, PubMed]; Insights into eukaryotic translation initiation factor 5A: Its role and mechanisms in protein synthesis. Review article, [RefSeq, PubMed]; Targeted inhibition of eIF5A[hpu] suppresses tumor growth and polarization of M2-like tumor-associated macrophages in oral cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Translation factor that promotes translation elongation and termination, particularly upon ribosome stalling at specific amino acid sequence contexts (PubMed:33547280). Binds between the exit (E) and peptidyl (P) site of the ribosome and promotes rescue of stalled ribosome: specifically required for efficient translation of polyproline-containing peptides as well as other motifs that stall the ribosome (By similarity). Acts as a ribosome quality control (RQC) cofactor by joining the RQC complex to facilitate peptidyl transfer during CAT tailing step (By similarity). Also involved in actin dynamics and cell cycle progression, mRNA decay and probably in a pathway involved in stress response and maintenance of cell wall integrity (PubMed:16987817). With syntenin SDCBP, functions as a regulator of p53/TP53 and p53/TP53-dependent apoptosis (PubMed:15371445). Also regulates TNF-mediated apoptosis (PubMed:15452064, PubMed:17187778). Mediates effects of polyamines on neuronal process extension and survival (PubMed:17360499). Is required for autophagy by assisting the ribosome in translating the ATG3 protein at a specific amino acid sequence, the 'ASP-ASP-Gly' motif, leading to the increase of the efficiency of ATG3 translation and facilitation of LC3B lipidation and autophagosome formation (PubMed:29712776)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 3, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 0, "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": "A8K9A0;D3DTP2;P10159;Q16182;Q7L7L3;Q7Z4L1;Q9D0G2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003746 translation elongation factor activity;GO:0043022 ribosome binding;GO:0017070 U6 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0033209 tumor necrosis factor-mediated signaling pathway;GO:0098586 cellular response to virus;GO:0045901 positive regulation of translational elongation;GO:0006414 translational elongation", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P63241-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08575-3", "uniprot_id": [ { "id": "PTPRC_HUMAN", "url": "https://www.uniprot.org/uniprot/P08575", "type": "external" } ], "mass": 147486.0, "length": 1306, "protein_name": "Receptor-type tyrosine-protein phosphatase C", "gene_name": "PTPRC", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase C isoform 1 precursor", "refseq_ac": [ { "id": "NP_002829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002829", "type": "external" } ], "gene_names_uniprotkb": "PTPRC; CD45", "gene_names_refseq": "B220; CD45R; CD45; GP180; IMD105; L-CA; LCA; LY5; PTPRC; T200", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase C; 3.1.3.48; L-CA; Leukocyte common antigen; T200", "protein_names_refseq": "CD45 antigen; T200 glycoprotein; T200 leukocyte common antigen; glycoprotein 180; protein tyrosine phosphatase, receptor type, c polypeptide; receptor-type tyrosine-protein phosphatase C isoform 1 precursor", "tax_id": 9606, "disease": "severe combined immunodeficiency 105 (Disease Ontology:DOID:0061074); hypertension (Disease Ontology:DOID:10763); multiple sclerosis (Disease Ontology:DOID:2377); severe combined immunodeficiency (Disease Ontology:DOID:627); retinal degeneration (Disease Ontology:DOID:8466); systemic lupus erythematosus (Disease Ontology:DOID:9074); multiple sclerosis, susceptibility to 1 (MONDO:MONDO:0021571)", "pathway": " (hsa:5788); (R-HSA-202427); (R-HSA-416700); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 132, "publication_id_list": "10.1038/emboj.2013.79;10066810;10520995;10648410;10700239;10790433;11101853;11114375;11145714;11827988;11909961;11975983;12676959;12882840;12938237;15084594;15218527;15489910;15489916;15550623;15684325;16364187;16461343;16715077;1695146;16959974;16998493;17318185;19159218;19349973;19367720;19690332;20346773;21543337;22174689;22299025;22426112;22689986;23186163;23481700;23580664;23584533;23650620;23739916;24029068;24190977;24211831;2530588;2531281;25645385;25892735;26375851;26728094;26768311;27452731;27862975;27920218;28228285;2824653;2845400;28649982;28832583;28834231;29242379;29314611;29391424;29393594;29493099;29508533;29557506;2956090;29632046;29632711;29671580;2971730;29741879;29786170;30315122;30429286;30459171;30573663;30582698;31020640;31154438;31217245;31611695;31844290;32157095;32350084;32357974;32387766;32502341;32897882;32983136;33043033;33091337;33123756;33298915;33392160;33592498;33691108;33717175;33912179;33936100;34185709;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35494241;35561310;35580925;35767951;36241641;36284347;37074911;37938771;38411434;38441343;38575583;38880651;39058408;39531497;7507203;8122360;8251489;8692836;8955171;9492296", "class_list": "", "function": "(Microbial infection) Acts as a receptor for human cytomegalovirus protein UL11 and mediates binding of UL11 to T-cells, leading to reduced induction of tyrosine phosphorylation of multiple signaling proteins upon T-cell receptor stimulation and impaired T-cell proliferation., [UniProtKB, PubMed]; Circulating tumor cells shielded with extracellular vesicle-derived CD45 evade T cell attack to enable metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of CD45 in non-hematopoietic cells: implications in regenerative medicine and disease management. Review article, [RefSeq, PubMed]; Implications of CD45RA and CD45RO T cell subsets in patients of chronic rhinosinusitis with nasal polyposis infected with Aspergillus flavus., [RefSeq, PubMed]; Lymphocyte Phosphatase-Associated Phosphoprotein (LPAP) as a CD45 Protein Stability Regulator., [RefSeq, PubMed]; Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor (PubMed:35767951). Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity (By similarity). Interacts with CLEC10A at antigen presenting cell-T cell contact; CLEC10A on immature dendritic cells recognizes Tn antigen-carrying PTPRC/CD45 receptor on effector T cells and modulates T cell activation threshold to limit autoreactivity., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]., [RefSeq]; [CD45 pre-exclusion from the tips of microvilli : role in their activation]., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 5, "predicted_o_glycosites": 2, "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": 24, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 13, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 29, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 29, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 25, "reported_phosphosites": 20, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 86, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 127, "disease_count": 7, "glyco_site_count": 40, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MT22;A8K7W6;Q16614;Q9H0Y6;X6R433", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.4.24.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.11", "type": "external" }, { "id": "3.4.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0043395 heparan sulfate proteoglycan binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0001960 negative regulation of cytokine-mediated signaling pathway;GO:0001779 natural killer cell differentiation;GO:0050857 positive regulation of antigen receptor-mediated signaling pathway;GO:0016311 dephosphorylation;GO:2000648 positive regulation of stem cell proliferation", "synthesized_glycan_count": 0, "hit_score": 29.5, "record_id": "P08575-3", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100100011001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTU4-1", "uniprot_id": [ { "id": "CTSRZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTU4", "type": "external" } ], "mass": 22839.0, "length": 200, "protein_name": "Cation channel sperm-associated auxiliary subunit zeta", "gene_name": "CATSPERZ", "organism": "Human", "refseq_name": "cation channel sperm-associated auxiliary subunit zeta", "refseq_ac": [ { "id": "NP_001034585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034585", "type": "external" } ], "gene_names_uniprotkb": "CATSPERZ; C11orf20; TEX40", "gene_names_refseq": "C11orf20; CATSPERZ; TEX40", "protein_names_uniprotkb": "Cation channel sperm-associated auxiliary subunit zeta; CatSper-zeta; CatSperzeta; Testis-expressed protein 40", "protein_names_refseq": "catSper-zeta; catSperzeta; cation channel sperm-associated auxiliary subunit zeta; cation channel sperm-associated protein subunit zeta; testis expressed 40; testis-expressed protein 40; testis-expressed sequence 40 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25858)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11230166;11237011;19139490;21949640;24504521;25576301;30379171;30550884", "class_list": "", "function": "Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Required for a distribution of the CatSper complex in linear quadrilateral nanodomains along the flagellum, maximizing fertilization inside the mammalian female reproductive tract. Together with EFCAB9, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel., [UniProtKB, UniProtKB]; ESRRA-C11orf20, a gene fusion between ESRRA and C11orf20 (TEX40) is recurrent serous ovarian carcinoma., [RefSeq, PubMed]; Low TEX40 expression is associated with asthenozoospermia., [RefSeq, PubMed]; The frequency of the ESRRA/C11orf20 gene fusion in serous ovarian carcinomas of stages III and IV must be very low. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005737 cytoplasm;GO:0097228 sperm principal piece;GO:0097225 sperm midpiece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation;GO:0007140 male meiotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9NTU4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30825-1", "uniprot_id": [ { "id": "CTR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30825", "type": "external" } ], "mass": 67638.0, "length": 629, "protein_name": "High affinity cationic amino acid transporter 1", "gene_name": "SLC7A1", "organism": "Human", "refseq_name": "high affinity cationic amino acid transporter 1", "refseq_ac": [ { "id": "NP_003036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003036", "type": "external" } ], "gene_names_uniprotkb": "SLC7A1; ATRC1; ERR; REC1L", "gene_names_refseq": "ATRC1; CAT-1; ERR; HCAT1; REC1L; SLC7A1", "protein_names_uniprotkb": "High affinity cationic amino acid transporter 1; CAT-1; CAT1; Ecotropic retroviral leukemia receptor homolog; Ecotropic retrovirus receptor homolog; Solute carrier family 7 member 1; System Y+ basic amino acid transporter", "protein_names_refseq": "CAT1; amino acid transporter, cationic 1; ecotropic retroviral leukemia receptor homolog; ecotropic retroviral receptor; ecotropic retrovirus receptor homolog; high affinity cationic amino acid transporter 1; solute carrier family 7 (cationic amino acid transporter, y+ system), member 1; system Y+ basic amino acid transporter", "tax_id": 9606, "disease": "proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Disease Ontology:DOID:0111666)", "pathway": " (hsa:6541); (R-HSA-352230)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;1348489;15151999;15659399;15918515;1718082;18195088;19349973;20934997;21097500;24190977;24652292;25502872;25576301;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28510447;28832583;28834231;28904123;29242379;29314611;29437277;29741879;30192525;30315122;30410026;30429286;30484775;30956113;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33968037;33981976;34087483;34171305;34357683;34433824;34509645;34725712;35051231;35154160;35251023;35318648;35561310;36010968;36215666;36241641;37074911;37938771;38502865;38547677;38665916;38752472;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "High expression of SLC7A1 in high-grade serous ovarian cancer promotes tumor progression and is involved in MAPK/ERK pathway and EMT., [RefSeq, PubMed]; High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues., [UniProtKB, PubMed, PubMed]; Oncogenic KRAS Induces Arginine Auxotrophy and Confers a Therapeutic Vulnerability to SLC7A1 Inhibition in Non-Small Cell Lung Cancer., [RefSeq, PubMed]; The solute carrier SLC7A1 may act as a protein transporter at the blood-brain barrier., [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": 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": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5JR50", "ec_number_list": [], "go_molecular_function": "GO:0000064 L-ornithine transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0001618 virus receptor activity;GO:0015174 basic amino acid transmembrane transporter activity;GO:0015189 L-lysine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0009925 basal plasma membrane", "go_biological_process": "GO:0098655 monoatomic cation transmembrane transport;GO:0006865 amino acid transport;GO:0042102 positive regulation of T cell proliferation;GO:0097638 L-arginine import across plasma membrane;GO:0015819 lysine transport", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P30825-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15843-1", "uniprot_id": [ { "id": "NEDD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15843", "type": "external" } ], "mass": 9072.0, "length": 81, "protein_name": "Ubiquitin-like protein NEDD8", "gene_name": "NEDD8", "organism": "Human", "refseq_name": "ubiquitin-like protein NEDD8", "refseq_ac": [ { "id": "NP_006147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006147", "type": "external" } ], "gene_names_uniprotkb": "NEDD8", "gene_names_refseq": "NEDD-8; NEDD8", "protein_names_uniprotkb": "Ubiquitin-like protein NEDD8; NEDD-8; Neddylin; Neural precursor cell expressed developmentally down-regulated protein 8", "protein_names_refseq": "neddylin; neural precursor cell expressed, developmentally down-regulated 8; ubiquitin-like protein NEDD8", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); Parkinson's disease (Disease Ontology:DOID:14330); malignant astrocytoma (Disease Ontology:DOID:3069)", "pathway": " (hsa:4738); (R-HSA-2173789); (R-HSA-5689603); (R-HSA-8856825); (R-HSA-8951664); (R-HSA-917937)", "pathway_count": 6, "publication_count": 297, "publication_id_list": "10097102;10318914;10436022;10535940;10567358;10597293;10613896;10769163;10811609;10878807;10973499;10983987;11069780;11071885;11076969;11100470;11141505;11237011;11247302;11259415;11292861;11292862;11323407;11390472;11454738;11454741;11585840;11588219;11733065;11919637;11927540;11953428;11961546;11988742;12086608;12101228;12186903;12215427;12221107;12234931;12429842;12451172;12453412;12464600;12482908;12504025;12504026;12526791;12538644;12609982;12682069;12717448;12730221;12759363;12816948;12944396;12958161;12958364;1317852;1333888;14576842;14662753;14690597;14726597;14757770;15001581;15044468;15134832;15201052;15242646;15282312;15350224;1535555;15361859;15367669;15473838;15531878;15537541;15564041;15567417;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;16143108;16159959;16171779;16274220;16377569;16401342;16407072;16459302;16460808;16510471;16516836;16547496;16647857;16707496;16723738;16790436;16903783;16906146;16943200;17081101;17132228;17139257;17183367;17220875;17267500;17332328;17360967;17456551;17497243;17522231;17713526;17785452;18032517;18093314;18166656;18194661;18199683;18206966;18469808;18497827;18775313;18775314;18776931;18805092;18819912;18826954;18851830;18926707;19140243;19188440;19250909;19321346;1946430;19617556;1968060;19696798;19720988;19732400;19748355;19762596;19762597;19815555;19853559;20231386;20351096;20436459;20550936;20625381;20688984;20805357;20850415;21081667;21102408;21447816;21463634;2154449;21778237;21863050;21903097;21940857;21995445;22118466;22306028;22357968;22466964;22484487;22537386;2257624;22691497;22942912;22959436;23175788;23201271;23290524;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23589306;23615448;23912815;23986495;24076655;24186068;24366543;24384571;24636985;24680432;24746795;24793695;24793696;2530630;25314029;25349211;25355947;25502872;25531226;26344709;26403691;26460955;26632597;26768311;26829388;26906416;26992070;27030794;27222660;27565346;27726376;27920218;28063628;28115426;28467828;28649982;28834231;28891468;2890644;29153394;29242379;29314611;29557506;29789417;30484775;30524438;30573663;30610225;31217245;31844290;32005965;32157095;32284348;32350084;32897882;32938616;32983136;33043033;33214551;33392160;33444648;33968037;33981976;34019948;34087483;3417785;34716866;34932366;35251023;35561310;35580925;36241641;37905484;37938771;38316879;38391033;38605244;38678024;40914422;7569928;7693660;7737999;7822302;7983023;8041788;8047140;8242743;8553074;8695634;8837779;8947046;8980228;9169477;9233797;9303539;9311995;9346966;9353319;9528852;9694792;9723620;9790970;9812899;9857030;9865696;9887101;9891082", "class_list": "", "function": "Advancements in colorectal cancer research: Unveiling the cellular and molecular mechanisms of neddylation (Review). Review article, [RefSeq, PubMed]; Blocking neddylation elicits antiviral effect against hepatitis B virus replication., [RefSeq, PubMed]; Loss of NEDD8 in cancer cells causes vulnerability to immune checkpoint blockade in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-like protein which plays an important role in cell cycle control and embryogenesis via its conjugation to a limited number of cellular proteins, such as cullins or p53/TP53 (PubMed:10318914, PubMed:10597293, PubMed:11953428, PubMed:14690597, PubMed:15242646, PubMed:9694792, PubMed:38605244, PubMed:38316879). Attachment of NEDD8 to cullins is critical for the recruitment of E2 to the cullin-RING-based E3 ubiquitin-protein ligase complex, thus facilitating polyubiquitination and proteasomal degradation of cyclins and other regulatory proteins (PubMed:10318914, PubMed:10597293, PubMed:11953428, PubMed:20688984, PubMed:9694792, PubMed:38605244, PubMed:38316879). Attachment of NEDD8 to p53/TP53 inhibits p53/TP53 transcriptional activity (PubMed:15242646). Covalent attachment to its substrates requires prior activation by the E1 complex UBE1C-APPBP1 and linkage to the E2 enzyme UBE2M (PubMed:14690597). Neddylates EGFR resulting in protein stabilization and translocation to the cell membrane (PubMed:28891468)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; [Differential expression of NEDD8 in different pathological types of chronic rhinosinusitis with nasal polyps]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3SXN8;Q6LES6", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0031386 protein tag activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0036211 protein modification process;GO:0006508 proteolysis;GO:0030162 regulation of proteolysis;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0072757 cellular response to camptothecin", "synthesized_glycan_count": 0, "hit_score": 30.0, "record_id": "Q15843-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAF8-1", "uniprot_id": [ { "id": "LHPL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAF8", "type": "external" } ], "mass": 24201.0, "length": 219, "protein_name": "LHFPL tetraspan subfamily member 5 protein", "gene_name": "LHFPL5", "organism": "Human", "refseq_name": "LHFPL tetraspan subfamily member 5 protein", "refseq_ac": [ { "id": "NP_872354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872354", "type": "external" } ], "gene_names_uniprotkb": "LHFPL5; TMHS", "gene_names_refseq": "DFNB67; LHFPL5; TMHS; dJ510O8.8", "protein_names_uniprotkb": "LHFPL tetraspan subfamily member 5 protein; Lipoma HMGIC fusion partner-like 5 protein; Tetraspan membrane protein of hair cell stereocilia", "protein_names_refseq": "LHFP-like protein 5; LHFPL tetraspan subfamily member 5 protein; lipoma HMGIC fusion partner-like 5 protein; tetraspan membrane protein of hair cell stereocilia", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 67 (Disease Ontology:DOID:0110518)", "pathway": " (hsa:222662); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10025409;10821263;11163272;11237011;15905332;16459341;16752389;19102128;21816241;26437881;27862975;28281779;31844290;33168709;37837560", "class_list": "", "function": "Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of the shorter stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15. Functionally couples PCDH15 to the transduction channel., [UniProtKB, UniProtKB]; Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding., [RefSeq, PubMed]; Five microsatellites in the 6p21.31e22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic hearing loss., [RefSeq, PubMed]; Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies, [RefSeq, PubMed]; Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5., [RefSeq, PubMed]; The authors present an overview of the LHFP gene family in mouse and humans, [RefSeq, PubMed]; These findings establish the importance of TMHS for normal sound transduction in humans., [RefSeq, PubMed]; This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KX66", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0032426 stereocilium tip;GO:0016020 membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007605 sensory perception of sound;GO:0050974 detection of mechanical stimulus involved in sensory perception", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8TAF8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99519-1", "uniprot_id": [ { "id": "NEUR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99519", "type": "external" } ], "mass": 45467.0, "length": 415, "protein_name": "Sialidase-1", "gene_name": "NEU1", "organism": "Human", "refseq_name": "sialidase-1 precursor", "refseq_ac": [ { "id": "NP_000425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000425", "type": "external" } ], "gene_names_uniprotkb": "NEU1; NANH", "gene_names_refseq": "NANH; NEU1; NEU; SIAL1", "protein_names_uniprotkb": "Sialidase-1; 3.2.1.18; Acetylneuraminyl hydrolase; G9 sialidase; Lysosomal neuraminidase; Lysosomal sialidase; N-acetyl-alpha-neuraminidase 1; Neuraminidase-1", "protein_names_refseq": "G9 sialidase; N-acetyl-alpha-neuraminidase 1; acetylneuraminyl hydrolase; exo-alpha-sialidase; lysosomal sialidase; sialidase 1 (lysosomal sialidase); sialidase-1 precursor", "tax_id": 9606, "disease": "mucolipidosis (Disease Ontology:DOID:0080488); glycoproteinosis (Disease Ontology:DOID:3343); sialidosis (MONDO:MONDO:0017734)", "pathway": " (hsa:4758); (R-HSA-4085001); (R-HSA-4341670); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 5, "publication_count": 230, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10196694;10206952;10330343;10334995;10405317;10406958;10431835;10504389;10536037;10581036;10742600;10749855;10767332;10781797;10823942;10861246;10942779;10944856;10947946;10993717;11062056;11063730;11237011;11279074;11279095;11350180;11489889;11528398;11571282;11602804;11702224;11707436;11751519;11784319;11829139;11916006;12177386;12235148;12374214;12473780;12510003;12518053;12566438;12594539;12603328;12662933;12668675;12743242;12885774;12888274;12909021;1352293;1352993;14517945;14656967;14695530;14962670;15003450;15136692;15213228;15458386;15501818;15576474;15714521;15773042;15845354;16094384;16147865;16229686;16230343;16237198;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;17123352;1718266;1720305;1740330;1756715;18292551;1840600;18524657;18632803;1889421;1907800;1915858;19159218;19405096;19797320;19836391;2001789;20728381;21081508;22692205;23090970;235289;23650620;239890;24190977;24715725;25153125;25502872;25576301;2562955;25645385;25880248;26375851;26992070;27029067;2717620;27600516;27846572;27917893;27920218;28126847;28228285;28467828;28832583;28904123;29242379;29314611;29443946;29493099;29557506;2960521;29632711;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29802621;3014515;30192525;30315122;30429286;3048308;30484775;30626607;30779550;31154438;31217245;3136930;31495489;3158659;31611695;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32897882;32938616;32983136;33141586;33592498;33798445;33912179;33968037;33981976;34087483;34357683;34433824;3456607;35014832;35051231;35154160;35251023;35561310;35580925;36241641;36284347;37074911;37205763;37844713;37926573;38505872;38663826;38665916;39940;40914422;5135907;5164093;527942;5822067;7252518;7504405;7559389;7628016;7730378;7744740;7852280;8281145;8333853;8370580;8399327;8573994;8591035;8611500;8631981;8663398;8692836;8804427;8889578;8920913;8955159;8985184;9010752;9020182;9054950;9199191;9217013;9338580;9480870;9520418;9521684;9822625;9826427", "class_list": "glycogene;glycosylhydrolase", "function": "Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage., [UniProtKB, UniProtKB, UniProtKB]; Desialylation of ATG5 by sialidase (NEU1) promotes macrophages autophagy and exacerbates inflammation under hypoxia., [RefSeq, PubMed]; HDAC1-Mediated Downregulation of NEU1 Exacerbates the Aggressiveness of Cervical Cancer., [RefSeq, PubMed]; Inhibition of neuraminidase-1 sialidase activity by interfering peptides impairs insulin receptor activity in vitro and glucose homeostasis in vivo., [RefSeq, PubMed]; Lysosomal exo-alpha-sialidase that catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex (PubMed:14695530, PubMed:25153125, PubMed:37205763, PubMed:8985184, PubMed:9054950). Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Neuraminidase-1 (Neu1) in complex with matrix metalloproteinase-9 and G protein-coupled receptor tethered to RTKs and TLRs is identified as a major target in multistage tumorigenesis [review] Review article, [RefSeq, PubMed]; Summary of NEU1 mutations found in sialidosis patients. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]., [RefSeq]; [The expression of neuraminidase-1 in Ewing sarcoma and its impact on sarcoma cell proliferation and migration]., [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": 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": 3, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 463, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 32, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0016997 alpha-sialidase activity;GO:0004308 exo-alpha-sialidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030054 cell junction", "go_biological_process": "GO:0006689 ganglioside catabolic process;GO:0009313 oligosaccharide catabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 26.7, "record_id": "Q99519-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JN0-1", "uniprot_id": [ { "id": "LCOR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JN0", "type": "external" } ], "mass": 47007.0, "length": 433, "protein_name": "Ligand-dependent corepressor", "gene_name": "LCOR", "organism": "Human", "refseq_name": "ligand-dependent corepressor isoform 1", "refseq_ac": [ { "id": "NP_001164236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164236", "type": "external" } ], "gene_names_uniprotkb": "LCOR; C10orf12; KIAA1795; MLR2", "gene_names_refseq": "C10orf12; LCOR; MLR2", "protein_names_uniprotkb": "Ligand-dependent corepressor; LCoR; Mblk1-related protein 2", "protein_names_refseq": "ligand-dependent corepressor isoform 1; mblk1-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84458)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;12535528;12700765;17525332;20068231;23186163;24129315;25576301;26960196;28514659;28832583;29242379;29508533;31848261;32157095;32938616;32983136;33392160;33912179;34019948;34410950;35051231;35254053;35494241;35580925;38253038;39531497", "class_list": "", "function": "Data show that LCoR (ligand-dependent nuclear receptor corepressor) represents a class of corepressor that attenuates agonist-activated nuclear receptor signaling by multiple mechanisms [Ligand-dependent nuclear receptor corepressor]., [RefSeq, PubMed]; LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]., [RefSeq]; May act as transcription activator that binds DNA elements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3' (By similarity). Repressor of ligand-dependent transcription activation by target nuclear receptors. Repressor of ligand-dependent transcription activation by ESR1, ESR2, NR3C1, PGR, RARA, RARB, RARG, RXRA and VDR., [UniProtKB, PubMed]; The Expression of NRIP1 and LCOR in Endometrioid Endometrial 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": 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": 1, "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": "D3DR47;Q5VW16;Q7Z723;Q86T32;Q86T33;Q8N3L6;Q8N655;Q9H945;Q9Y457", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding;GO:0030331 nuclear estrogen receptor binding;GO:1990381 ubiquitin-specific protease binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0071392 cellular response to estradiol stimulus;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96JN0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61081-1", "uniprot_id": [ { "id": "UBC12_HUMAN", "url": "https://www.uniprot.org/uniprot/P61081", "type": "external" } ], "mass": 20900.0, "length": 183, "protein_name": "NEDD8-conjugating enzyme Ubc12", "gene_name": "UBE2M", "organism": "Human", "refseq_name": "NEDD8-conjugating enzyme Ubc12", "refseq_ac": [ { "id": "NP_003960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003960", "type": "external" } ], "gene_names_uniprotkb": "UBE2M; UBC12", "gene_names_refseq": "UBC-RS2; UBC12; UBE2M; hUbc12", "protein_names_uniprotkb": "NEDD8-conjugating enzyme Ubc12; 2.3.2.34; NEDD8 carrier protein; Ubiquitin-conjugating enzyme E2 M", "protein_names_refseq": "NEDD8 carrier protein; NEDD8 protein ligase; NEDD8-conjugating enzyme Ubc12; epididymis secretory sperm binding protein; ubiquitin carrier protein M; ubiquitin conjugating enzyme E2M; ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast); ubiquitin-protein ligase M; yeast UBC12 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9040); (R-HSA-2173789); (R-HSA-5607761); (R-HSA-5676590); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 6, "publication_count": 223, "publication_id_list": "10207026;10535940;10597293;10811609;10828074;10878807;10973499;11062501;11069780;11100470;11141505;11237011;11239468;11259415;11292861;11292862;11350924;11390472;11454738;11520989;11585840;11733065;11961546;12101228;12186903;12482908;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;1333888;14676825;14690597;14734113;14757770;15140882;15224091;15224092;15282312;15340381;15350224;15361859;15367669;15537541;15564041;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16303288;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17047224;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18469808;18662542;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19122653;19250909;19321346;19352404;19452197;19489725;19608861;19617556;19720988;19748355;19851334;19874575;19940261;20068230;20501935;20625381;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22718757;22959436;23201271;23290524;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24129315;24192928;24366543;24366607;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28218747;28228285;28510447;28581483;28832583;28834231;29153394;29242379;29393594;29437277;29493099;29557506;29632046;30315122;30429286;30610225;31530632;31844290;31848261;31998317;32005965;32157095;32161166;32284348;32350084;32357974;32387766;32897882;33214551;33392160;33444648;33592498;33691108;33905671;33912179;33936100;33968037;34019948;34229054;34357683;34725712;35051231;35138101;35318648;35580925;37316325;38126621;38665916;39138151;7693660;7737999;8047140;8242743;8706131;8921937;8947046;8980228;9233797;9311995;9346238;9346966;9380723;9520446;9668046;9694792;9742107;9790970;9865696;9887101;9891082", "class_list": "", "function": "Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; NNMT/1-MNA Promote Cell-Cycle Progression of Breast Cancer by Targeting UBC12/Cullin-1-Mediated Degradation of P27 Proteins., [RefSeq, PubMed]; NPRL2 reduces the niraparib sensitivity of castration-resistant prostate cancer via interacting with UBE2M and enhancing neddylation., [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: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]., [RefSeq]; UBE2M forms a positive feedback loop with estrogen receptor to drive breast cancer progression and drug 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 19, "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": "O76069;Q8VC50", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0061654 NEDD8 conjugating enzyme activity;GO:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0019788 NEDD8 transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol", "go_biological_process": "GO:0036211 protein modification process;GO:0043687 post-translational protein modification;GO:0045116 protein neddylation;GO:0150052 regulation of postsynapse assembly;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "P61081-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70EK8-1", "uniprot_id": [ { "id": "UBP53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70EK8", "type": "external" } ], "mass": 120806.0, "length": 1073, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 53", "gene_name": "USP53", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 53 isoform 1", "refseq_ac": [ { "id": "NP_061923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061923", "type": "external" } ], "gene_names_uniprotkb": "USP53; KIAA1350", "gene_names_refseq": "PFIC7; USP53", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 53; 3.4.19.12; Ubiquitin-specific peptidase 53", "protein_names_refseq": "inactive ubiquitin carboxyl-terminal hydrolase 53; inactive ubiquitin-specific peptidase 53; ubiquitin carboxyl-terminal hydrolase 53 isoform 1; ubiquitin specific protease 53; ubiquitin specific proteinase 53", "tax_id": 9606, "disease": "progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221); cholestasis, progressive familial intrahepatic, 7, with or without hearing loss (MONDO:MONDO:0030503)", "pathway": " (hsa:54532)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;14715245;20332099;24715725;25576301;25645385;26375851;28228285;29242379;29371260;29557506;29786170;30250217;30315122;30379171;30429286;30779550;31154438;31844290;31848261;32124521;32157095;32387766;32759993;33075013;33083013;33298915;33592498;33661244;33664230;33968037;33973730;33981976;34919659;35051231;35318648;35580925;36215666;36284347;37314652;37992747;38204320;38544763;39440620;39587316", "class_list": "", "function": "Deubiquitinase that mediates 'Lys-63'-linked deubiquitination of tight junction proteins, such as MARVELD2 and LSR, and which is involved in the survival of auditory hair cells and hearing (PubMed:32124521, PubMed:39587316). Specifically cleaves 'Lys-63'-linked polyubiquitin chains composed of at least 3 ubiquitin molecules, while it is not able to deubiquitinate substrates with shorter ubiquitin chains: recognizes ubiquitin chain in position S2 and catalyzes en bloc cleavage of polyubiquitin chains from substrate proteins (PubMed:39587316). Probably acts by modulating the barrier properties and mechanical stability of tight junctions via deubiquitination of MARVELD2 and LSR (PubMed:32124521, PubMed:39587316)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; USP53 activated by H3K27 acetylation regulates cell viability, apoptosis and metabolism in esophageal carcinoma via the AMPK signaling pathway., [RefSeq, PubMed]; Ubiquitin-specific peptidase 53 inhibits the occurrence and development of clear cell renal cell carcinoma through NF-kappaB pathway inactivation., [RefSeq, PubMed]; Ubiquitin-specific protease 53 promotes osteogenic differentiation of human bone marrow-derived mesenchymal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q68DA5;Q8WVQ5;Q9P2J7", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0061578 K63-linked deubiquitinase activity;GO:0004843 cysteine-type deubiquitinase activity", "go_cellular_component": "GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0016579 protein deubiquitination;GO:0010996 response to auditory stimulus;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q70EK8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y397-1", "uniprot_id": [ { "id": "ZDHC9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y397", "type": "external" } ], "mass": 40916.0, "length": 364, "protein_name": "Palmitoyltransferase ZDHHC9", "gene_name": "ZDHHC9", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC9", "refseq_ac": [ { "id": "NP_001008223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008223", "type": "external" } ], "gene_names_uniprotkb": "ZDHHC9; CGI-89; CXorf11; PRO298; ZDHHC10; ZNF379; ZNF380", "gene_names_refseq": "CGI89; CXorf11; DHHC9; MMSA1; MRXSR; MRXSZ; ZDHHC10; ZDHHC9; ZNF379; ZNF380", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC9; 2.3.1.225; DHHC-9; DHHC9; Zinc finger DHHC domain-containing protein 9; Zinc finger protein 379; Zinc finger protein 380", "protein_names_refseq": "Asp-His-His-Cys domain containing protein 9; antigen MMSA-1; palmitoyltransferase ZDHHC9; zinc finger DHHC-type containing 9; zinc finger DHHC-type palmitoyltransferase 9; zinc finger protein 379; zinc finger protein 380; zinc finger, DHHC domain containing 10", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability Raymond type (Disease Ontology:DOID:0060824)", "pathway": " (hsa:51114); (R-HSA-9648002); (R-HSA-9694548)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10085068;10085069;10667208;11038283;11120601;11196150;11237011;11585916;11739732;12433685;12727204;12750467;12975309;14561760;14660603;14966563;15451670;15659645;16000296;16043511;16193335;16483930;17436253;18182391;18502828;19188362;19377476;20416930;20418879;20622895;20802526;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22589270;22721555;22915798;23514631;23698361;23943869;24033119;24725411;24971579;25550383;25713064;25759176;25781681;26085527;26590425;2661017;26701913;26706195;26771141;26811146;2682646;27094677;27396271;27410739;27481942;27697864;27791178;27846572;28167504;28630138;28666118;28778966;29242379;29311131;29424242;29437277;29632046;29786170;31844290;32157095;32161166;32265295;32363391;32366695;32387766;32518941;32676595;32877642;33310888;33592498;33936100;34117209;34357683;34428449;34433824;34528721;34599882;34961524;35051231;36215666;37802025;37938771;38530158;38599239;7986008;9436858;9810004;9822558;9851253", "class_list": "", "function": "(Microbial infection) Through a sequential action with ZDHHC20, rapidly and efficiently palmitoylates SARS coronavirus-2/SARS-CoV-2 spike protein following its synthesis in the endoplasmic reticulum (ER). In the infected cell, promotes spike biogenesis by protecting it from premature ER degradation, increases half-life and controls the lipid organization of its immediate membrane environment. Once the virus has formed, spike palmitoylation controls fusion with the target cell., [UniProtKB, PubMed]; Data show that H- and N-Ras are palmitoylated by a human protein palmitoyltransferase encoded by the ZDHHC9 and GCP16 genes., [RefSeq, PubMed]; Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as ADRB2, GSDMD, HRAS, NRAS and CGAS (PubMed:16000296, PubMed:27481942, PubMed:37802025, PubMed:38530158, PubMed:38599239). The ZDHHC9-GOLGA7 complex is a palmitoyltransferase specific for HRAS and NRAS (PubMed:16000296). May have a palmitoyltransferase activity toward the beta-2 adrenergic receptor/ADRB2 and therefore regulate G protein-coupled receptor signaling (PubMed:27481942). Acts as a regulator of innate immunity by catalyzing palmitoylation of CGAS, thereby promoting CGAS homodimerization and cyclic GMP-AMP synthase activity (PubMed:37802025). Activates pyroptosis by catalyzing palmitoylation of gasdermin-D (GSDMD), thereby promoting membrane translocation and pore formation of GSDMD (PubMed:38530158, PubMed:38599239)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifically palmitoylates HRAS and NRAS. Mutations in this gene are associated with X-linked cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4F6G2;D3DTF9;Q59EK4;Q5JSW5;Q8WWS7;Q9BPY4;Q9NSP0;Q9NVL0;Q9NVR6", "ec_number_list": [ { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.225", "type": "external" }, { "id": "6.3.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.1.2", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0043849 Ras palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0000165 MAPK cascade;GO:0006612 protein targeting to membrane;GO:0044794 host-mediated activation of viral process;GO:0018230 peptidyl-L-cysteine S-palmitoylation", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9Y397-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24593-1", "uniprot_id": [ { "id": "IBP5_HUMAN", "url": "https://www.uniprot.org/uniprot/P24593", "type": "external" } ], "mass": 30570.0, "length": 272, "protein_name": "Insulin-like growth factor-binding protein 5", "gene_name": "IGFBP5", "organism": "Human", "refseq_name": "insulin-like growth factor-binding protein 5 precursor", "refseq_ac": [ { "id": "NP_000590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000590", "type": "external" } ], "gene_names_uniprotkb": "IGFBP5; IBP5", "gene_names_refseq": "IBP5; IGFBP5", "protein_names_uniprotkb": "Insulin-like growth factor-binding protein 5; IBP-5; IGF-binding protein 5; IGFBP-5", "protein_names_refseq": "IBP-5; IGF-binding protein 5; IGFBP-5; insulin-like growth factor-binding protein 5 precursor", "tax_id": 9606, "disease": "pulmonary fibrosis (Disease Ontology:DOID:3770); congenital diaphragmatic hernia (Disease Ontology:DOID:3827)", "pathway": " (hsa:3488); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 100, "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;15126567;15308688;15469690;15485880;15525596;15642270;17047378;1709938;17249697;17312271;17985932;1850257;1850258;18930415;20345844;22117064;23584533;24505115;24715725;2476804;2479552;25813380;26091039;26103640;26992070;29557506;30429286;30459171;31844290;32157095;32350084;32983136;33592498;35251023;35318648;35494241;35580925;36010968;36949068;37938771;38351010;38665916;38874707;38886900;38896333;39456001;7511611;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7683690;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9822601;9883900;9922210", "class_list": "", "function": "A novel role of IGFBP5 in the migration, invasion and spheroids formation induced by IGF-I and insulin in MCF-7 breast cancer cells., [RefSeq, PubMed]; Apoptotic vesicles from macrophages exacerbate periodontal bone resorption in periodontitis via delivering miR-143-3p targeting Igfbp5. Publication Status: Online-Only, [RefSeq, PubMed]; Deletion of endothelial IGFBP5 protects against ischaemic hindlimb injury by promoting angiogenesis., [RefSeq, PubMed]; IGFBP5 is released by senescent cells and is internalized by healthy cells, promoting their senescence through interaction with retinoic receptors. Publication Status: Online-Only, [RefSeq, PubMed]; Mir-204-5p alleviates mitochondrial dysfunction by targeting IGFBP5 in diabetic cataract. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional protein that plays a critical role in regulating the availability of IGFs to their receptors and thereby regulates IGF-mediated cellular processes including proliferation, differentiation, and apoptosis in a cell-type specific manner (PubMed:18930415, PubMed:7683690). Increases the cell proliferation of osteoblasts, intestinal smooth muscle cells and neuroblastoma cells. Enhances adhesion and survival of epithelial cells but decreases adhesion of mesenchymal cells (By similarity). Once secreted, acts as a major mediator of mTORC1-dependent feedback inhibition of IGF1 signaling (By similarity). Also plays a role in the induction of extracellular matrix (ECM) production and deposition independently of its nuclear translocation and binding to IGFs (PubMed:20345844, PubMed:26103640). Acts itself as a growth factor that can act independently of IGFs to regulate bone formation. Acts as a ligand for the ROR1 receptor which triggers formation of ROR1/HER2 heterodimer to enhance CREB oncogenic signaling (PubMed:36949068)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5U0A3", "ec_number_list": [], "go_molecular_function": "GO:0001968 fibronectin binding;GO:0048018 receptor ligand activity;GO:0031994 insulin-like growth factor I binding;GO:0031995 insulin-like growth factor II binding;GO:0005520 insulin-like growth factor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005788 endoplasmic reticulum lumen;GO:0042567 insulin-like growth factor ternary complex", "go_biological_process": "GO:0007165 signal transduction;GO:0008283 cell population proliferation;GO:0035556 intracellular signal transduction;GO:0048286 lung alveolus development;GO:0071320 cellular response to cAMP", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "P24593-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWQ8-1", "uniprot_id": [ { "id": "PHAG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWQ8", "type": "external" } ], "mass": 46981.0, "length": 432, "protein_name": "Phosphoprotein associated with glycosphingolipid-enriched microdomains 1", "gene_name": "PAG1", "organism": "Human", "refseq_name": "phosphoprotein associated with glycosphingolipid-enriched microdomains 1", "refseq_ac": [ { "id": "NP_060910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060910", "type": "external" } ], "gene_names_uniprotkb": "PAG1; CBP; PAG", "gene_names_refseq": "CBP; PAG1; PAG", "protein_names_uniprotkb": "Phosphoprotein associated with glycosphingolipid-enriched microdomains 1; Csk-binding protein; Transmembrane adapter protein PAG; Transmembrane phosphoprotein Cbp", "protein_names_refseq": "Csk-binding protein; phosphoprotein associated with glycosphingolipid microdomains 1; phosphoprotein associated with glycosphingolipid-enriched microdomains 1; transmembrane adapter protein PAG; transmembrane adaptor protein PAG; transmembrane phosphoprotein Cbp", "tax_id": 9606, "disease": "", "pathway": " (hsa:55824); (R-HSA-180292); (R-HSA-202427)", "pathway_count": 3, "publication_count": 65, "publication_id_list": "10648629;10734310;10790433;10913131;11323411;11606067;11684085;11827988;12766170;12938237;14560030;14665621;14701753;14967142;15084594;15144186;15231819;15489910;15489916;15574420;15659558;16160011;16364187;16461343;16497976;16920712;18056706;18070987;18083107;18452278;19690332;20346773;21543337;22426112;22659621;23071622;23580664;2530588;25576301;27600516;27846572;28832583;29242379;29493099;29508533;29786170;30429286;31125786;31844290;32157095;32350084;32387766;32726167;32983136;33215426;33633747;34083754;34433824;34509645;35051231;35580925;36284347;37852106;9356464;9890893", "class_list": "", "function": "Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Promotes CSK activation and recruitment to lipid rafts, which results in LCK inhibition. Inhibits immunological synapse formation by preventing dynamic arrangement of lipid raft proteins. May be involved in cell adhesion signaling., [UniProtKB, PubMed]; PAG1 directs SRC-family kinase intracellular localization to mediate receptor tyrosine kinase-induced differentiation., [RefSeq, PubMed]; PAG1 stimulates proliferation and metastasis of nasopharyngeal carcinoma through downregulating PTEN., [RefSeq, PubMed]; The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of phosphoprotein associated with glycosphingolipid-enriched microdomains 1 (PAG1) in regulating the progression of oral squamous cell carcinoma., [RefSeq, PubMed]; Transmembrane adaptor protein PAG is a mediator of PD-1 inhibitory signaling in human T cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 15, "reported_mutagensis": 10, "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": "A8K1A3;Q2M1Z9;Q5BKU4;Q9NYK0", "ec_number_list": [], "go_molecular_function": "GO:0042169 SH2 domain binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0002250 adaptive immune response;GO:0050868 negative regulation of T cell activation;GO:0050863 regulation of T cell activation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9NWQ8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20036-1", "uniprot_id": [ { "id": "DPA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20036", "type": "external" } ], "mass": 29381.0, "length": 260, "protein_name": "HLA class II histocompatibility antigen, DP alpha 1 chain", "gene_name": "HLA-DPA1", "organism": "Human", "refseq_name": "HLA class II histocompatibility antigen, DP alpha 1 chain precursor", "refseq_ac": [ { "id": "NP_001229453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229453", "type": "external" } ], "gene_names_uniprotkb": "HLA-DPA1; HLA-DP1A; HLASB", "gene_names_refseq": "DP(W3); DP(W4); DPA1; HLA-DP1A; HLA-DPA1; HLA-DPA; HLADP; HLASB; PLT1", "protein_names_uniprotkb": "HLA class II histocompatibility antigen, DP alpha 1 chain; DP(W3); DP(W4); HLA-SB alpha chain; MHC class II DP3-alpha; MHC class II DPA1", "protein_names_refseq": "HLA DPA1; HLA class II histocompatibility antigen, DP alpha 1 chain precursor; HLA class II histocompatibility antigen, DP alpha 1 chain; HLA-SB alpha chain; MHC class II DP alpha chain; MHC class II DP3-alpha; MHC class II HLA-DPA1 antigen; MHC class II anitgen; MHC class II antigen DP alpha chain; MHC class II protein", "tax_id": 9606, "disease": "onchocerciasis (Disease Ontology:DOID:11678); hepatitis B (Disease Ontology:DOID:2043); asthma (Disease Ontology:DOID:2841); liver cirrhosis (Disease Ontology:DOID:5082); hepatocellular carcinoma (Disease Ontology:DOID:684); Crohn's disease (Disease Ontology:DOID:8778); allergic asthma (Disease Ontology:DOID:9415); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3113); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-2132295); (R-HSA-389948); (R-HSA-877300)", "pathway_count": 8, "publication_count": 277, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10067896;10072072;10358176;10480952;10501844;10540230;10593899;10631941;10631952;10639150;10671560;10698680;10716940;10747096;10748235;10790433;10809954;10811803;10986460;11019928;11048639;11237011;11358993;11390650;11529500;11607830;11684289;11752630;11790530;11813165;11827988;11853874;11884229;11972023;12040185;12078484;12198549;12438563;12446674;12473184;12485116;12660731;12742663;12748383;12893276;12915721;12938237;12947224;1396683;14510693;14514672;14586410;14722222;14731593;15084594;1508672;15122200;15125833;15143187;15145317;15322115;15358536;15371334;15388922;15489910;15489916;15530433;15541657;15663751;15749704;15911768;16056267;16181339;16237089;16242130;16356853;16356855;16364187;16461343;16467876;16612002;16618111;16824007;16978534;17047224;17072321;17125875;17135271;17142755;17241953;17283181;17363905;17468049;17496917;17548359;17652306;17728323;18046453;18173375;18292509;18362138;18380777;18489436;18512783;18591661;18759926;18838095;18991276;19092054;19159218;19533806;1956401;19564404;20049711;20130243;20304997;20346773;20363976;21116285;21154117;2121367;21441454;21543337;2190094;22424782;22426112;23061660;23302904;23328677;2354878;23580664;23719902;2391366;24190977;24397554;24417533;2447636;2461352;24714562;24715725;2530588;25502872;25505266;25576301;25645385;25880248;26154972;26811146;26992070;27090790;27397612;27726376;27846572;27862975;28165004;28265006;28467828;28904123;29242379;29557506;29741879;29863979;2997750;3036829;30429286;30484775;30522017;31020640;31217245;31313098;31844290;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33239784;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34087483;34211107;34357683;34433824;34561969;34932366;35051231;35154160;35318648;35580925;36215666;36284347;36974749;37074911;37899135;37938771;37980631;38454348;38932664;6300884;6584734;7479848;7481823;7510216;7514165;7530745;7565724;7592972;7615558;7617032;7650016;7657660;7667286;7673114;7690989;7725312;7796299;7806277;8046351;8134367;8145819;8148318;8156998;8176225;8313912;8397411;8415765;8483949;8520027;8530158;8550590;8550631;8598037;8601309;8631301;8642258;8687433;8798379;8824201;8849454;8909537;8939989;8947036;8988544;9075930;9111318;9115214;9143706;9202021;9234495;9252186;9311912;9312039;9362451;9366419;9497313;9539769;9545226;9606180;9687533;9694359;9846482;9850860;9990853", "class_list": "", "function": "Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation of proteins that access the endocytic route, where they are processed by lysosomal proteases and other hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous. As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO. Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and efficient peptide loading., [UniProtKB]; Bioinformatics analysis identifies a key gene HLA_DPA1 in severe influenza-associated immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Characterisation of five new variants of HLA-DPA1., [RefSeq, PubMed]; HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]., [RefSeq]; HLA-DPA1 overexpression inhibits cancer progression, reduces resistance to cisplatin, and correlates with increased immune infiltration in lung adenocarcinoma., [RefSeq, PubMed]; Single Nucleotide Polymorphism rs9277336 Controls the Nuclear Alpha Actinin 4-Human Leukocyte Antigen-DPA1 Axis and Pulmonary Endothelial Pathophenotypes in Pulmonary Arterial Hypertension., [RefSeq, PubMed]; The effect of HLA-DP gene polymorphisms in Plasmodium Vivax-induced malaria susceptibility., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 60, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A9YWH7;B9UKH4;O19722;O46883;P01905;P79554;Q2Q060;Q2Q061;Q5EY03;Q5STP1;Q6DQK4;Q9BCQ1;Q9TPX3;Q9XS10", "ec_number_list": [], "go_molecular_function": "GO:0023026 MHC class II protein complex binding;GO:0042605 peptide antigen binding;GO:0032395 MHC class II receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0032588 trans-Golgi network membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006955 immune response;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0002503 peptide antigen assembly with MHC class II protein complex;GO:0002250 adaptive immune response;GO:0032729 positive regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 34.1, "record_id": "P20036-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15054-1", "uniprot_id": [ { "id": "DPOD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15054", "type": "external" } ], "mass": 51400.0, "length": 466, "protein_name": "DNA polymerase delta subunit 3", "gene_name": "POLD3", "organism": "Human", "refseq_name": "DNA polymerase delta subunit 3 isoform 1", "refseq_ac": [ { "id": "NP_006582", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006582", "type": "external" } ], "gene_names_uniprotkb": "POLD3; KIAA0039", "gene_names_refseq": "IMD122; P66; P68; POLD3; PPP1R128", "protein_names_uniprotkb": "DNA polymerase delta subunit 3; DNA polymerase delta subunit C; DNA polymerase delta subunit p66; DNA polymerase delta subunit p68", "protein_names_refseq": "DNA polymerase delta subunit 3 isoform 1; DNA polymerase delta subunit C; DNA polymerase delta subunit p66; DNA polymerase delta subunit p68; Pol delta C subunit (p66); polymerase (DNA) delta 3, accessory subunit; polymerase (DNA-directed), delta 3, accessory subunit; protein phosphatase 1, regulatory subunit 128", "tax_id": 9606, "disease": "immunodeficiency 122 (Disease Ontology:DOID:0061088)", "pathway": " (hsa:10714); (R-HSA-110314); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174437); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183)", "pathway_count": 19, "publication_count": 237, "publication_id_list": "10078208;10219083;10329413;10460157;10473346;10559261;10656791;10656792;10660545;10744741;10751307;10801132;10852724;10856253;10938287;10959839;10984059;11005803;11006276;11237011;11250913;11274057;11328591;11441019;11473323;11595739;11601988;11687589;11698410;11724925;11809771;11809883;11884592;12200445;12226657;12403614;12444249;12522211;12766176;12930902;1328683;14517266;14636568;14676842;15007108;15066120;15199127;15225546;15590680;15916957;16143102;16188885;16246722;16337601;16464020;16510448;16531995;1671046;16793375;1682322;16855289;16873062;16934752;17000769;17043239;17081983;17317665;17322306;17426132;17466625;17466626;17512402;17531815;17720710;17948053;17984070;18079701;18212344;18326858;18342608;18452278;18593712;18669648;18691976;18767875;18818516;19007248;19074196;19074197;19153606;19223468;19228687;19279666;19369195;19413330;19415658;19651622;1974050;19940136;19941829;20068231;20129063;20154325;20160730;20227374;20334433;20551483;20571119;20713735;20970388;21143968;21248752;21282463;21406692;21496642;21561855;21628590;2165567;21937421;22081108;22118461;22148433;22179786;22223895;22277660;22460582;22700975;22801543;22859295;22952233;23000965;23065663;23143872;23186163;23391514;23593430;23604072;23622243;23686288;23731732;23840062;23913683;24035200;24038470;24115439;24310611;24402227;24449906;24485656;24714562;24715725;24768535;25218447;25628356;25880248;26154972;26375851;26811146;26982350;26992070;27185888;27600516;27849570;2842325;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632046;29786170;3004351;30379171;30779550;31222486;31373491;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32938616;32983136;33392160;33592498;33691108;33912179;33968037;33981976;34171305;34932366;35051231;35580925;35786622;36010968;36718939;37030525;37938771;38099988;40914422;7378348;7700386;7711022;7713898;7876218;8078911;8104944;8128251;8131753;8144677;8505312;8658138;8751446;8805365;8954124;9081985;9099749;9191022;9214649;9294177;9428522;9430682;9469823;9649448;9660172;9677427;9699634;9716411;9780000;9822671;9822680;9875289;9882630", "class_list": "", "function": "Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex (PubMed:17317665, PubMed:22801543, PubMed:24449906). As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair. Required for optimal Pol-delta activity. Stabilizes the Pol-delta complex and plays a major role in Pol-delta stimulation by PCNA (PubMed:10219083, PubMed:10852724, PubMed:11595739, PubMed:16510448, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation. In this context, POLD3, along with PCNA and RFC1-replication factor C complex, is required to recruit POLD1, the catalytic subunit of the polymerase delta complex, to DNA damage sites (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by promoting extension from the nucleotide inserted opposite the lesion (PubMed:19074196, PubMed:25628356, PubMed:27185888). Also involved in TLS, as a component of the tetrameric DNA polymerase zeta complex. Along with POLD2, dramatically increases the efficiency and processivity of DNA synthesis of the DNA polymerase zeta complex compared to the minimal zeta complex, consisting of only REV3L and REV7 (PubMed:24449906)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interaction of CCND2, CDKN1A, and POLD3 Variants in Mexican Patients with Colorectal Cancer., [RefSeq, PubMed]; Interaction of human HelQ with DNA polymerase delta halts DNA synthesis and stimulates DNA single-strand annealing., [RefSeq, PubMed]; POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment., [RefSeq, PubMed]; This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 6, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7ZAI6;Q32MZ9;Q32N00", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0043625 delta DNA polymerase complex;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016035 zeta DNA polymerase complex", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006271 DNA strand elongation involved in DNA replication;GO:0006297 nucleotide-excision repair, DNA gap filling;GO:0006298 mismatch repair;GO:0000731 DNA synthesis involved in DNA repair", "synthesized_glycan_count": 0, "hit_score": 24.2, "record_id": "Q15054-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5XKK7-1", "uniprot_id": [ { "id": "F219B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5XKK7", "type": "external" } ], "mass": 21103.0, "length": 198, "protein_name": "Protein FAM219B", "gene_name": "FAM219B", "organism": "Human", "refseq_name": "protein FAM219B isoform a", "refseq_ac": [ { "id": "NP_001308849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308849", "type": "external" } ], "gene_names_uniprotkb": "FAM219B; C15orf17", "gene_names_refseq": "C15orf17; FAM219B", "protein_names_uniprotkb": "Protein FAM219B", "protein_names_refseq": "protein FAM219B isoform a; protein FAM219B; uncharacterized protein C15orf17", "tax_id": 9606, "disease": "", "pathway": " (hsa:57184)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11214971;11237011;18669648;19651622;23186163;25880248;28411811;28904123;29557506;30379171;30524438;31844290;32157095;32357974;32488085;32938616;32983136;33298915;33592498;33981976;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "A8K4Q5;B4DK57;Q9NXY0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q5XKK7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96ST3-1", "uniprot_id": [ { "id": "SIN3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96ST3", "type": "external" } ], "mass": 145175.0, "length": 1273, "protein_name": "Paired amphipathic helix protein Sin3a", "gene_name": "SIN3A", "organism": "Human", "refseq_name": "paired amphipathic helix protein Sin3a", "refseq_ac": [ { "id": "NP_001138829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138829", "type": "external" } ], "gene_names_uniprotkb": "SIN3A", "gene_names_refseq": "CHR15DELq24; DEL15Q24; SIN3A; WITKOS", "protein_names_uniprotkb": "Paired amphipathic helix protein Sin3a; Histone deacetylase complex subunit Sin3a; Transcriptional corepressor Sin3a", "protein_names_refseq": "SIN3 homolog A, transcription regulator; histone deacetylase complex subunit Sin3a; paired amphipathic helix protein Sin3a; transcriptional co-repressor Sin3A; transcriptional corepressor Sin3a; transcriptional regulator, SIN3A", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); chromosome 15q24 deletion syndrome (Disease Ontology:DOID:0060395); Huntington's disease (Disease Ontology:DOID:12858); cancer (Disease Ontology:DOID:162); transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:25942); (R-HSA-3899300); (R-HSA-400206); (R-HSA-427413); (R-HSA-8936459); (R-HSA-9022538); (R-HSA-9022692); (R-HSA-9022699); (R-HSA-9022702); (R-HSA-9615017); (R-HSA-9701898); (R-HSA-9707564); (R-HSA-9824594); (R-HSA-9825892); (R-HSA-983231)", "pathway_count": 15, "publication_count": 325, "publication_id_list": "10102273;10217147;10358014;10471499;10480625;10494028;10529898;10617663;10770922;10913147;11042108;11062261;11062467;11226238;11237011;11242053;11259580;11330046;11477070;11744692;11751636;11779144;11779849;11842083;11895428;11897684;11950885;12032298;12134158;12150977;12150998;12239572;12427746;12483298;12529333;12576332;12670868;12679040;12718889;12724404;12969439;14525983;14593183;14593184;14610093;14744763;14980219;15020713;15247287;15322089;15345747;15451426;15507434;15653507;15710388;15766567;15958389;15976810;16054028;16098147;1630448;16476485;16503871;16568091;16628190;16757475;16783365;16820529;16840535;17007889;17027967;17046689;17079232;17081983;17081986;17196961;17264172;17298944;17306620;17322306;17355984;17369852;17535915;17803295;17942393;17963697;17994015;18082607;18211901;18288277;18292238;18316480;18327259;18339323;18452278;18488044;18669648;18691976;19088198;19114653;19225110;19240082;19289416;19293402;19331822;19413330;19415658;19509293;19596686;19608861;19615980;19651622;19664994;19664995;19690164;19690332;19691289;19729656;19820693;19838300;19968714;19995069;20058876;20068230;20068231;20098713;20112406;20166139;20176810;20339092;20360007;20530532;20627800;20676127;20876458;20929863;21102525;21129147;21252065;21338522;21406692;21490601;21527249;21536589;21715655;21725049;218813;21889235;22119903;22381047;22427940;22467880;22645359;22647378;22661428;22713328;22777353;23186163;23301498;23404503;23481700;23673342;23770565;23770587;24004669;24028821;24040102;24150225;24275569;24714562;24715725;25114211;25115512;25142731;25193384;25218447;25418920;25424712;25505266;25576301;25645385;25800734;25802875;25810538;25880248;25916849;26010396;26154972;26214522;26239616;26375851;26486273;26768311;26811146;26845023;26992070;27071062;2713875;27399968;27547294;27600516;27846572;27862975;27879258;27920218;28218747;28228285;28446606;28510447;28514659;28649982;28698372;28832583;28834231;28904123;29097600;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30001391;30059200;30267900;30315122;30429286;30524438;30692217;30779550;30804224;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;3409321;34171305;34185709;3427020;34509645;34561969;34725712;3475708;34846842;34932366;35008409;35051231;35132862;35254053;35318648;35406744;35561310;35580925;36010968;36215666;36228153;36241641;36284347;36399132;37217939;37748836;37938771;38665916;39302247;39531497;39534244;40596516;40914422;6094553;7597036;7987387;8343963;8386511;8662638;8816476;9065479;9150134;9171241;9230307;9326583;9331217;9422515;9537257;9620804;9710594;9806836;9836620;9927674", "class_list": "", "function": "Acts as a transcriptional repressor. Corepressor for REST. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Also interacts with MXD1-MAX heterodimers to repress transcription by tethering SIN3A to DNA. Acts cooperatively with OGT to repress transcription in parallel with histone deacetylation. Involved in the control of the circadian rhythms. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation. Cooperates with FOXK1 to regulate cell cycle progression probably by repressing cell cycle inhibitor genes expression (By similarity). Required for cortical neuron differentiation and callosal axon elongation (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Coordination of cross-talk between metabolism and epigenetic regulation by the SIN3 complex. Review article, [RefSeq, PubMed]; DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency., [RefSeq, PubMed]; MSin3A interacts with HDAC2 via the HDAC-interacting domain (HID) of mSin3A. GeneRIF: The transcriptional repressor mSin3A associates with histone deacetylase 1 forming a co-repressor complex. See also PMID (PubMed identifier) 9150133., [RefSeq, PubMed]; The Sin3A/MAD1 Complex, through Its PAH2 Domain, Acts as a Second Repressor of Retinoic Acid Receptor Beta Expression in Breast Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [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": 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": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B2RNS5;Q8N8N4;Q8NC83;Q8WV18;Q96L98;Q9UFQ1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0003714 transcription corepressor activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0017053 transcription repressor complex;GO:0000776 kinetochore", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 34.1, "record_id": "Q96ST3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49366-1", "uniprot_id": [ { "id": "DHYS_HUMAN", "url": "https://www.uniprot.org/uniprot/P49366", "type": "external" } ], "mass": 40971.0, "length": 369, "protein_name": "Deoxyhypusine synthase", "gene_name": "DHPS", "organism": "Human", "refseq_name": "deoxyhypusine synthase isoform d", "refseq_ac": [ { "id": "NP_001193903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193903", "type": "external" } ], "gene_names_uniprotkb": "DHPS; DS", "gene_names_refseq": "DHPS; DHS; DS; MIG13; NEDSSWI", "protein_names_uniprotkb": "Deoxyhypusine synthase; 2.5.1.46; DHS", "protein_names_refseq": "deoxyhypusine synthase isoform d; migration-inducing gene 13", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); cardiomyopathy (Disease Ontology:DOID:0050700); alcohol dependence (Disease Ontology:DOID:0050741); Zollinger-Ellison syndrome (Disease Ontology:DOID:0050782); stroke (Disease Ontology:DOID:0051061); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); gastroschisis (Disease Ontology:DOID:11044); prostatic hypertrophy (Disease Ontology:DOID:11132); cryptorchidism (Disease Ontology:DOID:11383); osteoporosis (Disease Ontology:DOID:11476); portal vein thrombosis (Disease Ontology:DOID:11695); gestational diabetes (Disease Ontology:DOID:11714); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Lewy body dementia (Disease Ontology:DOID:12217); Graves' disease (Disease Ontology:DOID:12361); dementia (Disease Ontology:DOID:1307); alcoholic neuropathy (Disease Ontology:DOID:14183); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); pancreatic cancer (Disease Ontology:DOID:1793); nephroblastoma (Disease Ontology:DOID:2154); prostate adenocarcinoma (Disease Ontology:DOID:2526); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); high grade glioma (Disease Ontology:DOID:3070); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); toxic encephalopathy (Disease Ontology:DOID:3602); glucose metabolism disease (Disease Ontology:DOID:4194); coronary stenosis (Disease Ontology:DOID:4248); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); liver cirrhosis (Disease Ontology:DOID:5082); sleep disorder (Disease Ontology:DOID:535); gastrinoma (Disease Ontology:DOID:5577); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); neuroblastoma (Disease Ontology:DOID:769); hyperthyroidism (Disease Ontology:DOID:7998); osteoarthritis (Disease Ontology:DOID:8398); ulcerative colitis (Disease Ontology:DOID:8577); vascular dementia (Disease Ontology:DOID:8725); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); vesicoureteral reflux (Disease Ontology:DOID:9620); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970); neurodevelopmental disorder with seizures and speech and walking impairment (MONDO:MONDO:0032775)", "pathway": " (hsa:1725); (R-HSA-204626)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "11237011;11311149;12788913;14622290;15100216;16452303;16533814;17213197;17525332;18077418;20068231;22898188;23481700;24714562;25505266;25576301;25645385;25892735;26154972;26375851;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30524438;30661771;30779550;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;32989218;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34932366;34947982;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36973244;37333770;37925109;37938771;40914422;7673224;7750572;8549832;8615810;9188485;9405486;9493264;9666110", "class_list": "", "function": "Catalyzes the NAD-dependent oxidative cleavage of spermidine and the subsequent transfer of the butylamine moiety of spermidine to the epsilon-amino group of a critical lysine residue of the eIF-5A precursor protein to form the intermediate deoxyhypusine residue (PubMed:30661771). This is the first step of the post-translational modification of that lysine into an unusual amino acid residue named hypusine. Hypusination is unique to mature eIF-5A factor and is essential for its function., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Clinical significance of mutations in dihydropteroate synthase in Pneumocystis jirovecii pneumonia among non-HIV-infected patients., [RefSeq, PubMed]; Cryo-EM structure of human eIF5A-DHS complex reveals the molecular basis of hypusination-associated neurodegenerative disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; EIF5A-Independent Role of DHPS in p21(CIP1) and Cell Fate Regulation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 55, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K688;M0R1I5;Q13184;Q13276;Q9UDG0", "ec_number_list": [ { "id": "2.5.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.46", "type": "external" } ], "go_molecular_function": "GO:0034038 deoxyhypusine synthase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0008216 spermidine metabolic process;GO:0046203 spermidine catabolic process;GO:0008284 positive regulation of cell population proliferation;GO:0006412 translation;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P49366-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MIW9-1", "uniprot_id": [ { "id": "MUCL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MIW9", "type": "external" } ], "mass": 56347.0, "length": 517, "protein_name": "Mucin-like protein 3", "gene_name": "MUCL3", "organism": "Human", "refseq_name": "mucin-like protein 3 precursor", "refseq_ac": [ { "id": "NP_543146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543146", "type": "external" } ], "gene_names_uniprotkb": "MUCL3; C6orf37; DPCR1; PBLT", "gene_names_refseq": "C6orf37; DPCR1; MUCL3; PBLT", "protein_names_uniprotkb": "Mucin-like protein 3; Diffuse panbronchiolitis critical region protein 1", "protein_names_refseq": "diffuse panbronchiolitis critical region 1; diffuse panbronchiolitis critical region protein 1; mucin-like protein 3 precursor; mucin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:135656)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12185533;16702430;19851445;22152429;24715725;28218747;29242154;29437277;29557506;33392160", "class_list": "", "function": "C6orf37OS (C6orf37 Opposite Strand). Unexpectedly, RT-PCR analysis detected transcripts from the anti-sense DNA strand of this C6orf37 locus in numerous tissues, with most-abundant expression in lung, kidney, and testis., [RefSeq, PubMed]; In addition, the results of RNA deep sequencing and qRT-PCR assay showed that DPCR1 participated in PADC progression by regulating nuclear factor-kappa B signaling pathway, suggesting that it might be a novel oncogene in tumor progression and a potential therapeutic target in PDAC as well., [RefSeq, PubMed]; May modulate NF-kappaB signaling and play a role in cell growth., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results show that polymorphisms in DPCR1 are not associated with the risk of aspirin-exacerbated respiratory disease in Korean asthmatics, [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": 9753, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "C9IZC0;Q658M7;Q8WYN2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q3MIW9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03468-1", "uniprot_id": [ { "id": "ERCC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03468", "type": "external" } ], "mass": 168416.0, "length": 1493, "protein_name": "DNA excision repair protein ERCC-6", "gene_name": "ERCC6", "organism": "Human", "refseq_name": "DNA excision repair protein ERCC-6 isoform 2", "refseq_ac": [ { "id": "NP_000115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000115", "type": "external" } ], "gene_names_uniprotkb": "ERCC6; CSB", "gene_names_refseq": "ARMD5; CKN2; COFS1; COFS; CSB-PGBD3; CSB; ERCC6; POF11; RAD26; UVSS1", "protein_names_uniprotkb": "DNA excision repair protein ERCC-6; 3.6.4.-; ATP-dependent helicase ERCC6; Cockayne syndrome protein CSB", "protein_names_refseq": "ATP-dependent helicase ERCC6; Chimeric CSB-PGBD3 protein; Chimeric ERCC6-PGBD3 protein; Cockayne syndrome group B protein; DNA excision repair protein ERCC-6 isoform 2; DNA excision repair protein ERCC-6; ERCC6-PGBD3 fusion protein; cockayne syndrome protein CSB; excision repair cross-complementation group 6; excision repair cross-complementing rodent repair deficiency, complementation group 6", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); colorectal adenoma (Disease Ontology:DOID:0050860); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); UV-sensitive syndrome (Disease Ontology:DOID:0060240); colorectal carcinoma (Disease Ontology:DOID:0080199); cerebral cavernous malformation 1 (Disease Ontology:DOID:0080491); primary ovarian insufficiency 11 (Disease Ontology:DOID:0080868); Cockayne syndrome B (Disease Ontology:DOID:0080908); cerebrooculofacioskeletal syndrome (Disease Ontology:DOID:0080910); cerebrooculofacioskeletal syndrome 1 (Disease Ontology:DOID:0080911); age related macular degeneration 5 (Disease Ontology:DOID:0110028); De Sanctis-Cacchione syndrome (Disease Ontology:DOID:0112158); stomach cancer (Disease Ontology:DOID:10534); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); carotid stenosis (Disease Ontology:DOID:13001); lung cancer (Disease Ontology:DOID:1324); patent ductus arteriosus (Disease Ontology:DOID:13832); polyneuropathy due to drug (Disease Ontology:DOID:14184); Parkinson's disease (Disease Ontology:DOID:14330); primary pulmonary hypertension (Disease Ontology:DOID:14557); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); larynx cancer (Disease Ontology:DOID:2596); Cockayne syndrome (Disease Ontology:DOID:2962); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); macular degeneration (Disease Ontology:DOID:4448); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); colorectal cancer (Disease Ontology:DOID:9256); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2074); (R-HSA-427389); (R-HSA-5250924); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-73762)", "pathway_count": 8, "publication_count": 149, "publication_id_list": "10082553;10447254;10739753;10767341;10913176;10944529;11237011;11250901;11904382;12208738;12393749;12419226;12660172;12732143;1339317;14517266;1547496;15486090;15548521;15558034;15590680;16128801;16186106;16246722;16514417;16565220;16603771;16751180;16754848;16916636;16959974;16964243;17000769;17081983;17290000;17318177;17466625;17466626;17525332;17626041;17728339;17924679;17948053;17981804;18079701;18369450;18438403;18452278;18614043;18656484;18669648;18691976;18987736;19007248;19279666;19413330;19415658;19691289;19894250;19940136;20068231;20227374;20541997;21070792;21282463;21406692;21559432;22081108;22118460;22466610;22466611;22466612;22483866;22684280;22902626;23186163;23481700;23555303;23667505;23906714;23973375;24127601;24402227;24715725;24874740;24901984;24952918;25154395;25435140;25576301;25820262;26030138;26218421;26620705;26992070;27418187;27418309;27791261;27920218;2805069;28218747;28228285;28292928;28514659;28832583;29203878;29242379;29393594;29493099;29545921;29557506;29632046;30379171;30429286;30484775;30524438;31844290;32142649;32157095;32355176;32387766;32502341;32938616;33298915;33936100;33968037;33981976;34509645;34526721;35051231;35561310;35580925;36010968;37938771;38316879;38600235;38600236;7491500;7700386;7801123;8078911;8382798;8876179;9326587;9443879;9565609;9699634;9716411;9875289", "class_list": "", "function": "A domesticated PiggyBac-like transposon PGBD3, residing within intron 5 of the CSB gene, functions as an alternative 3' terminal exon Publication Status: Online-Only, [RefSeq, PubMed]; Essential factor involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:16246722, PubMed:20541997, PubMed:22483866, PubMed:26620705, PubMed:32355176, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Plays a central role in the initiation of the TC-NER process: specifically recognizes and binds RNA polymerase II stalled at a lesion, and mediates recruitment of ERCC8/CSA, initiating DNA damage excision by TFIIH recruitment (PubMed:32355176, PubMed:34526721, PubMed:38600235, PubMed:38600236). Upon DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the interface between stalled RNA polymerase II and DNA (PubMed:15548521). Acts as a chromatin remodeler at DSBs; DNA-dependent ATPase-dependent activity is essential for this function (PubMed:16246722, PubMed:9565609). Plays an important role in regulating the choice of the DNA double-strand breaks (DSBs) repair pathway and G2/M checkpoint activation; DNA-dependent ATPase activity is essential for this function (PubMed:25820262). Regulates the DNA repair pathway choice by inhibiting non-homologous end joining (NHEJ), thereby promoting the homologous recombination (HR)-mediated repair of DSBs during the S/G2 phases of the cell cycle (PubMed:25820262). Mediates the activation of the ATM- and CHEK2-dependent DNA damage responses thus preventing premature entry of cells into mitosis following the induction of DNA DSBs (PubMed:25820262). Remodels chromatin by evicting histones from chromatin flanking DSBs, limiting RIF1 accumulation at DSBs thereby promoting BRCA1-mediated HR (PubMed:29203878). Required for stable recruitment of ELOA and CUL5 to DNA damage sites (PubMed:28292928). Also involved in UV-induced translocation of ERCC8 to the nuclear matrix (PubMed:26620705). Essential for neuronal differentiation and neuritogenesis; regulates transcription and chromatin remodeling activities required during neurogenesis (PubMed:24874740)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF., [UniProtKB, PubMed]; This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]., [RefSeq]; Transcription-coupled DNA-protein crosslink repair by CSB and CRL4[CSA]-mediated degradation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 38, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DX94;E7EV46;Q5W0L9", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0030296 protein tyrosine kinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0008023 transcription elongation factor complex;GO:0016604 nuclear body", "go_biological_process": "GO:0097680 double-strand break repair via classical nonhomologous end joining;GO:0034243 regulation of transcription elongation by RNA polymerase II;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q03468-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PD7-1", "uniprot_id": [ { "id": "DGAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PD7", "type": "external" } ], "mass": 43831.0, "length": 388, "protein_name": "Diacylglycerol O-acyltransferase 2", "gene_name": "DGAT2", "organism": "Human", "refseq_name": "diacylglycerol O-acyltransferase 2 isoform 2", "refseq_ac": [ { "id": "NP_001240820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240820", "type": "external" } ], "gene_names_uniprotkb": "DGAT2; HMFN1045; PRO1433", "gene_names_refseq": "ARAT; DGAT2; GS1999FULL; HMFN1045", "protein_names_uniprotkb": "Diacylglycerol O-acyltransferase 2; 2.3.1.20; 2.3.1.76; ARAT; Acyl-CoA retinol O-fatty-acyltransferase; Diglyceride acyltransferase 2; Retinol O-fatty-acyltransferase", "protein_names_refseq": "acyl-CoA retinol O-fatty-acyltransferase; diacylglycerol O-acyltransferase 2 isoform 2; diacylglycerol O-acyltransferase homolog 2; diacylglycerol O-acyltransferase-like protein 2; diglyceride acyltransferase 2", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); chronic kidney disease (Disease Ontology:DOID:784); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:84649); (R-HSA-1482883); (R-HSA-75109); (R-HSA-9841922)", "pathway_count": 4, "publication_count": 101, "publication_id_list": "10425206;10558993;10835357;10882139;11027271;11237011;11481335;11672446;12618427;12824082;12829629;12975309;1310260;14521909;14970677;15221005;15272052;15364929;15671038;15845384;16106050;16214399;16380219;17158099;17761950;18238778;18452279;18694939;18718904;18768481;19043829;19172745;19336658;19615748;19957260;19962385;20034933;20643956;21068004;23481700;24714562;25418920;25576301;25838202;26154972;26728094;26786738;26811146;26992070;27184406;27846572;27920218;28063628;28228285;28420705;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29508533;29557506;29632046;29786170;30315122;30410026;30429286;30970241;31092671;31154438;31530632;31844290;31998317;32357974;32387766;32897882;32938616;32983136;33298915;33329381;33592498;33691108;33717175;33912179;33968037;34357683;35051231;35232775;37074911;37516308;37779421;38500157;38616316;8521497;8521498;9065481;9171241;9744270;9756920", "class_list": "", "function": "DGAT2 Inhibition Potentiates Lipid Droplet Formation To Reduce Cytotoxicity in APOL1 Kidney Risk Variants., [RefSeq, PubMed]; DGAT2 expression is decreased in psoriatic skin., [RefSeq, PubMed]; Diurnal expression of Dgat2 induced by time-restricted feeding maintains cardiac health in the Drosophila model of circadian disruption., [RefSeq, PubMed]; Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides (PubMed:27184406). Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Also functions as an acyl-CoA retinol acyltransferase (ARAT) (By similarity). Also able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG) (PubMed:28420705)., [UniProtKB, UniProtKB, PubMed, PubMed]; Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes., [RefSeq, PubMed]; The role of DGAT1 and DGAT2 in regulating tumor cell growth and their potential clinical implications. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background., [RefSeq, PubMed]; This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 8, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 6, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6ND76;Q5U810;Q68CL3;Q68DJ0;Q8NDB7;Q96BS0;Q9BYE5", "ec_number_list": [ { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.22", "type": "external" }, { "id": "2.3.1.75", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.75", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0004144 diacylglycerol O-acyltransferase activity;GO:0003846 2-acylglycerol O-acyltransferase activity;GO:0050252 retinol O-fatty-acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0071400 cellular response to oleic acid;GO:0046339 diacylglycerol metabolic process;GO:0097006 regulation of plasma lipoprotein particle levels;GO:0007584 response to nutrient;GO:0046322 negative regulation of fatty acid oxidation", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q96PD7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NT32-1", "uniprot_id": [ { "id": "EST5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NT32", "type": "external" } ], "mass": 63926.0, "length": 575, "protein_name": "Carboxylesterase 5A", "gene_name": "CES5A", "organism": "Human", "refseq_name": "carboxylesterase 5A isoform 1 precursor", "refseq_ac": [ { "id": "NP_001137157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137157", "type": "external" } ], "gene_names_uniprotkb": "CES5A; CES7", "gene_names_refseq": "CAUXIN; CES4C1; CES5A; CES5; CES7; HEL126", "protein_names_uniprotkb": "Carboxylesterase 5A; 3.1.1.1; Carboxylesterase-like urinary excreted protein homolog; Cauxin", "protein_names_refseq": "carboxylesterase 5A isoform 1 precursor; carboxylesterase 5; carboxylesterase 7; carboxylesterase-like urinary excreted protein homolog; epididymis luminal protein 126", "tax_id": 9606, "disease": "", "pathway": " (hsa:221223)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;28228285;29557506;30524438;35051231", "class_list": "glycogene", "function": "Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs., [UniProtKB]; This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [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": 799, "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": "B7Z252;B7ZLB6;Q8NBC8;Q96DN9", "ec_number_list": [ { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.84", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0106435 carboxylesterase activity;GO:0052689 carboxylic ester hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6NT32-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RUS2-1", "uniprot_id": [ { "id": "DEND3_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RUS2", "type": "external" } ], "mass": 135890.0, "length": 1198, "protein_name": "DENN domain-containing protein 3", "gene_name": "DENND3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DENND3; KIAA0870", "gene_names_refseq": "", "protein_names_uniprotkb": "DENN domain-containing protein 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:22898); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 242, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;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;23839779;24296415;24397554;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25576301;25648148;25713415;25880248;25892735;25925668;26055712;26154972;26177209;26245486;26375851;26434594;26538022;26811146;26925400;26929215;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28904123;29242379;29351928;29393594;29437277;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30524438;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33633747;33717175;33912179;33968037;33981976;34185709;34509645;34932366;35051231;35561310;35580925;36284347;37938771;38253038;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form (PubMed:20937701). Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the degradation of the transferrin receptor and of the amino acid transporter PAT4 (PubMed:20937701). Starvation also induces phosphorylation at Tyr-858, which leads to up-regulated GEF activity and initiates autophagy (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7ZM28;O94947;Q2TAM7;Q6ZMS6;Q96DK3", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0031410 cytoplasmic vesicle;GO:0005737 cytoplasm", "go_biological_process": "GO:0032483 regulation of Rab protein signal transduction;GO:0008333 endosome to lysosome transport;GO:0030163 protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 24.7, "record_id": "A2RUS2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00429-1", "uniprot_id": [ { "id": "DNM1L_HUMAN", "url": "https://www.uniprot.org/uniprot/O00429", "type": "external" } ], "mass": 81877.0, "length": 736, "protein_name": "Dynamin-1-like protein", "gene_name": "DNM1L", "organism": "Human", "refseq_name": "dynamin-1-like protein isoform 4", "refseq_ac": [ { "id": "NP_001265392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265392", "type": "external" } ], "gene_names_uniprotkb": "DNM1L; DLP1; DRP1", "gene_names_refseq": "DLP1; DNM1L; DRP1; DVLP; DYMPLE; EMPF1; EMPF; HDYNIV; OPA5", "protein_names_uniprotkb": "Dynamin-1-like protein; 3.6.5.5; DVLP; Dnm1p/Vps1p-like protein; Dymple; Dynamin family member proline-rich carboxyl-terminal domain less; Dynamin-like protein 4; Dynamin-like protein IV; Dynamin-like protein; Dynamin-related protein 1; HdynIV", "protein_names_refseq": "Dnm1p/Vps1p-like protein; dynamin family member proline-rich carboxyl-terminal domain less; dynamin-1-like protein isoform 4; dynamin-like protein 4; dynamin-like protein IV; dynamin-related protein 1", "tax_id": 9606, "disease": "encephalopathy due to defective mitochondrial and peroxisomal fission 1 (Disease Ontology:DOID:0070347); optic atrophy 5 (Disease Ontology:DOID:0111438); Alzheimer's disease (Disease Ontology:DOID:10652); dilated cardiomyopathy (Disease Ontology:DOID:12930); dental fluorosis (Disease Ontology:DOID:13711); Parkinson's disease (Disease Ontology:DOID:14330); pulmonary fibrosis (Disease Ontology:DOID:3770); chronic kidney disease (Disease Ontology:DOID:784); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:10059); (R-HSA-75153)", "pathway_count": 2, "publication_count": 245, "publication_id_list": "10749171;11237011;11514614;12107159;12499366;12618434;12668660;15208300;15254227;16874301;16936636;17015472;17301055;17322306;17460227;17553808;17606867;17924679;18088087;18512783;18669648;18695047;18767875;18838687;19342591;19407830;19411255;19413330;19638400;19651622;19664995;19690332;20068231;20463395;20688057;21406692;21478857;21508961;21701560;21822277;22100972;22223895;22265414;22326220;22511751;22745122;23186163;23283981;23334860;23524851;23530241;23584531;23783831;23792636;23792689;23813973;23921378;23977156;23979843;24177748;24196833;24275569;24714562;24733894;24947026;25576301;25595902;25645385;25658204;25658205;25730670;25880248;25993908;26057632;26122121;26154972;26306039;26375851;26432782;26438559;26598294;26604000;26992070;26992161;27090790;27091447;27145208;27145933;27242436;27301544;27328748;27600516;27739424;27831567;27837193;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28904123;28969390;28981113;29022905;29072687;29217195;29242379;29262528;29314611;29331515;29351928;29393594;29437277;29444369;29459657;29463805;29478834;29493099;29508533;29520173;29531805;29557506;29620184;29622847;29632046;29632711;29654945;29786170;29789417;29899447;29981473;30158524;30209302;30258050;30315122;30429286;30444033;30471409;30573663;30779550;30833945;31019453;31154438;31217245;31222486;31308800;31324254;31363041;31387295;31530632;31533986;31551926;31746366;31756635;31789589;31844290;31848261;31994339;32075676;32155766;32157095;32232156;32346136;32350084;32351292;32357974;32387766;32398681;32433544;32439975;32484300;32488085;32502341;32661251;32767829;32848130;32863218;32938616;32983136;33087694;33123756;33141586;33236140;33298915;33302576;33392160;33416159;33495511;33592498;33691108;33723235;33802063;33805672;33807275;33850055;33912179;33924585;33936100;33968037;33971394;33981976;34019948;34171305;34357683;34475379;34509645;34725712;34764359;34932366;35051231;35122996;35154160;35251023;35523103;35580925;35670111;35686673;35952901;35998797;36010968;36078152;36215666;36241641;36284347;37217939;37938771;38665916;38760979;38763184;38763207;39238005;39531497;40596516;40914422;9348079;9422767;9472031;9570752;9731200;9786947;9915810", "class_list": "", "function": "Functions in mitochondrial and peroxisomal division (PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17460227, PubMed:17553808, PubMed:18695047, PubMed:18838687, PubMed:19342591, PubMed:19411255, PubMed:19638400, PubMed:23283981, PubMed:23530241, PubMed:23921378, PubMed:26992161, PubMed:27145208, PubMed:27145933, PubMed:27301544, PubMed:27328748, PubMed:29478834, PubMed:32439975, PubMed:32484300, PubMed:9570752, PubMed:9786947). Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism (PubMed:23530241, PubMed:23584531, PubMed:33850055). The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:23283981, PubMed:23921378, PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Acts downstream of PINK1 to promote mitochondrial fission in a PRKN-dependent manner (PubMed:32484300). Plays an important role in mitochondrial fission during mitosis (PubMed:19411255, PubMed:26992161, PubMed:27301544, PubMed:27328748). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage (By similarity). Required for normal brain development, including that of cerebellum (PubMed:17460227, PubMed:26992161, PubMed:27145208, PubMed:27301544, PubMed:27328748). Facilitates developmentally regulated apoptosis during neural tube formation (By similarity). Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues (By similarity). Required for formation of endocytic vesicles (PubMed:20688057, PubMed:23792689, PubMed:9570752). Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles (PubMed:17015472, PubMed:23792689). Required for programmed necrosis execution (PubMed:22265414). Rhythmic control of its activity following phosphorylation at Ser-637 is essential for the circadian control of mitochondrial ATP production (PubMed:29478834)., [UniProtKB, 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]; Inhibits peroxisomal division when overexpressed., [UniProtKB, PubMed]; MCU inhibition protects against intestinal ischemia-reperfusion by inhibiting Drp1-dependent mitochondrial fission., [RefSeq, PubMed]; Multifaceted role of dynamin-related protein 1 in cardiovascular disease: From mitochondrial fission to therapeutic interventions. Review article, [RefSeq, PubMed]; Serine 39 in the GTP-binding domain of Drp1 is involved in shaping mitochondrial morphology., [RefSeq, PubMed]; This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]., [RefSeq]; Young small extracellular vesicles rejuvenate replicative senescence by remodeling Drp1 translocation-mediated mitochondrial dynamics. 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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 40, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K4X9;B4DGC9;B4DSU8;G8JLD5;J3KPI2;O14541;O60709;Q59GN9;Q7L6B3;Q8TBT7;Q9BWM1;Q9Y5J2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005525 GTP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005777 peroxisome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0070585 protein localization to mitochondrion;GO:0090149 mitochondrial membrane fission;GO:1900063 regulation of peroxisome organization;GO:0006897 endocytosis;GO:0016559 peroxisome fission", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "O00429-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60762-1", "uniprot_id": [ { "id": "DPM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60762", "type": "external" } ], "mass": 29634.0, "length": 260, "protein_name": "Dolichol-phosphate mannosyltransferase subunit 1", "gene_name": "DPM1", "organism": "Human", "refseq_name": "dolichol-phosphate mannosyltransferase subunit 1 isoform 1", "refseq_ac": [ { "id": "NP_001303963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303963", "type": "external" } ], "gene_names_uniprotkb": "DPM1", "gene_names_refseq": "CDGIE; DPM1; MPDS", "protein_names_uniprotkb": "Dolichol-phosphate mannosyltransferase subunit 1; 2.4.1.83; DPM synthase subunit 1; Dolichol-phosphate mannose synthase subunit 1; Dolichyl-phosphate beta-D-mannosyltransferase subunit 1; MPD synthase subunit 1; Mannose-P-dolichol synthase subunit 1", "protein_names_refseq": "DPM synthase complex, catalytic subunit; DPM synthase subunit 1; MPD synthase subunit 1; dolichol monophosphate mannose synthase; dolichol-phosphate mannose synthase subunit 1; dolichol-phosphate mannosyltransferase subunit 1 isoform 1; dolichyl-phosphate beta-D-mannosyltransferase subunit 1; dolichyl-phosphate mannosyltransferase polypeptide 1 catalytic subunit; mannose-P-dolichol synthase subunit 1", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation Ie (Disease Ontology:DOID:0080557)", "pathway": " (hsa:8813); (R-HSA-162699); (R-HSA-4717374); (R-HSA-4719360); (R-HSA-4719377); (R-HSA-9918432)", "pathway_count": 6, "publication_count": 86, "publication_id_list": "10228156;10642597;10642602;10835346;11237011;15669674;16280320;17081983;18578522;18691976;19007248;19576565;19651622;19691289;20068231;21406692;22645359;23109149;23186163;23856421;24714562;24715725;25418920;25576301;25892735;26024233;26154972;26208004;26992070;27383988;27452731;27600516;27846572;27920218;28218747;28228285;28228593;28510447;28832583;28834231;29242379;29314611;29331515;29437277;29493099;29508533;29557506;29632711;29769354;29789417;30410026;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32502341;33141586;33298915;33633747;33717175;33936100;33968037;33981976;34171305;34211107;34561969;34932366;35051231;35215835;36241641;36581221;37938771;38477878;38665916;38793607;39894887;40914422;9223280;9535917;9724629", "class_list": "glycogene;glycosyltransferase", "function": "DPM1 modulates desmosomal adhesion and epidermal differentiation through SERPINB5., [RefSeq, PubMed]; Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]., [RefSeq]; Transfers mannose from GDP-mannose to dolichol monophosphate to form dolichol phosphate mannose (Dol-P-Man) which is the mannosyl donor in pathways leading to N-glycosylation, glycosyl phosphatidylinositol membrane anchoring, and O-mannosylation of proteins; catalytic subunit of the dolichol-phosphate mannose (DPM) synthase complex., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 366, "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": "O15157;Q6IB78;Q96HK0", "ec_number_list": [ { "id": "2.4.1.83", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.83", "type": "external" }, { "id": "2.4.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.18", "type": "external" } ], "go_molecular_function": "GO:0004582 dolichyl-phosphate beta-D-mannosyltransferase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0033185 dolichol-phosphate-mannose synthase complex;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0035269 protein O-linked glycosylation via mannose;GO:0043048 dolichyl monophosphate biosynthetic process;GO:0006506 GPI anchor biosynthetic process;GO:0180047 dolichol phosphate mannose biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O60762-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09019-1", "uniprot_id": [ { "id": "DMWD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09019", "type": "external" } ], "mass": 70438.0, "length": 674, "protein_name": "Dystrophia myotonica WD repeat-containing protein", "gene_name": "DMWD", "organism": "Human", "refseq_name": "dystrophia myotonica WD repeat-containing protein", "refseq_ac": [ { "id": "NP_004934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004934", "type": "external" } ], "gene_names_uniprotkb": "DMWD; DM9", "gene_names_refseq": "D19S593E; DMR-N9; DMRN9; DMWD; gene59", "protein_names_uniprotkb": "Dystrophia myotonica WD repeat-containing protein; Dystrophia myotonica-containing WD repeat motif protein; Protein 59; Protein DMR-N9", "protein_names_refseq": "dystrophia myotonica WD repeat-containing protein; dystrophia myotonica, WD repeat containing; dystrophia myotonica-containing WD repeat motif protein; protein 59", "tax_id": 9606, "disease": "isovaleric acidemia (Disease Ontology:DOID:14753); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:1762)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;15302935;18452278;23186163;24714562;24715725;26992070;28832583;28904123;29242379;29493099;29557506;29786170;30379171;30484775;31217245;31844290;31998317;32157095;32387766;32938616;33298915;33592498;33717175;33844468;33912179;33968037;34087483;34171305;34405274;35051231;35154160;35561310;35580925;36010968;37938771;7905855;8499920", "class_list": "", "function": "Regulator of the deubiquitinating USP12/DMWD/WDR48 complex (PubMed:33844468). Functions as a cofactor that promotes USP12 enzymatic activity (PubMed:33844468)., [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": 4, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0035800 deubiquitinase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q09019-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02535-1", "uniprot_id": [ { "id": "ID3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02535", "type": "external" } ], "mass": 12999.0, "length": 119, "protein_name": "DNA-binding protein inhibitor ID-3", "gene_name": "ID3", "organism": "Human", "refseq_name": "DNA-binding protein inhibitor ID-3", "refseq_ac": [ { "id": "NP_002158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002158", "type": "external" } ], "gene_names_uniprotkb": "ID3; 1R21; BHLHB25; HEIR1", "gene_names_refseq": "HEIR-1; ID3; bHLHb25", "protein_names_uniprotkb": "DNA-binding protein inhibitor ID-3; Class B basic helix-loop-helix protein 25; Helix-loop-helix protein HEIR-1; ID-like protein inhibitor HLH 1R21; Inhibitor of DNA binding 3; Inhibitor of differentiation 3; bHLHb25", "protein_names_refseq": "DNA-binding protein inhibitor ID-3; ID-like protein inhibitor HLH 1R21; class B basic helix-loop-helix protein 25; helix-loop-helix protein HEIR-1; inhibitor of DNA binding 3, HLH protein; inhibitor of DNA binding 3, dominant negative helix-loop-helix protein; inhibitor of differentiation 3", "tax_id": 9606, "disease": "Sjogren's syndrome (Disease Ontology:DOID:12894)", "pathway": " (hsa:3399); (R-HSA-9031628)", "pathway_count": 2, "publication_count": 184, "publication_id_list": "10203854;10381005;10611221;10611312;10656257;10734128;10826704;10872467;10882540;10984481;11018254;11027551;11280768;11331872;11343657;11567222;11755530;11840323;11956230;12399542;12511643;1377233;14522948;14597720;14969744;15102911;15161978;15449318;15542842;15620361;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;1628620;16287845;16339507;16407550;16484497;16574654;16732277;17088210;17088211;17088212;17322306;17632064;17898216;18056528;18088355;18160048;1833716;18456662;18524893;1861162;19061646;19116276;19193899;19194657;19926875;2017159;2040600;20506119;2052361;2072895;20861012;21057636;2109185;21326363;21486943;21621608;22053691;22065583;22302795;2237820;23481700;23783831;24060757;25090023;25248477;25569790;25576301;25748042;25880248;26018600;2676516;27041596;27128622;27220739;27846572;27920218;28076410;28218747;28228285;28275114;28286024;28832583;28904123;29026069;29242379;29437277;29557506;29559111;29632711;30315122;30410026;30429286;30524438;31154438;3127059;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32897882;32938616;33109704;33141586;33537174;33592498;33912179;33936100;33968037;33981976;34171305;34211107;35051231;35580925;36010968;36215666;36241641;36284347;3672127;36963488;37871574;37938771;38112574;38244313;38326607;38513475;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7828896;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8437843;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9084409;9343422;9372912;9390517;9418898;9622090;9722618;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "ALDOA coordinates PDE3A through the beta-catenin/ID3 axis to stimulate cancer metastasis and M2 polarization in lung cancer with EGFR mutations., [RefSeq, PubMed]; ID3 is a novel target gene of p53 and modulates lung cancer cell metastasis., [RefSeq, PubMed]; Investigating the ID3/SLC22A4 as immune-related signatures in ischemic stroke., [RefSeq, PubMed]; The nuclear factor ID3 endows macrophages with a potent anti-tumour activity., [RefSeq, PubMed]; The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]., [RefSeq]; Tissue-infiltrating alloreactive T cells require Id3 to deflect PD-1-mediated immune suppression during GVHD., [RefSeq, PubMed]; Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation. Inhibits the binding of E2A-containing protein complexes to muscle creatine kinase E-box enhancer. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer., [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": 6, "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": "A8K1T8;O75641", "ec_number_list": [], "go_molecular_function": "GO:1901707 leptomycin B binding;GO:0019904 protein domain specific binding;GO:0046983 protein dimerization activity;GO:0003714 transcription corepressor activity;GO:0043425 bHLH transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010628 positive regulation of gene expression;GO:0043065 positive regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q02535-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD43-1", "uniprot_id": [ { "id": "PTPRH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD43", "type": "external" } ], "mass": 122353.0, "length": 1115, "protein_name": "Receptor-type tyrosine-protein phosphatase H", "gene_name": "PTPRH", "organism": "Human", "refseq_name": "receptor-type tyrosine-protein phosphatase H isoform 2 precursor", "refseq_ac": [ { "id": "NP_001154912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154912", "type": "external" } ], "gene_names_uniprotkb": "PTPRH; SAP1", "gene_names_refseq": "PTPRH; R-PTP-H; SAP1", "protein_names_uniprotkb": "Receptor-type tyrosine-protein phosphatase H; 3.1.3.48; R-PTP-H; SAP-1; Stomach cancer-associated protein tyrosine phosphatase 1; Transmembrane-type protein-tyrosine phosphatase type H", "protein_names_refseq": "receptor-type tyrosine-protein phosphatase H isoform 2 precursor; receptor-type tyrosine-protein phosphatase H; stomach cancer-associated protein tyrosine phosphatase 1; transmembrane-type protein-tyrosine phosphatase type H", "tax_id": 9606, "disease": "", "pathway": " (hsa:5794)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11278335;11435690;12101188;12837766;12879010;15850787;32938616;34367321;35051231;35494241;35787553;36054194;37074911;37974250;8294459", "class_list": "", "function": "Crystal structure of the catalytic domain of human RPTPH., [RefSeq, PubMed]; Elevated phosphorylation of EGFR in NSCLC due to mutations in PTPRH. Publication Status: Online-Only, [RefSeq, PubMed]; PTPRH promotes the progression of non-small cell lung cancer via glycolysis mediated by the PI3K/AKT/mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Protein phosphatase that may contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes. Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of BCAR1, focal adhesion kinase and SRC. Reduces migratory activity of activity of Jurkat cells. Reduces tyrosine phosphorylation of CEACAM20 and thereby contributes to suppress the intestinal immune response CEACAM20 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; SAP-1 expression is downregulated during the dedifferentiation of human hepatocellular carcinoma, which may play a causal role in disease progression, [RefSeq, PubMed]; SAP-1 induces apoptotic cell death by inhibition of cell survival signaling mediated by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway., [RefSeq, PubMed]; The High Expression of PTPRH Is Associated with Poor Prognosis of Human Lung Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 10, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "C9JCH2;Q15426;Q2NKN9;Q2NKP0", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" } ], "go_molecular_function": "GO:0045296 cadherin binding;GO:0005001 transmembrane receptor protein tyrosine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0031528 microvillus membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process;GO:0006470 protein dephosphorylation;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9HD43-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y512-1", "uniprot_id": [ { "id": "SAM50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y512", "type": "external" } ], "mass": 51976.0, "length": 469, "protein_name": "Sorting and assembly machinery component 50 homolog", "gene_name": "SAMM50", "organism": "Human", "refseq_name": "sorting and assembly machinery component 50 homolog", "refseq_ac": [ { "id": "NP_056195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056195", "type": "external" } ], "gene_names_uniprotkb": "SAMM50; CGI-51; SAM50; TRG3", "gene_names_refseq": "CGI-51; OMP85; SAM50; SAMM50; TOB55; TRG-3; YNL026W", "protein_names_uniprotkb": "Sorting and assembly machinery component 50 homolog; TRG-3; Transformation-related gene 3 protein", "protein_names_refseq": "sorting and assembly machinery 50kDa; sorting and assembly machinery component 50 homolog; transformation-related gene 3 protein", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208)", "pathway": " (hsa:25813); (R-HSA-1268020); (R-HSA-8949613); (R-HSA-9013404)", "pathway_count": 4, "publication_count": 174, "publication_id_list": "10847683;11145705;11149925;11704860;11919634;1464587;14675773;14726512;15023524;15169870;15254020;15542837;15644312;15683237;15814684;16081809;16185709;16243035;16243036;1660188;16777452;16849325;17060455;17121862;17158234;17214551;17269730;17510655;17624330;17698854;17765681;18056264;18174896;18191593;18323778;18662984;18678864;18940312;19409522;19453276;19767391;19962426;20068231;20112406;20593814;20833715;21081504;21151158;21378159;21654843;21750375;21836051;22114354;22252321;22864911;23041349;23255595;23481700;23597483;23757206;23811401;23870057;24098383;24129315;24623723;24687277;24714562;24715725;25285856;25315652;25418920;25576301;25645385;25764979;25781180;25862245;25880248;25997101;26016997;26154972;26416881;26477565;26530328;26697887;26728094;26811146;26929215;26968360;26992070;27479602;27481945;27485409;27600516;27623147;27846572;27862975;28063628;28218747;28228285;28411811;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30524438;30779550;31154438;31217245;31222486;31389670;31530632;31611695;31644573;31844290;31848261;31871319;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33465208;33592498;33691108;33717175;33936100;33968037;33981976;34037656;34087483;34171305;34357683;34490745;34509645;34932366;35025629;35051231;35254053;35313046;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;40596516;40914422;7479768;8645157;9113980;9705280", "class_list": "", "function": "Effects of PNPLA3, TM6SF2 and SAMM50 on the development and severity of non-alcoholic fatty liver disease in children., [RefSeq, PubMed]; Loss of Sam50 in hepatocytes induces cardiolipin-dependent mitochondrial membrane remodeling to trigger mtDNA release and liver injury., [RefSeq, PubMed]; Mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import, [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes (PubMed:22252321, PubMed:25781180). Required for the assembly of TOMM40 into the TOM complex (PubMed:15644312)., [UniProtKB, PubMed, PubMed, PubMed]; SAMM50 acts with p62 in piecemeal basal- and OXPHOS-induced mitophagy of SAM and MICOS components., [RefSeq, PubMed]; The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved., [RefSeq, PubMed]; This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[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": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q53HC4;Q56VW7;Q969Y9;Q96I46;Q9NW85;Q9UQM9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045040 protein insertion into mitochondrial outer membrane;GO:0042407 cristae formation;GO:0030150 protein import into mitochondrial matrix;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q9Y512-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08345-1", "uniprot_id": [ { "id": "DDR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08345", "type": "external" } ], "mass": 101128.0, "length": 913, "protein_name": "Epithelial discoidin domain-containing receptor 1", "gene_name": "DDR1", "organism": "Human", "refseq_name": "epithelial discoidin domain-containing receptor 1 isoform 4 precursor", "refseq_ac": [ { "id": "NP_001189450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189450", "type": "external" } ], "gene_names_uniprotkb": "DDR1; CAK; EDDR1; NEP; NTRK4; PTK3A; RTK6; TRKE", "gene_names_refseq": "CAK; CD167; DDR1; DDR; EDDR1; HGK2; MCK10; NEP; NTRK4; PTK3A; PTK3; RTK6; TRKE", "protein_names_uniprotkb": "Epithelial discoidin domain-containing receptor 1; 2.7.10.1; CD167 antigen-like family member A; Cell adhesion kinase; Discoidin receptor tyrosine kinase; Epithelial discoidin domain receptor 1; HGK2; MCK-10; Mammary carcinoma kinase 10; Protein-tyrosine kinase 3A; Protein-tyrosine kinase RTK-6; TRK E; Tyrosine kinase DDR; Tyrosine-protein kinase CAK", "protein_names_refseq": "CD167 antigen-like family member A; PTK3A protein tyrosine kinase 3A; cell adhesion kinase; epithelial discoidin domain-containing receptor 1 isoform 4 precursor; epithelial discoidin domain-containing receptor 1; mammary carcinoma kinase 10; neuroepithelial tyrosine kinase; neurotrophic tyrosine kinase, receptor, type 4; protein-tyrosine kinase RTK-6; tyrosine kinase DDR; tyrosine-protein kinase CAK", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); alcoholic hepatitis (Disease Ontology:DOID:12351); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); breast cancer (Disease Ontology:DOID:1612); ovarian cancer (Disease Ontology:DOID:2394); high grade glioma (Disease Ontology:DOID:3070); osteosarcoma (Disease Ontology:DOID:3347); breast carcinoma (Disease Ontology:DOID:3459); lung non-small cell carcinoma (Disease Ontology:DOID:3908); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); congestive heart failure (Disease Ontology:DOID:6000); hepatocellular carcinoma (Disease Ontology:DOID:684); skin melanoma (Disease Ontology:DOID:8923); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:780); (R-HSA-3000171)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "10.1038/emboj.2013.79;11237011;11847221;12023960;12065315;16234985;16337946;16702430;16806867;17344846;18083107;18190796;18593464;19369195;19401332;20093046;20432435;20884741;21044884;22057045;22424782;22483115;22862954;23481700;23584533;23899692;24029068;24509848;24671415;24715725;24768818;25576301;25645385;26154972;26375851;27600516;27920218;28218747;28228285;28467828;28590245;28649982;28855257;29093164;29242379;29393594;29437277;29438985;29557506;29632711;29786170;30779550;31020640;31154438;31217245;31844290;31937595;31979355;32157095;32161166;32357974;32488085;32502341;32938616;33141586;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34357683;35051231;35154160;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38503928;38570692;39024501;39175192;39505335;7834423;7845687;7848919;8226977;8247543;8302582;8390675;8622863;8796349;8977099;9659899;9659900", "class_list": "", "function": "Associations of altered leukocyte DDR1 promoter methylation and childhood trauma with bipolar disorder and suicidal behavior in euthymic patients., [RefSeq, PubMed]; DDR1 Drives Malignant Progression of Gastric Cancer by Suppressing HIF-1alpha Ubiquitination and Degradation., [RefSeq, PubMed]; Functional Role of DDR1 in Oligodendrocyte Signaling Mechanism in Association with Myelination and Remyelination Process in the Central Nerve System. Review article, [RefSeq, PubMed]; Inactivation of kindlin-3 increases human melanoma aggressiveness through the collagen-activated tyrosine kinase receptor DDR1., [RefSeq, PubMed]; Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Tyrosine kinase that functions as a cell surface receptor for fibrillar collagen and regulates cell attachment to the extracellular matrix, remodeling of the extracellular matrix, cell migration, differentiation, survival and cell proliferation. Collagen binding triggers a signaling pathway that involves SRC and leads to the activation of MAP kinases. Regulates remodeling of the extracellular matrix by up-regulation of the matrix metalloproteinases MMP2, MMP7 and MMP9, and thereby facilitates cell migration and wound healing. Required for normal blastocyst implantation during pregnancy, for normal mammary gland differentiation and normal lactation. Required for normal ear morphology and normal hearing (By similarity). Promotes smooth muscle cell migration, and thereby contributes to arterial wound healing. Also plays a role in tumor cell invasion. Phosphorylates PTPN11., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; [MiR-6838-5p overexpression inhibits proliferation of breast cancer MCF-7 cells by downregulating DDR1 expression]., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B5A975;B5A976;B7Z2K0;Q14196;Q16562;Q2L6H3;Q4LE50;Q5ST11;Q5ST12;Q6NSK4;Q9UD35;Q9UD36;Q9UD37;Q9UD86;Q9UDL2", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0005518 collagen binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0038062 protein tyrosine kinase collagen receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "GO:0061302 smooth muscle cell-matrix adhesion;GO:0007155 cell adhesion;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0010976 positive regulation of neuron projection development;GO:0038083 peptidyl-tyrosine autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q08345-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100100011001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q09028-1", "uniprot_id": [ { "id": "RBBP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q09028", "type": "external" } ], "mass": 47656.0, "length": 425, "protein_name": "Histone-binding protein RBBP4", "gene_name": "RBBP4", "organism": "Human", "refseq_name": "histone-binding protein RBBP4 isoform b", "refseq_ac": [ { "id": "NP_001128727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128727", "type": "external" } ], "gene_names_uniprotkb": "RBBP4; RBAP48", "gene_names_refseq": "NURF55; RBAP48; RBBP4; lin-53", "protein_names_uniprotkb": "Histone-binding protein RBBP4; CAF-1 subunit C; CAF-I 48 kDa subunit; CAF-I p48; Chromatin assembly factor 1 subunit C; Chromatin assembly factor I p48 subunit; Nucleosome-remodeling factor subunit RBAP48; RBBP-4; Retinoblastoma-binding protein 4; Retinoblastoma-binding protein p48", "protein_names_refseq": "CAF-1 subunit C; CAF-I 48 kDa subunit; CAF-I p48; MSI1 protein homolog; RBBP-4; chromatin assembly factor 1 subunit C; chromatin assembly factor I p48 subunit; chromatin assembly factor/CAF-1 p48 subunit; histone-binding protein RBBP4 isoform b; histone-binding protein RBBP4; nucleosome-remodeling factor subunit RBAP48; retinoblastoma-binding protein 4; retinoblastoma-binding protein p48", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227)", "pathway": " (hsa:5928); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-156711); (R-HSA-212300); (R-HSA-2559580); (R-HSA-3214815); (R-HSA-3214841); (R-HSA-427389); (R-HSA-5617472); (R-HSA-606279); (R-HSA-6804758); (R-HSA-69202); (R-HSA-69205); (R-HSA-69656); (R-HSA-73762); (R-HSA-8943724); (R-HSA-8953750); (R-HSA-9609690); (R-HSA-9679191); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 30, "publication_count": 543, "publication_id_list": "10.1101/2023.09.13.557529;10082553;10087012;10204490;10220405;10228158;10323868;10330177;10347217;10375532;10444591;10449787;10454565;10454584;10597240;10655587;10692433;10722742;10734134;10748112;10772813;10777502;10866654;10871633;10904264;10913176;10922406;10926844;10949293;10970879;10978333;11099047;11102443;11118440;11171983;11231585;11237011;11250901;11331609;11378386;11509652;11545734;11564866;11585773;11739383;11742974;11781575;11784859;11897663;11907280;11909966;11912130;11959841;11959842;11959846;11988738;12004135;12032298;12123582;12130538;12134156;12183469;12189133;12193592;12198550;12351676;12393749;12419226;12421820;12435631;12453418;12504854;12540855;12670868;12700765;12724404;12730199;12738781;12782299;12808055;12857923;1286667;12869583;12909625;12920132;1312467;13130464;1396589;14507994;14532106;14536086;14609955;14690610;14990995;14992727;15014447;15037762;15070733;15099518;15145825;15235609;15287722;15310751;15369671;15456747;1547496;15510213;15516265;15536069;15542832;15563468;15643425;15654331;15701600;15866172;15867264;15882967;15964846;16079151;16115318;16118227;16140760;16186106;16186825;16199523;16292313;16337592;16357870;16415179;16418168;16428440;16431907;16436515;16519522;16522641;16549775;16567619;16582612;16622420;16676006;16682010;16702404;16707490;16805913;16826196;16839880;16954381;1699755;17001316;17021013;17130829;17185360;17199038;17210787;17211407;17254968;17255097;17318177;17332741;17339379;17344414;17395714;17428788;17500065;17531812;17544230;1756725;17600109;17646674;17660710;17662961;17671431;17707229;17713478;17761849;17765224;17825402;17851529;17873065;17875933;17974977;18082607;18172008;18172012;18203656;18223688;18346456;18365017;18391013;18487508;18535146;18562691;18571423;18656484;18781158;18793328;18794358;18974356;18991276;19026781;19088198;19115252;19160488;19232136;19398759;19410544;19410545;19413330;19440552;19451217;19451218;19462008;19528227;19571010;19608861;19682613;19690332;19747919;1975088;19782034;19808676;19854132;19884659;20068231;20075857;20080577;20085832;20123894;20223979;20228809;20233713;2028256;20305658;20418909;20516213;20523938;20566683;20660729;20871592;20937877;20974918;21131967;21170310;21196496;21289308;21490301;21498570;21587264;21596310;21690215;21768289;21779408;21832073;21986495;22020331;22099308;22128185;22158034;22174689;22223895;22323599;22325352;22336108;22391450;22398447;22401777;22466170;22552008;22569366;22645359;22683641;22684280;22705304;22814904;22869377;22879880;22939622;23109430;23186163;23219899;23239876;23240008;23287862;23301498;23326524;23361464;23431171;23431328;23466526;23481700;23534758;23630040;23641311;23679895;23954429;24029068;24074865;24174538;24252660;24272870;24307175;24312487;24366607;24385926;24554700;24584101;24586203;24627085;24714562;24715725;24718924;24920672;25101834;25135475;25150861;25274305;25418920;25505266;25576301;25593309;25645385;2570724;25728608;25728771;25753662;25755297;25801024;25913784;26002965;26024233;26030138;26101246;26154972;26212009;26375851;26572645;26768311;26813693;26853435;26910647;26992070;27418187;27418309;27501258;27543614;27633282;27732854;27806305;27846572;27920218;2805069;28218747;28228285;28273063;28404884;28415052;28425720;28510447;28514659;28533432;28832583;28834231;28904123;28977666;29042441;29242379;29331515;29351928;29437277;29493099;29499137;29508533;29557506;29632711;29729076;29786170;29789417;29945920;30026490;30045876;30122475;30134174;30201761;30228260;30315122;30327463;30360396;30385408;30410026;30429286;30462309;30484775;30524438;30761409;30779550;30833945;30898548;30923826;30980593;30993897;31048504;31086175;31222486;31289231;31427381;31530632;31746185;31844290;31848261;31959557;31998317;32119511;32157095;32161166;32183950;32188940;32357974;32387766;32488085;32502341;32860047;32897882;32938616;32983136;33123756;33214551;33264408;33283408;33298915;33592498;33608512;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34509645;34932366;35008676;35051231;35138000;35138101;35154160;35292107;35318648;35561310;35580925;35851744;36008597;36010968;36284347;36736531;36881338;37938771;38359823;38577935;38665916;39109577;39460621;40596516;40914422;7488013;7491500;7501971;7503932;7513682;7535770;7588633;7623816;7629134;7743995;7799941;7801123;7816143;7831296;7859739;7906964;7908827;7929342;7969165;8001816;8050359;8078588;8114698;8259215;8288595;8319905;8350924;8602529;8618861;8622669;8622688;8626550;8674428;8700224;8703070;8741839;8759021;8769649;8774846;8846784;8858152;8943353;8974401;9016654;9020173;9030721;9150135;9162092;9195981;9199292;9218805;9272954;9427644;9482740;9482921;9501179;9512513;9520398;9520412;9529249;9564042;9628874;9632134;9651585;9662327;9689056;9704927;9724731;9768359;9778043;9790534;9804427;9824166;9885572;9891042", "class_list": "", "function": "CircAGO2 promotes colorectal cancer progression by inhibiting heat shock protein family B (small) member 8 via miR-1-3p/retinoblastoma binding protein 4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Core histone-binding subunit that may target chromatin assembly factors, chromatin remodeling factors and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA (PubMed:10866654). Component of the chromatin assembly factor 1 (CAF-1) complex, which is required for chromatin assembly following DNA replication and DNA repair (PubMed:8858152). Component of the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression (PubMed:9150135). Component of the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling (PubMed:16428440, PubMed:28977666, PubMed:39460621). Component of the PRC2 complex, which promotes repression of homeotic genes during development (PubMed:29499137, PubMed:31959557). Component of the NURF (nucleosome remodeling factor) complex (PubMed:14609955, PubMed:15310751)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interpreting the molecular mechanisms of RBBP4/7 and their roles in human diseases (Review). Review article, [RefSeq, PubMed]; RBBP4 regulates the expression of the Mre11-Rad50-NBS1 (MRN) complex and promotes DNA double-strand break repair to mediate glioblastoma chemoradiotherapy resistance., [RefSeq, PubMed]; RBBP4: A novel diagnostic and prognostic biomarker for non-small-cell lung cancer correlated with autophagic cell death., [RefSeq, PubMed]; This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R6G9;B4DRH0;D3DPQ3;P31149;Q53H02;Q96BV9", "ec_number_list": [], "go_molecular_function": "GO:0042826 histone deacetylase binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035098 ESC/E(Z) complex;GO:0016589 NURF complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 54.9, "record_id": "Q09028-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18074-1", "uniprot_id": [ { "id": "ERCC2_HUMAN", "url": "https://www.uniprot.org/uniprot/P18074", "type": "external" } ], "mass": 86909.0, "length": 760, "protein_name": "General transcription and DNA repair factor IIH helicase subunit XPD", "gene_name": "ERCC2", "organism": "Human", "refseq_name": "general transcription and DNA repair factor IIH helicase subunit XPD isoform 1", "refseq_ac": [ { "id": "NP_000391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000391", "type": "external" } ], "gene_names_uniprotkb": "ERCC2; XPDC; XPD", "gene_names_refseq": "COFS2; CXPD; EM9; ERCC2; TFIIH; TTD1; TTD; XPD", "protein_names_uniprotkb": "General transcription and DNA repair factor IIH helicase subunit XPD; 5.6.2.3; BTF2 p80; Basic transcription factor 2 80 kDa subunit; CXPD; DNA 5'-3' helicase XPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH p80; TFIIH subunit XPD; Xeroderma pigmentosum group D-complementing protein", "protein_names_refseq": "BTF2 p80; DNA 5'-3' helicase XPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase XPD subunit; TFIIH p80; TFIIH subunit XPD; basic transcription factor 2 80 kDa subunit; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; general transcription and DNA repair factor IIH helicase subunit XPD isoform 1; general transcription and DNA repair factor IIH helicase subunit XPD; xeroderma pigmentosum complementary group D; xeroderma pigmentosum group D-complementing protein", "tax_id": 9606, "disease": "xeroderma pigmentosum (Disease Ontology:DOID:0050427); myelodysplastic syndrome (Disease Ontology:DOID:0050908); autosomal recessive congenital ichthyosis (Disease Ontology:DOID:0060655); cerebrooculofacioskeletal syndrome 2 (Disease Ontology:DOID:0080912); xeroderma pigmentosum group D (Disease Ontology:DOID:0110845); trichothiodystrophy (Disease Ontology:DOID:0111866); photosensitive trichothiodystrophy 1 (Disease Ontology:DOID:0111873); prostate cancer (Disease Ontology:DOID:10283); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); gastric ulcer (Disease Ontology:DOID:10808); urinary bladder cancer (Disease Ontology:DOID:11054); asphyxia neonatorum (Disease Ontology:DOID:11088); acoustic neuroma (Disease Ontology:DOID:12689); Down syndrome (Disease Ontology:DOID:14250); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); ovary epithelial cancer (Disease Ontology:DOID:2152); photosensitive trichothiodystrophy (Disease Ontology:DOID:2960); Cockayne syndrome (Disease Ontology:DOID:2962); high grade glioma (Disease Ontology:DOID:3070); coronary artery disease (Disease Ontology:DOID:3393); skin disease (Disease Ontology:DOID:37); lung non-small cell carcinoma (Disease Ontology:DOID:3908); macular degeneration (Disease Ontology:DOID:4448); myelofibrosis (Disease Ontology:DOID:4971); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic myeloid leukemia (Disease Ontology:DOID:8552); acute myeloid leukemia (Disease Ontology:DOID:9119); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538); oral mucosa leukoplakia (Disease Ontology:DOID:9655); senile cataract (Disease Ontology:DOID:9669); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2068); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-2564830); (R-HSA-427413); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075)", "pathway_count": 31, "publication_count": 403, "publication_id_list": "10024882;10082553;10199401;10447254;10471499;10526214;10723029;10734143;10757782;10866664;10913176;10916156;10944529;10984493;11007478;11141066;11156600;11237011;11242112;11245433;11250901;11278856;11313498;11313499;11319176;11350971;11433015;11443545;11470747;11486021;11511374;11709541;11739720;11784853;11859374;11884399;11904382;11971958;11988847;12080057;12124811;12208738;12370301;12393749;12579497;12646563;12653964;12660172;12676794;12732143;12844488;1310361;14517266;14610093;14668933;14701750;14757194;14969726;15220921;1547496;15489290;15494306;15590680;15781865;15878910;15896456;15936590;15941969;15989964;16030353;16150943;16195237;16212814;16246722;16319991;16351803;16458430;16491090;16537713;16685590;16751180;16875604;16875933;16884686;17000769;17009404;17234882;17264068;17290000;1729695;17318177;17355984;17466625;17466626;17498557;17499042;17504986;17948053;17952468;17981804;18044339;18079701;18085999;18157150;18415712;18459458;18478337;18534129;18573874;18614043;18625724;18701435;19051060;19056823;19106100;19279666;1939271;19432884;19466538;19492231;19554020;19561388;19657998;19661379;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20111903;20127278;20159561;20204500;20227374;20368362;20379847;20541997;20571908;20649433;20797633;20802492;20876134;20979431;21063329;21070792;21075476;21129812;21182808;21282463;21541661;21553048;21633601;21643959;21667112;21740187;21793320;2184031;21890746;22012619;22081108;22118460;22179996;22183071;22466610;22466611;22466612;22536360;22579466;22644997;22678361;22678362;22805593;22870145;22902626;22982363;22988298;22994751;22994779;23028453;23038248;23045548;23098477;23150669;23271362;23317281;23352696;23390054;23481700;23494240;23534729;23538671;23585563;23716550;23751493;23771356;23891004;23906714;23973375;23973729;23977265;24101192;24127601;24157118;24234258;24254311;24258710;24260311;24338713;24347488;24354960;24402227;24402573;24443924;24486506;2449431;24504678;24510389;24535265;24554720;24611140;24662513;24687779;24714562;24761895;24763305;24841663;24955348;25023406;25050067;25113251;25154395;25169498;25418920;25422223;25429106;25435140;25469049;25520091;25538220;25546681;25561469;25576301;25645385;25712099;25748732;25824708;25880248;25892735;25916849;25962431;26001533;26001739;26042670;26054330;26086338;26136996;26151477;26154972;26349749;26375851;26379851;26482462;26526682;26550341;26659056;26682510;26695931;26728094;26811146;26992070;27069143;27193682;27306318;27418187;27418309;27600516;27686263;27846572;27888704;27920218;2805069;28063628;28223548;28228285;28230823;28297668;28797198;28832583;28834231;28904123;29242379;29260835;29320706;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29768284;29769354;29786170;30315122;30410026;30429286;30779550;31154438;31217245;31253769;31530632;31844290;31848261;32157095;32161166;32355176;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33902107;33912179;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36284347;37498063;37933861;38285784;38879503;39096913;39302247;7151173;7491500;7559382;7585650;7597036;7601352;7660122;7660129;7660130;7700386;7724549;7801123;7825573;7849702;7853496;7920640;8078911;8156590;8330735;8370526;8413672;8465201;8490964;8571952;8692841;8786141;8876179;8946909;9063748;9101292;9130708;9195225;9238033;9256425;9326587;9353262;9405375;9450929;9489704;9512541;9582279;9699634;9716411;9758621;9765293;9771713;9790902;9852112;9857195;9875289", "class_list": "", "function": "ATP-dependent 5'-3' DNA helicase (PubMed:31253769, PubMed:8413672, PubMed:9771713). Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, not absolutely essential for minimal transcription in vitro (PubMed:10024882, PubMed:17466626, PubMed:9771713). Required for transcription-coupled nucleotide excision repair (NER) of damaged DNA; recognizes damaged bases (PubMed:17466626, PubMed:23352696, PubMed:9771713). Sequestered in chromatin on UV-damaged DNA (PubMed:23352696). When complexed to CDK-activating kinase (CAK), involved in transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. Involved in DNA lesion verification (PubMed:31253769). In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. The structure of the TFIIH transcription complex differs from the NER-TFIIH complex; large movements by XPD/ERCC2 and XPB/ERCC3 are stabilized by XPA which allow this subunit to contact ssDNA (PubMed:31253769, PubMed:33902107). Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Differing structures and dynamics of two photolesions portray verification differences by the human XPD helicase., [RefSeq, PubMed]; ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer., [RefSeq, PubMed]; Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients: A Hospital Based Study from Maharashtra. Publication Status: Online-Only, [RefSeq, PubMed]; NOP2-mediated m5C methylation of XPD is associated with hepatocellular carcinoma progression., [RefSeq, PubMed]; The association between XPD rs13181 and rs1799793 polymorphism and oral cancer risk: evidence from a meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 36, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2TB78;Q2YDY2;Q7KZU6;Q8N721", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.56", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0003684 damaged DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0071817 MMXD complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006979 response to oxidative stress;GO:0007059 chromosome segregation;GO:0006915 apoptotic process;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 40.6, "record_id": "P18074-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49961-1", "uniprot_id": [ { "id": "ENTP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49961", "type": "external" } ], "mass": 57965.0, "length": 510, "protein_name": "Ectonucleoside triphosphate diphosphohydrolase 1", "gene_name": "ENTPD1", "organism": "Human", "refseq_name": "ectonucleoside triphosphate diphosphohydrolase 1 isoform 2", "refseq_ac": [ { "id": "NP_001091645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091645", "type": "external" } ], "gene_names_uniprotkb": "ENTPD1; CD39", "gene_names_refseq": "ATP-DPH; ATPDase; CD39; ENTPD1; NTPDase-1; SPG64", "protein_names_uniprotkb": "Ectonucleoside triphosphate diphosphohydrolase 1; 3.6.1.5; ATP diphosphohydrolase; ATP-DPH; ATPDase; Ecto-ATP diphosphohydrolase 1; Ecto-ATPDase 1; Ecto-ATPase 1; Ecto-apyrase; Lymphoid cell activation antigen; NTPDase1; Nucleoside triphosphate diphosphohydrolase 1", "protein_names_refseq": "CD39 antigen; NTPDase1; ecto-ATP diphosphohydrolase 1; ecto-ATPDase 1; ecto-ATPase 1; ecto-apyrase; ectonucleoside triphosphate diphosphohydrolase 1 isoform 2; lymphoid cell activation antigen; nucleoside triphosphate diphosphohydrolase 1", "tax_id": 9606, "disease": "hereditary spastic paraplegia 64 (Disease Ontology:DOID:0110815); pre-eclampsia (Disease Ontology:DOID:10591); hypothyroidism (Disease Ontology:DOID:1459); pancreatic cancer (Disease Ontology:DOID:1793); intrahepatic cholestasis (Disease Ontology:DOID:1852); transient cerebral ischemia (Disease Ontology:DOID:224); demyelinating disease (Disease Ontology:DOID:3213); middle cerebral artery infarction (Disease Ontology:DOID:3525); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:953); (R-HSA-8850843); (R-HSA-9660826)", "pathway_count": 3, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;10400613;10405171;10470077;10510450;10636909;10681547;10866813;10948193;11041856;11041857;11237011;11278936;11313357;11927941;11929769;12694193;12888562;14529283;14675084;15122917;15130768;16338080;17095758;17502665;18404504;18404510;19159218;19640930;20682839;21074248;21586362;21654843;22169232;23241884;23481700;23739916;23817414;23878142;24190977;24397554;24482476;24714562;24715725;25502872;25505266;25880248;26116704;26154972;26375851;26758079;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;29741879;29786170;30315122;30410026;30429286;30573663;30626607;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;33298915;33392160;33717175;33912179;34357683;34433824;34932366;35051231;35154160;35251023;35580925;36010968;36284347;36581221;37074911;37217939;37938771;38062068;38139439;38275742;38975728;7930580;8529670;8626624;8955160;8995405;8996251;9364474;9556635;9675246;9846014", "class_list": "", "function": "Altered CD39 and CD73 Expression in Rheumatoid Arthritis: Implications for Disease Activity and Treatment Response. Publication Status: Online-Only, [RefSeq, PubMed]; CD39 Is Expressed on Functional Effector and Tissue-resident Memory CD8+ T Cells., [RefSeq, PubMed]; Cancer CD39 drives metabolic adaption and mal-differentiation of CD4[+] T cells in patients with non-small-cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the hydrolysis of nucleoside triphosphates (NTPs) and diphosphates (NDPs) (Probable) (PubMed:8529670, PubMed:8626624, PubMed:8955160, PubMed:8996251). The enzyme sequentially removes phosphate groups in two successive steps, converting NTPs to nucleoside monophosphates (NMPs) via NDP intermediates (Probable) (PubMed:8529670, PubMed:8626624, PubMed:8955160, PubMed:8996251). This activity contributes to the regulation of extracellular levels of nucleotides (Probable) (PubMed:8529670, PubMed:8626624, PubMed:8955160, PubMed:8996251). By hydrolyzing proinflammatory ATP and platelet-activating ADP to AMP, it blocks platelet aggregation and supports blood flow (PubMed:8955160, PubMed:8996251)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Elevated CD39+T-Regulatory Cells and Reduced Levels of Adenosine Indicate a Role for Tolerogenic Signals in the Progression from Moderate to Severe COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 30, "disease_count": 9, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1X8;B4DWB9;B4E1X1;B7Z599;G3XAF6;Q5T561;Q5T562;Q86VV3;Q9UQQ9;Q9Y3Q9", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.16", "type": "external" }, { "id": "3.6.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.53", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005524 ATP binding;GO:0005525 GTP binding;GO:0016887 ATP hydrolysis activity;GO:0004382 GDP phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0005901 caveola", "go_biological_process": "GO:0046032 ADP catabolic process;GO:0007155 cell adhesion;GO:0007596 blood coagulation;GO:0070527 platelet aggregation;GO:0009134 nucleoside diphosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P49961-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y221-1", "uniprot_id": [ { "id": "NIP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y221", "type": "external" } ], "mass": 20463.0, "length": 180, "protein_name": "60S ribosome subunit biogenesis protein NIP7 homolog", "gene_name": "NIP7", "organism": "Human", "refseq_name": "60S ribosome subunit biogenesis protein NIP7 homolog isoform 2", "refseq_ac": [ { "id": "NP_001186363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186363", "type": "external" } ], "gene_names_uniprotkb": "NIP7; CGI-37; HSPC031; HSPC180; SW-cl.76; SW-cl.78", "gene_names_refseq": "CGI-37; HSPC031; KD93; NIP7", "protein_names_uniprotkb": "60S ribosome subunit biogenesis protein NIP7 homolog; KD93; Nucleolar pre-rRNA processing protein NIP7", "protein_names_refseq": "60S ribosome subunit biogenesis protein NIP7 homolog isoform 2; 60S ribosome subunit biogenesis protein NIP7 homolog; NIP7, nucleolar pre-rRNA processing protein; nuclear import 7 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51388); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11922599;12068309;12150911;12429849;14660641;15522784;16037817;16043514;16738141;16959974;17189298;17353269;17412707;17643419;17697703;18065403;18438418;19106111;19332556;19564402;19801658;20038530;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22424782;22898188;22916032;23439679;23482395;2388630;24424021;24550520;24715725;24980433;25418920;25525153;25576301;25802875;25892735;25969445;26154972;26237581;26375851;26992070;27600516;27846572;28063628;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30317246;30429286;30484775;30524438;30779550;30833945;31217245;31222486;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;9482744", "class_list": "", "function": "KD93 is a novel protein expressed in human hematopoietic stem/progenitor cells, [RefSeq, PubMed]; Required for proper 34S pre-rRNA processing and 60S ribosome subunit assembly., [UniProtKB, PubMed]; The Cox regression model revealed that only NIP7, RPL10L, and MCM2 exhibited significant correlation with distant recurrence-free survival in liposarcoma in the GSE30929 dataset, and the regression coefficients were -0.676, -0.703, and 0.868, respectively 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": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RD04;Q9NZZ0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0030687 preribosome, large subunit precursor", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0042255 ribosome assembly", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9Y221-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95834-1", "uniprot_id": [ { "id": "EMAL2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95834", "type": "external" } ], "mass": 70679.0, "length": 649, "protein_name": "Echinoderm microtubule-associated protein-like 2", "gene_name": "EML2", "organism": "Human", "refseq_name": "echinoderm microtubule-associated protein-like 2 isoform 1", "refseq_ac": [ { "id": "NP_001180197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180197", "type": "external" } ], "gene_names_uniprotkb": "EML2; EMAP2; EMAPL2", "gene_names_refseq": "ELP70; EMAP-2; EMAP2; EML2", "protein_names_uniprotkb": "Echinoderm microtubule-associated protein-like 2; EMAP-2; HuEMAP-2", "protein_names_refseq": "echinoderm MT-associated protein (EMAP)-like protein 70; echinoderm microtubule associated protein like 2; echinoderm microtubule-associated protein-like 2 isoform 1; microtubule-associated protein like echinoderm EMAP", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723)", "pathway": " (hsa:24139)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10521658;11237011;11694528;16959974;22645359;24318111;24706829;24714562;24715725;25740311;25892735;26992070;27920218;28218747;28510447;28649982;28832583;28834231;28904123;29242379;29331515;29437277;29508533;29632711;29786170;30315122;30410026;30429286;30779550;31154438;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33392160;33633747;33717175;33936100;33968037;33981976;34087483;34171305;34932366;35318648;35580925;35963242;36241641;36284347;37938771", "class_list": "", "function": "Both EMAP II and CXCR3 were essentially required for gp120-induced lung microvascular endothelial cell apoptosis., [RefSeq, PubMed]; EML2-S constitutes a new class of proteins that recognizes and regulates the dynamics of tyrosinated microtubules., [RefSeq, PubMed]; Tubulin binding protein that inhibits microtubule nucleation and growth, resulting in shorter microtubules., [UniProtKB, PubMed]; We have determined crystal structures of the coiled-coils from EML2 and EML4, which describe the structural basis of both EML self-association and oncogenic EML4-ALK 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": 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": "B7Z3I2;B7Z3Q9;K7ERL7;Q59EN8;Q8N5A2;Q9UG50", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005819 spindle;GO:0005874 microtubule;GO:0005875 microtubule associated complex;GO:0005856 cytoskeleton", "go_biological_process": "GO:0010968 regulation of microtubule nucleation;GO:0007601 visual perception;GO:0007605 sensory perception of sound;GO:0000226 microtubule cytoskeleton organization;GO:0031115 negative regulation of microtubule polymerization", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O95834-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49005-1", "uniprot_id": [ { "id": "DPOD2_HUMAN", "url": "https://www.uniprot.org/uniprot/P49005", "type": "external" } ], "mass": 51289.0, "length": 469, "protein_name": "DNA polymerase delta subunit 2", "gene_name": "POLD2", "organism": "Human", "refseq_name": "DNA polymerase delta subunit 2", "refseq_ac": [ { "id": "NP_001120690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120690", "type": "external" } ], "gene_names_uniprotkb": "POLD2", "gene_names_refseq": "POLD2", "protein_names_uniprotkb": "DNA polymerase delta subunit 2; DNA polymerase delta subunit p50", "protein_names_refseq": "DAN polymerase delta 2, accessory subunit; DNA polymerase delta subunit 2; DNA polymerase delta subunit p50; Pol delta B subunit (p50); polymerase (DNA directed), delta 2, accessory subunit; polymerase (DNA directed), delta 2, regulatory subunit 50kDa; polymerase (DNA) delta 2, accessory subunit", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5425); (R-HSA-110314); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174437); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183)", "pathway_count": 19, "publication_count": 241, "publication_id_list": "10.1101/2023.09.13.557529;10078208;10329413;10460157;10473346;10559261;10656791;10656792;10660545;10744741;10751307;10801132;10856253;10938287;10959839;10978529;10984059;11005803;11006276;11237011;11250913;11274057;11328591;11441019;11473323;11593007;11601988;11687589;11698410;11724925;11809771;11809883;11884592;12200445;12226657;12403614;12444249;12522211;12766176;12930902;1328683;14517266;14636568;14676842;15007108;15066120;15199127;15225546;15590680;15670210;15916957;16143102;16188885;16246722;16337601;16464020;16510448;16531995;1671046;16793375;1682322;16855289;16873062;17000769;17043239;17317665;17426132;17466625;17466626;17512402;17531815;17720710;17948053;17984070;18079701;18326858;18342608;18593712;18818516;19074196;19074197;19153606;19223468;19228687;19279666;1974050;19940136;19941829;20068231;20129063;20154325;20160730;20227374;20334433;20551483;20571119;20713735;20970388;21079801;21143968;21282463;21496642;21561855;21628590;2165567;21937421;22081108;22118461;22179786;22223895;22277660;22424782;22460582;22700975;22801543;22859295;22898188;22952233;23000965;23065663;23143872;23186163;23391514;23593430;23604072;23622243;23686288;23731732;23840062;23913683;24035200;24038470;24115439;24310611;24402227;24449906;24485656;24714562;24715725;24768535;25418920;25645385;25880248;25892735;26154972;26811146;26929215;26992070;27600516;27846572;27849570;27920218;28218747;28228285;2842325;28510447;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29557506;29632046;3004351;30059200;30315122;30410026;30779550;30833945;31217245;31449058;31844290;31998317;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33077594;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;34019948;34087483;34116171;34211107;34509645;34561969;34932366;35580925;36010968;36241641;36580660;37938771;40596516;40914422;7378348;7700386;7711022;7713898;7876218;8078911;8104944;8128251;8131753;8144677;8505312;8530069;8658138;8751446;8805365;8954124;9081985;9099749;9191022;9214649;9294177;9428522;9430682;9469823;9649448;9660172;9677427;9699634;9716411;9780000;9822671;9822680;9875289;9882630", "class_list": "", "function": "Accessory component of both the DNA polymerase delta complex and the DNA polymerase zeta complex (PubMed:17317665, PubMed:22801543, PubMed:24449906). As a component of the trimeric and tetrameric DNA polymerase delta complexes (Pol-delta3 and Pol-delta4, respectively), plays a role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:12403614, PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24035200). Pol-delta3 and Pol-delta4 are characterized by the absence or the presence of POLD4. They exhibit differences in catalytic activity. Most notably, Pol-delta3 shows higher proofreading activity than Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may also be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites performed by Pol-delta4, independently of DNA polymerase zeta (REV3L) or eta (POLH). Facilitates abasic site bypass by DNA polymerase delta by promoting extension from the nucleotide inserted opposite the lesion. Also involved in TLS as a component of the DNA polymerase zeta complex (PubMed:24449906). Along with POLD3, dramatically increases the efficiency and processivity of DNA synthesis of the DNA polymerase zeta complex compared to the minimal zeta complex, consisting of only REV3L and REV7 (PubMed:24449906)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Exome sequencing reveals novel rare variants in Iranian familial multiple sclerosis: The importance of POLD2 in the disease pathogenesis., [RefSeq, PubMed]; Polymerase delta promotes chromosomal rearrangements and imprecise double-strand break repair., [RefSeq, PubMed]; Results suggest that POLD2 and KSP37 might be potential prognostic biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the 50-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein is required for the stimulation of DNA polymerase delta activity by the processivity cofactor proliferating cell nuclear antigen (PCNA). Expression of this gene may be a marker for ovarian carcinomas. 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 5. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D2J4;B2R5S4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0043625 delta DNA polymerase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016035 zeta DNA polymerase complex", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006271 DNA strand elongation involved in DNA replication;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0042276 error-prone translesion synthesis", "synthesized_glycan_count": 0, "hit_score": 24.8, "record_id": "P49005-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6E0-1", "uniprot_id": [ { "id": "STK24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6E0", "type": "external" } ], "mass": 49308.0, "length": 443, "protein_name": "Serine/threonine-protein kinase 24", "gene_name": "STK24", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 24 isoform b precursor", "refseq_ac": [ { "id": "NP_001027467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027467", "type": "external" } ], "gene_names_uniprotkb": "STK24; MST3; STK3", "gene_names_refseq": "HEL-S-95; MST3B; MST3; STE20; STK24; STK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase 24; 2.7.11.1; MST-3; MST3/C; MST3/N; Mammalian STE20-like protein kinase 3 C-terminal; Mammalian STE20-like protein kinase 3 N-terminal; Mammalian STE20-like protein kinase 3; STE20-like kinase MST3", "protein_names_refseq": "STE20-like kinase 3; STE20-like kinase MST3; epididymis secretory protein Li 95; mammalian STE20-like protein kinase 3; serine/threonine kinase 24 (STE20 homolog, yeast); serine/threonine-protein kinase 24 isoform b precursor; serine/threonine-protein kinase 24; sterile 20-like kinase 3", "tax_id": 9606, "disease": "cerebral cavernous malformation (Disease Ontology:DOID:0060669)", "pathway": " (hsa:8428); (R-HSA-111465); (R-HSA-75153)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10200466;10453075;10490026;10644707;11106668;11237011;11278797;11313965;11463840;11741893;12107159;12668660;15254227;15304321;15917084;16123041;16314523;16983089;17046825;17081983;17297457;17344846;17525332;17657516;18212344;18452278;18669648;18691976;18782753;19604147;19782762;19855390;20124694;22229648;22564745;23186163;23301498;23889253;24556848;24715725;25576301;25645385;26992070;27600516;27807006;27846572;27862975;27920218;28218747;28510447;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632711;29786170;30315122;30410026;30779550;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33691108;33936100;33968037;34185709;34357683;34561969;34932366;35051231;35251023;35561310;35580925;35705054;36010968;36241641;36720310;37490000;38229183;40307207;40914422;8976194;9252332;9325343;9353338;9431985;9973322", "class_list": "", "function": "Activation of NDR2 is a multistep process involving phosphorylation of the hydrophobic motif site Thr444/2 by MST3., [RefSeq, PubMed]; Mst3 contains signals which may cooperate to control the subcellular distribution of Mst3., [RefSeq, PubMed]; Protein Kinase STK24 Promotes Tumor Immune Evasion via the AKT-PD-L1 Axis., [RefSeq, PubMed]; Proteolytic activation of Mst3 by caspases., [RefSeq, PubMed]; STE20-type kinases MST3 and MST4 promote the progression of hepatocellular carcinoma: Evidence from human cell culture and expression profiling of liver biopsies., [RefSeq, PubMed]; Serine/threonine-protein kinase STK24 induces tumorigenesis by regulating the STAT3/VEGFA signaling pathway., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts on both serine and threonine residues and promotes apoptosis in response to stress stimuli and caspase activation. Mediates oxidative-stress-induced cell death by modulating phosphorylation of JNK1-JNK2 (MAPK8 and MAPK9), p38 (MAPK11, MAPK12, MAPK13 and MAPK14) during oxidative stress. Plays a role in a staurosporine-induced caspase-independent apoptotic pathway by regulating the nuclear translocation of AIFM1 and ENDOG and the DNase activity associated with ENDOG. Phosphorylates STK38L on 'Thr-442' and stimulates its kinase activity. In association with STK26 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation (PubMed:27807006). Also regulates cellular migration with alteration of PTPN12 activity and PXN phosphorylation: phosphorylates PTPN12 and inhibits its activity and may regulate PXN phosphorylation through PTPN12. May act as a key regulator of axon regeneration in the optic nerve and radial nerve. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. 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)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]., [RefSeq]; This review notes that in the SOK1 and MST4 germinal center kinase III family of proteins, exon 1 encodes a 5' untranslated region, but this is not the case for MST3. 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": 13, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O14840;Q5JV92", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.4.22.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.60", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0048679 regulation of axon regeneration;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9Y6E0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49619-1", "uniprot_id": [ { "id": "DGKG_HUMAN", "url": "https://www.uniprot.org/uniprot/P49619", "type": "external" } ], "mass": 89124.0, "length": 791, "protein_name": "Diacylglycerol kinase gamma", "gene_name": "DGKG", "organism": "Human", "refseq_name": "diacylglycerol kinase gamma isoform 2", "refseq_ac": [ { "id": "NP_001074213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074213", "type": "external" } ], "gene_names_uniprotkb": "DGKG; DAGK3", "gene_names_refseq": "DAGK3; DGK-GAMMA; DGKG", "protein_names_uniprotkb": "Diacylglycerol kinase gamma; 2.7.1.107; DAG kinase gamma; DGK-gamma; Diglyceride kinase gamma", "protein_names_refseq": "DAG kinase gamma; diacylglycerol kinase gamma isoform 2; diacylglycerol kinase, gamma 90kDa; diacylglyerol kinase gamma; diglyceride kinase gamma", "tax_id": 9606, "disease": "glucose metabolism disease (Disease Ontology:DOID:4194)", "pathway": " (hsa:1608); (R-HSA-114508)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10071200;11080611;11237011;11413485;11805119;12732202;16905533;16959974;19033211;2175712;24486543;26154972;28218473;28832583;29393594;29557506;29632046;29632711;30399372;30429286;31722116;32387766;32938616;35051231;35580925;37838036;8034597;9601053;9930701", "class_list": "", "function": "Characterization of alpha-synuclein N-terminal domain as a novel cellular phosphatidic acid sensor., [RefSeq, PubMed]; Decreased expression of DGKgamma in hepatocellular carcinoma tissues was an independent risk factor for a poor prognosis., [RefSeq, PubMed]; Diacylglycerol kinase gamma regulates macrophage differentiation., [RefSeq, PubMed]; Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:8034597). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (By similarity). Has no apparent specificity with regard to the acyl compositions of diacylglycerol (PubMed:8034597). Specifically expressed in the cerebellum where it controls the level of diacylglycerol which in turn regulates the activity of protein kinase C gamma. Through protein kinase C gamma, indirectly regulates the dendritic development of Purkinje cells, cerebellar long term depression and ultimately cerebellar motor coordination (By similarity)., [UniProtKB, UniProtKB, PubMed]; Endothelial DGKG promotes tumor angiogenesis and immune evasion in hepatocellular carcinoma., [RefSeq, PubMed]; Epigenetic silencing of DGKG expression is associated with skin cancer., [RefSeq, PubMed]; These results indicate that DGKG is an anionic phospholipid binding protein that preferably interacts with a small highly charged head group that is very close to the glycerol or sphingosine backbone., [RefSeq, PubMed]; This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 23, "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": "B2RAH4;Q2M1H4;Q5FWG1", "ec_number_list": [ { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.93", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.93", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" } ], "go_molecular_function": "GO:0004143 ATP-dependent diacylglycerol kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0046339 diacylglycerol metabolic process;GO:0046834 lipid phosphorylation;GO:0006654 phosphatidic acid biosynthetic process;GO:0035556 intracellular signal transduction;GO:0030168 platelet activation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P49619-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50549-1", "uniprot_id": [ { "id": "ETV1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50549", "type": "external" } ], "mass": 55131.0, "length": 477, "protein_name": "ETS translocation variant 1", "gene_name": "ETV1", "organism": "Human", "refseq_name": "ETS translocation variant 1 isoform b", "refseq_ac": [ { "id": "NP_001156619", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156619", "type": "external" } ], "gene_names_uniprotkb": "ETV1; ER81", "gene_names_refseq": "ER81; ETV1", "protein_names_uniprotkb": "ETS translocation variant 1; Ets-related protein 81", "protein_names_refseq": "ETS translocation variant 1 isoform b; ets variant gene 1; ets-related protein 81", "tax_id": 9606, "disease": "bipolar disorder (Disease Ontology:DOID:3312); Ewing sarcoma (Disease Ontology:DOID:3369); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2115)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10982847;11237011;11551945;12213813;12569367;12917345;15561718;22586091;23774214;25645385;25866208;26154972;27869121;28411811;29557506;30379171;30779550;30833945;31154438;31844290;32157095;32488085;32938616;33298915;33912179;33968037;33981976;34171305;35051231;35580925;35860243;36109787;36241641;37428861;38200696;7651741;7700648", "class_list": "", "function": "ETV1 Positively Correlated With Immune Infiltration and Poor Clinical Prognosis in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; HGF-mediated elevation of ETV1 facilitates hepatocellular carcinoma metastasis through upregulating PTK2 and c-MET. Publication Status: Online-Only, [RefSeq, PubMed]; Reduction of ETV1 is Identified as a Prominent Feature of Age-Related Cataract., [RefSeq, PubMed]; This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcription factor ETV1-induced lncRNA MAFG-AS1 promotes migration, invasion, and epithelial-mesenchymal transition of pancreatic cancer cells by recruiting IGF2BP2 to stabilize ETV1 expression., [RefSeq, PubMed]; Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3' (PubMed:7651741). Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH) (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 25, "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": "A4D118;B2R768;B7Z2I4;B7Z618;B7Z9P2;C9JT37;E9PHB1;F5GXR2;O75849;Q4KMQ6;Q59GA7;Q6AI30;Q9UQ71;Q9Y636", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;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;GO:0006366 transcription by RNA polymerase II;GO:0048935 peripheral nervous system neuron development", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P50549-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZN54-1", "uniprot_id": [ { "id": "DEFI8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZN54", "type": "external" } ], "mass": 58710.0, "length": 512, "protein_name": "Differentially expressed in FDCP 8 homolog", "gene_name": "DEF8", "organism": "Human", "refseq_name": "differentially expressed in FDCP 8 homolog isoform 3", "refseq_ac": [ { "id": "NP_001229745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229745", "type": "external" } ], "gene_names_uniprotkb": "DEF8", "gene_names_refseq": "DEF8", "protein_names_uniprotkb": "Differentially expressed in FDCP 8 homolog; DEF-8", "protein_names_refseq": "DEF-8; differentially expressed in FDCP 8 homolog isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:54849)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;28218747;28832583;29242379;29393594;29437277;29632046;30315122;30410026;30524438;31844290;31848261;32157095;32387766;32938616;33141586;33612542;33968037;34357683;34509645;34561969;35251023;35921708;36010968", "class_list": "", "function": "DEF8 and Autophagy-Associated Genes Are Altered in Mild Cognitive Impairment, Probable Alzheimer's Disease Patients, and a Transgenic Model of the Disease., [RefSeq, PubMed]; Involvement of autophagic protein DEF8 in Lewy bodies., [RefSeq, PubMed]; Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts. Involved in bone resorption., [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": 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": "B3KT65;B4DK62;B4E0S9;B7Z3H6;H3BUG7;Q8N8N3;Q9NXL0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "", "go_biological_process": "GO:0045780 positive regulation of bone resorption;GO:0032418 lysosome localization;GO:1900029 positive regulation of ruffle assembly", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q6ZN54-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0B8-1", "uniprot_id": [ { "id": "CRLD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0B8", "type": "external" } ], "mass": 55920.0, "length": 497, "protein_name": "Cysteine-rich secretory protein LCCL domain-containing 2", "gene_name": "CRISPLD2", "organism": "Human", "refseq_name": "cysteine-rich secretory protein LCCL domain-containing 2 precursor", "refseq_ac": [ { "id": "NP_113664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113664", "type": "external" } ], "gene_names_uniprotkb": "CRISPLD2; CRISP11; LCRISP2; PRO9783", "gene_names_refseq": "CRISP11; CRISPLD2; LCRISP2; LGL1", "protein_names_uniprotkb": "Cysteine-rich secretory protein LCCL domain-containing 2; CRISP-11; Cysteine-rich secretory protein 11; LCCL domain-containing cysteine-rich secretory protein 2", "protein_names_refseq": "CRISP-11; LCCL domain-containing cysteine-rich secretory protein 2; cysteine-rich secretory protein 11; cysteine-rich secretory protein LCCL domain-containing 2 precursor; late gestation lung 1; testis secretory sperm-binding protein Li 207a; trypsin inhibitor", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567)", "pathway": " (hsa:83716); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "11230166;11237011;12975309;17287340;17616516;19664995;19864597;23090970;23650620;24190977;25691535;28411811;28832583;29437515;29557506;29899370;30459171;31557467;32938616;33091337;33968037;34624316;35561310;37021796;8692836", "class_list": "", "function": "CRISPLD2 is expressed in the mandible, palate and nasopharynx regions during craniofacial development at E13.5-E17.5, respectively. Altogether, these data suggest that genetic variation in CRISPLD2 has a role in the etiology of NSCLP. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2008 Apr 1;17(7):1061. Arco-Burgos, Mauricio [corrected to Arcos-Burgos, Mauricio]], [RefSeq, PubMed]; CRISPLD2 rs4783099 was associated with cleft lip and/or palate (CL/P) statistically (OR = 3.18, P < .01). Compared to genotype TT, genotypes CC and CT were correlated significantly (OR = 2.04, P = .04) with CL/P. No evidence showed an association between genetic variation at the CRISPLD2 locus and cleft palate only (CP)., [RefSeq, PubMed]; Decreased CRISPLD2 expression impairs osteogenic differentiation of human mesenchymal stem cells during in vitro expansion., [RefSeq, PubMed]; Identification of Rac guanine nucleotide exchange factors promoting Lgl1 phosphorylation in glioblastoma., [RefSeq, PubMed]; Our findings suggest that using specific asthma characteristics, such as airway hyperresponsiveness, can help identify more genetically homogeneous asthma subgroups with genotype-phenotype associations that may not be observed in all children with asthma. CRISPLD2 also may be important for baseline lung function in individuals with asthma who also may have airway hyperresponsiveness., [RefSeq, PubMed]; Present work introduces mammal CRISPLD2 as a major serum protein that acts as a natural LPS antagonist and promises to be of considerable preventative value against endotoxic shock., [RefSeq, PubMed]; Promotes matrix assembly., [UniProtKB]; We demonstrated that knockdown of Crispld2 in zebrafish alters neural crest cell migration patterns resulting in abnormal jaw and palate development. In this study, we performed RNA profiling in zebrafish embryos and identified 249 differentially expressed genes following knockdown of Crispld2., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DUM0;Q6P590;Q6UWH0;Q6UXC6;Q96IB1;Q96K61", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0034774 secretory granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030324 lung development;GO:0060325 face morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9H0B8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YH6-1", "uniprot_id": [ { "id": "DLP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YH6", "type": "external" } ], "mass": 44129.0, "length": 399, "protein_name": "All trans-polyprenyl-diphosphate synthase PDSS2", "gene_name": "PDSS2", "organism": "Human", "refseq_name": "all trans-polyprenyl-diphosphate synthase PDSS2", "refseq_ac": [ { "id": "NP_065114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065114", "type": "external" } ], "gene_names_uniprotkb": "PDSS2; C6orf210; DLP1", "gene_names_refseq": "C6orf210; COQ10D3; COQ1B; DLP1; PDSS2; bA59I9.3; hDLP1", "protein_names_uniprotkb": "All trans-polyprenyl-diphosphate synthase PDSS2; 2.5.1.91; All-trans-decaprenyl-diphosphate synthase subunit 2; Candidate tumor suppressor protein; Decaprenyl pyrophosphate synthase subunit 2; Decaprenyl-diphosphate synthase subunit 2; Solanesyl-diphosphate synthase subunit 2", "protein_names_refseq": "all trans-polyprenyl-diphosphate synthase PDSS2; all-trans-decaprenyl-diphosphate synthase subunit 2; decaprenyl pyrophosphate synthase subunit 2; decaprenyl pyrophosphate synthetase subunit 2; prenyl (decaprenyl) diphosphate synthase, subunit 2; solanesyl-diphosphate synthase subunit 2; subunit 2 of decaprenyl diphosphate synthase", "tax_id": 9606, "disease": "coenzyme Q10 deficiency disease (Disease Ontology:DOID:0050730); primary coenzyme Q10 deficiency 3 (Disease Ontology:DOID:0070240); congenital heart disease (Disease Ontology:DOID:1682)", "pathway": " (hsa:57107); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10501970;10777520;11237011;12721307;15153069;16262699;16624818;17186472;17374725;17916383;21540551;21944752;23354120;23481700;24270420;25152161;25339443;26154972;27155576;27499296;28510447;28904123;29557506;31154438;31530632;31783675;31844290;32387766;32707086;32938616;33064899;33141586;33298915;33592498;33929387;33936100;33968037;34171305;34357683;34471290;34509645;34800366;34932366;35051231;35580925;36010968;36241641;36306796;36658222;38425362;8621692;9083049", "class_list": "", "function": "Heterotetrameric enzyme that catalyzes the condensation of farnesyl diphosphate (FPP), which acts as a primer, and isopentenyl diphosphate (IPP) to produce prenyl diphosphates of varying chain lengths and participates in the determination of the side chain of ubiquinone (PubMed:16262699). Supplies nona and decaprenyl diphosphate, the precursors for the side chain of the isoprenoid quinones ubiquinone-9 (Q9) and ubiquinone-10 (Q10) respectively (PubMed:16262699). The enzyme adds isopentenyl diphosphate molecules sequentially to farnesyl diphosphate with trans stereochemistry (PubMed:16262699). May play a role during cerebellar development (By similarity). May regulate mitochondrial respiratory chain function (By similarity)., [UniProtKB, PubMed, UniProtKB]; Murine and human solanesyl and decaprenyl diphosphate synthases are heterotetramers composed of newly characterized hDPS1 (mSPS1) and hDLP1 (mDLP1)., [RefSeq, PubMed]; PDSS2 Inhibits the Ferroptosis of Vascular Endothelial Cells in Atherosclerosis by Activating Nrf2. Publication Status: Online-Only, [RefSeq, PubMed]; PDSS2-Del2, a new variant of PDSS2, promotes tumor cell metastasis and angiogenesis in hepatocellular carcinoma via activating NF-kappaB., [RefSeq, PubMed]; Study identified the promoter region of the PDSS2 gene for the first time and demonstrated that Sp1 transcription factor could directly regulate the transcription of PDSS2. Also, the expression of Sp1 and PDSS2 are negatively correlated, and higher Sp1 expression with low PDSS2 expression is significantly associated with poor prognosis in lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q33DR4;Q4G158;Q5VU38;Q5VU39;Q9NR58", "ec_number_list": [ { "id": "2.5.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.91", "type": "external" } ], "go_molecular_function": "GO:0004659 prenyltransferase activity;GO:0097269 all-trans-decaprenyl-diphosphate synthase activity;GO:0052923 all-trans-nonaprenyl-diphosphate synthase (geranyl-diphosphate specific) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0032478 heterotetrameric polyprenyl diphosphate synthase complex;GO:0032476 polyprenyl diphosphate synthase complex", "go_biological_process": "GO:0006744 ubiquinone biosynthetic process;GO:0021549 cerebellum development;GO:0008299 isoprenoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q86YH6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28845-1", "uniprot_id": [ { "id": "DHI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P28845", "type": "external" } ], "mass": 32401.0, "length": 292, "protein_name": "11-beta-hydroxysteroid dehydrogenase 1", "gene_name": "HSD11B1", "organism": "Human", "refseq_name": "11-beta-hydroxysteroid dehydrogenase 1", "refseq_ac": [ { "id": "NP_001193670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193670", "type": "external" } ], "gene_names_uniprotkb": "HSD11B1; HSD11L; HSD11; SDR26C1", "gene_names_refseq": "11-DH; 11-beta-HSD1; CORTRD2; HDL; HSD11B1; HSD11B; HSD11L; HSD11; SDR26C1", "protein_names_uniprotkb": "11-beta-hydroxysteroid dehydrogenase 1; 1.1.1.146; 1.1.1.201; 11-DH; 11-beta-HSD1; 7-oxosteroid reductase; Corticosteroid 11-beta-dehydrogenase isozyme 1; Short chain dehydrogenase/reductase family 26C member 1", "protein_names_refseq": "11-beta-hydroxysteroid dehydrogenase 1; 7-oxosteroid reductase; corticosteroid 11-beta-dehydrogenase isozyme 1; short chain dehydrogenase/reductase family 26C member 1", "tax_id": 9606, "disease": "cortisone reductase deficiency (Disease Ontology:DOID:0090139); cortisone reductase deficiency 2 (Disease Ontology:DOID:0090140); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); familial hyperlipidemia (Disease Ontology:DOID:1168); status epilepticus (Disease Ontology:DOID:1824); coronary artery disease (Disease Ontology:DOID:3393); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3290); (R-HSA-194002); (R-HSA-9757110)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10484077;10497248;10665657;10673364;10729196;11237011;11481269;11504826;11902585;12379510;12414862;12460758;12466373;12604685;12673034;12832414;12858176;1352877;1356264;1359686;14661924;14973125;15095019;15152005;15175422;15280030;15472518;15513927;15904907;16959974;17070044;17200165;17593962;17919905;18069989;18282684;18485702;18513745;18553955;1885595;19159218;19217779;1944309;19447222;1968359;19862647;20190787;20583968;20621639;21453287;21490593;22344233;2243100;23063411;23685396;25576301;2570070;25800201;26208431;2639662;27411675;2770297;27862975;27927697;28132103;2876781;2889032;2898143;29557506;29741879;29786170;30137266;3038528;30902677;31701669;31844290;31848261;32981041;32983136;3299377;3472246;3487786;35051231;3593903;37074911;3709632;37280272;37855366;37943405;39049478;6492791;7073761;7195404;7195405;7310640;7400951;7588203;7865904;8319583;9543163;9652413;9816258", "class_list": "", "function": "11-beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) gene expression in muscle is linked to reduced skeletal muscle index in sarcopenic patients., [RefSeq, PubMed]; Association of polymorphisms of HSD11B1 and ACE genes with trachoma disease., [RefSeq, PubMed]; Controls the reversible conversion of biologically active glucocorticoids such as cortisone to cortisol, and 11-dehydrocorticosterone to corticosterone in the presence of NADP(H) (PubMed:10497248, PubMed:12460758, PubMed:14973125, PubMed:15152005, PubMed:15280030, PubMed:17593962, PubMed:21453287, PubMed:23685396, PubMed:27927697, PubMed:30902677). Participates in the corticosteroid receptor-mediated anti-inflammatory response, as well as metabolic and homeostatic processes (PubMed:10497248, PubMed:12414862, PubMed:15152005, PubMed:21453287). Plays a role in the secretion of aqueous humor in the eye, maintaining a normotensive, intraocular environment (PubMed:11481269). Bidirectional in vitro, predominantly functions as a reductase in vivo, thereby increasing the concentration of active glucocorticoids (PubMed:10497248, PubMed:11481269, PubMed:12414862, PubMed:12460758). It has broad substrate specificity, besides glucocorticoids, it accepts other steroid and sterol substrates (PubMed:15095019, PubMed:15152005, PubMed:17593962, PubMed:21453287, PubMed:23685396). Interconverts 7-oxo- and 7-hydroxy-neurosteroids such as 7-oxopregnenolone and 7beta-hydroxypregnenolone, 7-oxodehydroepiandrosterone (3beta-hydroxy-5-androstene-7,17-dione) and 7beta-hydroxydehydroepiandrosterone (3beta,7beta-dihydroxyandrost-5-en-17-one), among others (PubMed:17593962). Catalyzes the stereo-specific conversion of the major dietary oxysterol, 7-ketocholesterol (7-oxocholesterol), into the more polar 7-beta-hydroxycholesterol metabolite (PubMed:15095019, PubMed:15152005). 7-oxocholesterol is one of the most important oxysterols, it participates in several events such as induction of apoptosis, accumulation in atherosclerotic lesions, lipid peroxidation, and induction of foam cell formation (PubMed:15095019). Mediates the 7-oxo reduction of 7-oxolithocholate mainly to chenodeoxycholate, and to a lesser extent to ursodeoxycholate, both in its free form and when conjugated to glycine or taurine, providing a link between glucocorticoid activation and bile acid metabolism (PubMed:21453287). Catalyzes the synthesis of 7-beta-25-dihydroxycholesterol from 7-oxo-25-hydroxycholesterol in vitro, which acts as a ligand for the G protein-coupled receptor (GPCR) Epstein-Barr virus-induced gene 2 (EBI2) and may thereby regulate immune cell migration (PubMed:30902677)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity. Publication Status: Online-Only, [RefSeq, PubMed]; Hyperglycemia-activated 11beta-hydroxysteroid dehydrogenase type 1 increases endoplasmic reticulum stress and skin barrier dysfunction. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 6, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R9Z1;D3DT89", "ec_number_list": [ { "id": "1.1.1.146", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.146", "type": "external" }, { "id": "1.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.201", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0070524 11-beta-hydroxysteroid dehydrogenase (NADP+) activity;GO:0042803 protein homodimerization activity;GO:0005496 steroid binding;GO:0050661 NADP binding;GO:0047022 7-beta-hydroxysteroid dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006713 glucocorticoid catabolic process;GO:0006706 steroid catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P28845-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41161-1", "uniprot_id": [ { "id": "ETV5_HUMAN", "url": "https://www.uniprot.org/uniprot/P41161", "type": "external" } ], "mass": 57838.0, "length": 510, "protein_name": "ETS translocation variant 5", "gene_name": "ETV5", "organism": "Human", "refseq_name": "ETS translocation variant 5", "refseq_ac": [ { "id": "NP_004445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004445", "type": "external" } ], "gene_names_uniprotkb": "ETV5; ERM", "gene_names_refseq": "ERM; ETV5", "protein_names_uniprotkb": "ETS translocation variant 5; Ets-related protein ERM", "protein_names_refseq": "ETS translocation variant 5; ets-related molecule; ets-related protein ERM", "tax_id": 9606, "disease": "respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); cystic fibrosis (Disease Ontology:DOID:1485); hepatitis C (Disease Ontology:DOID:1883); asthma (Disease Ontology:DOID:2841); bipolar disorder (Disease Ontology:DOID:3312); allergic rhinitis (Disease Ontology:DOID:4481); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2119)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;11682477;11840567;17126306;22022385;22299025;23186163;23481700;24715725;25576301;25645385;25755297;25866208;25880248;25892735;26154972;26375851;26992070;27600516;27862975;27920218;28228285;28832583;28904123;29242379;29485866;29508533;29557506;29786170;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33912179;33968037;33981976;34087483;34171305;34357683;34932366;35051231;35318648;35580925;36241641;36284347;36872348;37649213;37656259;37938771;38247171;38843187;8152800;8661127", "class_list": "", "function": "Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'., [UniProtKB, PubMed]; E26 transformation-specific transcription variant 5 in development and cancer: modification, regulation and function. Review article Publication Status: Online-Only, [RefSeq, PubMed]; ETV5 facilitates tumor progression in head-neck squamous cell carcinoma., [RefSeq, PubMed]; ETV5 promotes lupus pathogenesis and follicular helper T cell differentiation by inducing osteopontin expression., [RefSeq, PubMed]; ETV5 transcriptionally activates TGFbeta1 and promotes cancer cell invasion and migration of NSCLC., [RefSeq, PubMed]; YTHDF2 Is a Therapeutic Target for HCC by Suppressing Immune Evasion and Angiogenesis Through ETV5/PD-L1/VEGFA Axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NH46;B7Z7D7;Q6IBN5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO: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:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0034599 cellular response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P41161-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95235-1", "uniprot_id": [ { "id": "KI20A_HUMAN", "url": "https://www.uniprot.org/uniprot/O95235", "type": "external" } ], "mass": 100278.0, "length": 890, "protein_name": "Kinesin-like protein KIF20A", "gene_name": "KIF20A", "organism": "Human", "refseq_name": "kinesin-like protein KIF20A", "refseq_ac": [ { "id": "NP_005724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005724", "type": "external" } ], "gene_names_uniprotkb": "KIF20A; MKLP2; RAB6KIFL", "gene_names_refseq": "KIF20A; MKLP2; RAB6KIFL; RCM6", "protein_names_uniprotkb": "Kinesin-like protein KIF20A; GG10_2; MKlp2; Mitotic kinesin-like protein 2; Rab6-interacting kinesin-like protein; Rabkinesin-6", "protein_names_refseq": "GG10_2; RAB6 interacting, kinesin-like (rabkinesin6); kinesin-like protein KIF20A; mitotic kinesin-like protein 2; rab6-interacting kinesin-like protein; rabkinesin-6", "tax_id": 9606, "disease": "familial restrictive cardiomyopathy 6 (Disease Ontology:DOID:0061025)", "pathway": " (hsa:10112); (R-HSA-2132295); (R-HSA-6811434); (R-HSA-68884); (R-HSA-983189)", "pathway_count": 5, "publication_count": 280, "publication_id_list": "10036229;10052452;10064083;10072072;10233894;10318838;10445031;10480952;10540230;10559959;10593899;10631941;10631952;10639150;10748235;10761932;10806357;10809954;10921873;11060022;11172815;11237011;11493604;11529500;11684289;11689559;11703931;11726511;11739780;11748249;11782313;11790530;11813165;11853874;12047556;12070132;12078484;12198549;12368902;12742663;12748383;12939256;1406973;14504276;14654841;14731593;15029241;15037235;15199097;15272311;15326200;15616190;15632110;15749704;15813748;15911768;16030262;1607388;16181339;16242130;16262723;1631136;16565220;16571679;16618111;16633337;1680566;16824007;16912714;16926190;16940185;16964243;17081983;17113389;17142755;17253781;17283181;17346968;17360540;17429068;17451557;17538014;17760859;17927562;17956946;18046453;18182008;18220336;18287528;18292509;18342609;18524849;18669648;18691976;18809720;1898986;19007248;19015319;19109418;19116309;19151722;19164740;19338388;19369418;19413330;19415658;1956401;19564404;1957170;19631211;19664994;19691289;19758564;20005805;20068230;20068231;20112406;20136777;20357002;20427317;20462495;20534429;20637885;21116285;2121367;21219331;21406692;2142332;21441454;21550981;21689688;21844168;21872626;2190094;22013193;22094269;22304919;23186163;23396477;23481700;2391366;24316554;24366607;24606884;24714562;2521221;2522352;25364732;25418920;25436559;25492864;25505266;25576301;25802875;26154972;26375851;26728094;26811146;26992070;27600516;27783849;27846572;27920218;27939310;28063628;28228285;28393243;28832583;28834231;28855257;28904123;29242379;29331515;29357359;29393594;29493099;29508533;29557506;29632046;29769354;29786170;29790264;30315122;30484775;30524438;30779550;30791546;30833945;31217245;3130248;3134048;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32467984;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34405274;34509645;34561969;34932366;35051231;35251023;35561310;35580925;35874702;36010968;36037925;36215666;36241641;36284347;36637953;36763221;37248320;38037834;7481823;7528108;7539720;7592972;7650016;7667286;7822426;7844144;7929562;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8221884;8253837;8313912;8397411;8415765;8505331;8548803;8599929;8602245;8620540;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9114004;9177194;9202021;9244307;9288971;9311912;9312039;9405360;9497313;9539769;9545226;9606180;9751720;9990005", "class_list": "", "function": "Circ_0084188 Regulates the progression of colorectal cancer through the miR-769-5p/KIF20A axis., [RefSeq, PubMed]; Grade scoring system reveals distinct molecular subtypes and identifies KIF20A as a novel biomarker for predicting temozolomide treatment efficiency in gliomas., [RefSeq, PubMed]; High expression of KIF20A in bladder cancer as a potential prognostic target for poor survival of renal cell carcinoma., [RefSeq, PubMed]; KIF20A (Rab6KIFL/MKlp2) is required for cytokinesis, [RefSeq, PubMed]; KIF20A Promotes CRC Progression and the Warburg Effect through the C-Myc/HIF-1alpha Axis., [RefSeq, PubMed]; KIF20A promotes the development of fibrosarcoma via PI3K-Akt signaling pathway., [RefSeq, PubMed]; Mitotic kinesin required for chromosome passenger complex (CPC)-mediated cytokinesis. Following phosphorylation by PLK1, involved in recruitment of PLK1 to the central spindle. Interacts with guanosine triphosphate (GTP)-bound forms of RAB6A and RAB6B. May act as a motor required for the retrograde RAB6 regulated transport of Golgi membranes and associated vesicles along microtubules. Has a microtubule plus end-directed motility., [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": 35, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DL79;D3DQB6", "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:0003777 microtubule motor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005819 spindle", "go_biological_process": "GO:0015031 protein transport;GO:0000281 mitotic cytokinesis;GO:0007018 microtubule-based movement;GO:0032465 regulation of cytokinesis;GO:0001578 microtubule bundle formation", "synthesized_glycan_count": 0, "hit_score": 28.1, "record_id": "O95235-1", "record_type": "protein", "filter_code": "0001000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T1V6-1", "uniprot_id": [ { "id": "DDX59_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T1V6", "type": "external" } ], "mass": 68810.0, "length": 619, "protein_name": "Probable ATP-dependent RNA helicase DDX59", "gene_name": "DDX59", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX59 isoform 1", "refseq_ac": [ { "id": "NP_001026895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026895", "type": "external" } ], "gene_names_uniprotkb": "DDX59; ZNHIT5", "gene_names_refseq": "DDX59; OFD5; ZNHIT5", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX59; 3.6.4.13; DEAD box protein 59; Zinc finger HIT domain-containing protein 5", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 59; DEAD box protein 59; probable ATP-dependent RNA helicase DDX59 isoform 1; probable ATP-dependent RNA helicase DDX59; zinc finger HIT domain-containing protein 5; zinc finger HIT-type containing 5", "tax_id": 9606, "disease": "orofaciodigital syndrome V (Disease Ontology:DOID:0060375)", "pathway": " (hsa:83479)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11230166;11237011;16959974;18452278;18669648;19690332;20068231;23186163;23481700;23972372;24715725;25576301;25645385;25880248;28228285;28510447;28561026;28649982;28711741;28832583;28904123;29127725;29133145;29242379;29314611;29331515;29557506;30315122;30429286;30524438;31111544;31154438;31217245;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33717175;33968037;34019948;34171305;34211107;34509645;34932366;35051231;35580925;36010968;36215666", "class_list": "", "function": "Analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies-associated genes., [RefSeq, PubMed]; MicroRNA-628-5p inhibits cell proliferation in glioma by targeting DDX59., [RefSeq, PubMed]; Study presents evidence that DDX59 protein can be upregulated by MEK/ERK/MAP kinase pathway downstream of EGFR and Ras signaling. Increased expression of DDX59 mediates the tumorigenecity of EGFR and Ras in lung cancer., [RefSeq, PubMed]; The novel DDX59 mutation is associated with oral-facial-digital syndrome., [RefSeq, PubMed]; These data strongly implicate DDX59 RNA helicase family member in the pathogenesis of orofaciodigital 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": 5, "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": "Q6PJL2;Q8IVW3;Q9H0W3", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q5T1V6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H446-1", "uniprot_id": [ { "id": "RWDD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H446", "type": "external" } ], "mass": 27940.0, "length": 243, "protein_name": "RWD domain-containing protein 1", "gene_name": "RWDD1", "organism": "Human", "refseq_name": "RWD domain-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001007465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007465", "type": "external" } ], "gene_names_uniprotkb": "RWDD1; CGI-24; DFRP2; PTD013", "gene_names_refseq": "CGI-24; DFRP2; PTD013; RWDD1", "protein_names_uniprotkb": "RWD domain-containing protein 1; DRG family-regulatory protein 2", "protein_names_refseq": "DRG family-regulatory protein 2; RWD domain-containing protein 1 isoform b; RWD domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51389); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "11237011;1378441;15676025;17947579;1856229;18978678;19574390;19819225;20068231;20684070;21060799;22406838;22851697;23103944;23303181;24100311;24486019;24550447;24550462;24550463;25418920;25576301;25645385;25728928;28228285;28467828;28832583;28834231;28904123;29242379;29557506;29563586;29632711;29789417;29914368;29915238;30484775;31154438;31217245;31844290;31848261;32157095;32387766;32488085;32502341;32938616;32983136;33392160;33912179;33968037;34171305;34509645;35051231;35580925;36010968;36241641;37938771;6688526", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protects DRG2 from proteolytic degradation (By similarity). May function as a coactivator of the AR/androgen receptor transcription factor during development (PubMed:22406838)., [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": 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": "A8K3W2;A8MT24;Q9Y313;Q9Y6B3", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0030521 androgen receptor signaling pathway;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9H446-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNH5-1", "uniprot_id": [ { "id": "ZN497_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNH5", "type": "external" } ], "mass": 54721.0, "length": 498, "protein_name": "Zinc finger protein 497", "gene_name": "ZNF497", "organism": "Human", "refseq_name": "zinc finger protein 497", "refseq_ac": [ { "id": "NP_001193938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193938", "type": "external" } ], "gene_names_uniprotkb": "ZNF497", "gene_names_refseq": "ZNF497", "protein_names_uniprotkb": "Zinc finger protein 497", "protein_names_refseq": "zinc finger protein 497; zinc finger-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:162968)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;25576301;35494241;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": 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": "Q05AG8;Q0VF48;Q6ZTD2;Q9UIA8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO: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": 0.7, "record_id": "Q6ZNH5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92499-1", "uniprot_id": [ { "id": "DDX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92499", "type": "external" } ], "mass": 82432.0, "length": 740, "protein_name": "ATP-dependent RNA helicase DDX1", "gene_name": "DDX1", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DDX1", "refseq_ac": [ { "id": "NP_004930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004930", "type": "external" } ], "gene_names_uniprotkb": "DDX1", "gene_names_refseq": "DBP-RB; DDX1; UKVH5d", "protein_names_uniprotkb": "ATP-dependent RNA helicase DDX1; 3.6.4.13; DBP-RB; DEAD box protein 1; DEAD box protein retinoblastoma", "protein_names_refseq": "ATP-dependent RNA helicase DDX1; DEAD (Asp-Glu-Ala-Asp) box helicase 1; DEAD (Asp-Glu-Ala-Asp) box polypeptide 1; DEAD box polypeptide 1; DEAD box protein 1; DEAD box protein retinoblastoma; DEAD box-1; DEAD-box RNA helicase DDX1; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1; DEAD/H-box helicase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1653); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 163, "publication_id_list": "10.1101/2023.09.13.557529;10444065;11237011;11455963;11598190;11727826;11871657;12138183;12183465;12526808;12711671;12729736;14654843;15109492;15317868;15567440;16361254;16408927;16710424;17204286;17224653;17287340;18083107;18226598;18335541;18710941;18809514;18984158;19058135;19608861;19651622;20068231;20573827;21311021;21406692;21450806;21559454;21589879;21593607;21740066;21933836;22944664;23186163;23301498;23481700;23555621;23719902;23739916;23783831;24366607;24608264;2470644;24714562;24715725;24870230;25418920;25576301;25640237;25849199;25892735;26030138;26154972;26323305;26375851;26768311;26811146;26992070;27105836;27397612;27543614;27600516;27846572;27920218;28040436;28228285;28467828;28510447;28514659;28832583;28834231;28871256;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;30192525;30315122;30397120;30410026;30484775;30524438;31154438;31217245;31222486;31530632;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34229054;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37556111;37801910;37938771;38096740;38243657;38665916;39990658;40914422;6930639;7689221;7759547;7828588;9512417;9660920", "class_list": "", "function": "(Microbial infection) Required for Coronavirus IBV replication., [UniProtKB, PubMed]; (Microbial infection) Required for HIV-1 Rev function as well as for HIV-1 and coronavirus IBV replication. Binds to the RRE sequence of HIV-1 mRNAs., [UniProtKB, PubMed]; Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expression. Binds to the cyclin CCND2 promoter region. Associates with chromatin at the NF-kappa-B promoter region via association with RELA. Binds to poly(A) RNA. May be involved in 3'-end cleavage and polyadenylation of pre-mRNAs. It is also an accessory subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. Cooperates with ZBTB8OS (also known as archease) for the guanylylation of RTCB, a key intermediate step in activation of the tRNA ligase (PubMed:24870230). 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 via the adapter molecule TICAM1. Specifically binds (via helicase ATP-binding domain) on both short and long poly(I:C) dsRNA (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that acts as an ATP-dependent RNA helicase that has been found to promote coronaviruses replication. [provided by RefSeq, Aug 2021]., [RefSeq]; DEAD-box helicase 1 inhibited CD8[+] T cell antitumor activity by inducing PD-L1 expression in hepatocellular carcinoma., [RefSeq, PubMed]; Phosphorylation impacts GLE1 nuclear localization and association with DDX1., [RefSeq, PubMed]; RNA helicase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Role of DDX1 in the oxidative response of ataxia telangiectasia patient-derived fibroblasts., [RefSeq, PubMed]; The RNA-Splicing Ligase RTCB Promotes Influenza A Virus Replication by Suppressing Innate Immunity via Interaction with RNA Helicase DDX1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 3, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DME8;B4DPN6", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "6.5.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.8", "type": "external" } ], "go_molecular_function": "GO:0033677 DNA/RNA helicase activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:1903608 protein localization to cytoplasmic stress granule;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q92499-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY21-1", "uniprot_id": [ { "id": "DDX60_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY21", "type": "external" } ], "mass": 197853.0, "length": 1712, "protein_name": "Probable ATP-dependent RNA helicase DDX60", "gene_name": "DDX60", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX60 isoform 1", "refseq_ac": [ { "id": "NP_060101", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060101", "type": "external" } ], "gene_names_uniprotkb": "DDX60", "gene_names_refseq": "DDX60", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX60; 3.6.4.13; DEAD box protein 60", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 60; DEAD box protein 60; DEAD-box helicase 60; probable ATP-dependent RNA helicase DDX60 isoform 1; probable ATP-dependent RNA helicase DDX60", "tax_id": 9606, "disease": "", "pathway": " (hsa:55601)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "11237011;18452278;19651622;21478870;21791617;23481700;24714562;25576301;25645385;25880248;25892735;25981042;26154972;26375851;26728094;26992070;27397612;27835882;27846572;27862975;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35318648;35392757;35494241;35580925;36010968;36241641;36256515;36284347;36655136;37217939;37938771;38236450;38287816;39365875", "class_list": "", "function": "DDX60 Promotes Migration and Invasion of Head and Neck Squamous Cell Carcinoma Cell through the NF-kappaB/IFI27 Signaling Pathway., [RefSeq, PubMed]; DDX60 is a novel and unfavorable biomarker for tumorigenesis and prognosis of oral squamous cell carcinoma in a subsite-specific manner, [RefSeq, PubMed]; DDX60 is a novel antiviral helicase promoting RIG-I-like receptor-mediated signaling., [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular procsses involving RNA binding and alteration of RNA secondary structure. This gene encodes a DEXD/H box RNA helicase that functions as an antiviral factor and promotes RIG-I-like receptor-mediated signaling. [provided by RefSeq, Apr 2017]., [RefSeq]; Glomerular endothelial expression of type I IFN-stimulated gene, DExD/H-Box helicase 60 via toll-like receptor 3 signaling: possible involvement in the pathogenesis of lupus nephritis., [RefSeq, PubMed]; Integrative Bioinformatics Analysis Identifies DDX60 as a Potential Biomarker for Systemic Lupus Erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Oncogenic KRAS drives immunosuppression of colorectal cancer by impairing DDX60-mediated dsRNA accumulation and viral mimicry., [RefSeq, PubMed]; Positively regulates RIGI- and IFIH1/MDA5-dependent type I interferon and interferon inducible gene expression in response to viral infection. Binds ssRNA, dsRNA and dsDNA and can promote the binding of RIGI to dsRNA. Exhibits antiviral activity against hepatitis C virus and vesicular stomatitis virus (VSV). Selectively reduces infectious titers of viruses that depend on type II IRES-mediated translation by modulating ribosome occupancy on type II IRES-containing viral mRNAs, without affecting type I IRES-mediated translation (PubMed:36256515)., [UniProtKB, PubMed, PubMed, PubMed]; Possible involvement of DExD/H box helicase 60 in synovial inflammation of rheumatoid arthritis: role of toll-like receptor 3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Results define DDX60 as a sentinel for cytoplasmic antiviral response, which is counteracted by virus-mediated EGF receptor 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": 5, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PK35;Q9NVE3", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003690 double-stranded DNA binding;GO:0003725 double-stranded RNA binding;GO:0003727 single-stranded RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0009615 response to virus;GO:1900245 positive regulation of MDA-5 signaling pathway;GO:1900246 positive regulation of RIG-I signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q8IY21-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10768-1", "uniprot_id": [ { "id": "ESTD_HUMAN", "url": "https://www.uniprot.org/uniprot/P10768", "type": "external" } ], "mass": 31463.0, "length": 282, "protein_name": "S-formylglutathione hydrolase", "gene_name": "ESD", "organism": "Human", "refseq_name": "S-formylglutathione hydrolase", "refseq_ac": [ { "id": "NP_001975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001975", "type": "external" } ], "gene_names_uniprotkb": "ESD", "gene_names_refseq": "ESD; FGH", "protein_names_uniprotkb": "S-formylglutathione hydrolase; 3.1.1.56; 3.1.2.12; Esterase D; FGH; Methylumbelliferyl-acetate deacetylase", "protein_names_refseq": "S-formylglutathione hydrolase; esterase 10; esterase D/formylglutathione hydrolase; methylumbelliferyl-acetate deacetylase; testicular tissue protein Li 66", "tax_id": 9606, "disease": "", "pathway": " (hsa:2098); (R-HSA-156590)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10329152;10587441;10783391;10931946;11237011;11327815;11904223;12042665;12211029;12627223;12721789;14742434;16081649;16298388;16548513;19126594;19608861;20083122;20085333;21106529;21668448;22522127;23162467;23646949;24714562;25505266;25576301;25645385;25810538;25880248;26154972;26375851;26758079;26768311;26992070;27600516;27726376;27846572;27862975;27920218;28218747;28228285;28467828;28510447;28649982;28832583;28904123;29242379;29331515;29493099;29508533;29557506;29786170;29930882;30315122;30524438;30779550;31154438;31217245;31222486;31530632;3164702;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33592498;33691108;3372534;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34509645;3462698;3462714;34725712;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;36649442;3770744;38665916;39302247;4768551;7907313;8182750;8203914;8331657;8431482;8703034;8812420;9278457;9551553;9839448", "class_list": "glycogene", "function": "Esterase D interacts with metallothionein 2A and inhibits the migration of A549 lung cancer cells in vitro., [RefSeq, PubMed]; Serine hydrolase involved in the detoxification of formaldehyde., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. [provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 313, "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": "Q5TBU8;Q5TBV0;Q5TBV2;Q9BVJ2", "ec_number_list": [ { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.84", "type": "external" }, { "id": "3.1.2.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.12", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" } ], "go_molecular_function": "GO:0047374 methylumbelliferyl-acetate deacetylase activity;GO:0016788 hydrolase activity, acting on ester bonds;GO:0042802 identical protein binding;GO:0052689 carboxylic ester hydrolase activity;GO:0018738 S-formylglutathione hydrolase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0046294 formaldehyde catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P10768-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55039-1", "uniprot_id": [ { "id": "DRG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P55039", "type": "external" } ], "mass": 40746.0, "length": 364, "protein_name": "Developmentally-regulated GTP-binding protein 2", "gene_name": "DRG2", "organism": "Human", "refseq_name": "developmentally-regulated GTP-binding protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001379", "type": "external" } ], "gene_names_uniprotkb": "DRG2", "gene_names_refseq": "DRG2", "protein_names_uniprotkb": "Developmentally-regulated GTP-binding protein 2; 3.6.5.-; DRG-2; TRAFAC GTPase DRG2; Translation factor GTPase DRG2", "protein_names_refseq": "TRAFAC GTPase DRG2; developmentally-regulated GTP-binding protein 2 isoform 1; translation factor GTPase DRG2", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); nephrotic syndrome (Disease Ontology:DOID:1184); male infertility (Disease Ontology:DOID:12336); glomerulonephritis (Disease Ontology:DOID:2921); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:1819); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "11237011;1378441;15676025;17947579;1856229;19574390;19819225;20068231;20684070;21060799;22544926;22851697;23103944;23303181;23481700;24100311;24486019;24550447;24550462;24550463;24715725;25576301;25645385;25728928;26154972;26375851;26992070;27600516;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29563586;29632711;29786170;29914368;29915238;30315122;30429286;30779550;31217245;31844290;32157095;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33936100;33968037;33981976;34019948;34087483;34190439;34211107;34229054;34357683;34520979;34561969;34664086;35051231;35251023;35410347;35561310;36241641;37217939;38665916;39894887;40914422;6688526;7929244", "class_list": "", "function": "Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. When hydroxylated at C-3 of 'Lys-21' by JMJD7, may bind to RNA and play a role in translation., [UniProtKB, PubMed]; Developmentally regulated GTP-binding protein 2 levels in prostate cancer cell lines impact docetaxel-induced apoptosis., [RefSeq, PubMed]; Developmentally regulated GTP-binding protein-2 regulates adipocyte differentiation., [RefSeq, PubMed]; Developmentally regulated GTPases: structure, function and roles in disease. Review article, [RefSeq, PubMed]; This gene encodes a GTP-binding protein known to function in the regulation of cell growth and differentiation. Read-through transcripts containing this gene and a downstream gene have been identified, but they are not thought to encode a fusion protein. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "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": "B2R8G5;Q53Y50;Q9BWB2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "1.14.11.63", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.63", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P55039-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6T7-1", "uniprot_id": [ { "id": "DGKB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6T7", "type": "external" } ], "mass": 90595.0, "length": 804, "protein_name": "Diacylglycerol kinase beta", "gene_name": "DGKB", "organism": "Human", "refseq_name": "diacylglycerol kinase beta isoform 2", "refseq_ac": [ { "id": "NP_663733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_663733", "type": "external" } ], "gene_names_uniprotkb": "DGKB; DAGK2; KIAA0718", "gene_names_refseq": "DAGK2; DGK-BETA; DGKB; DGK", "protein_names_uniprotkb": "Diacylglycerol kinase beta; 2.7.1.107; 90 kDa diacylglycerol kinase; DAG kinase beta; DGK-beta; Diglyceride kinase beta", "protein_names_refseq": "90 kDa diacylglycerol kinase; DAG kinase beta; diacylglycerol kinase beta isoform 2; diacylglycerol kinase, beta 90kDa; diglyceride kinase beta", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); glucose metabolism disease (Disease Ontology:DOID:4194); anorexia nervosa (Disease Ontology:DOID:8689)", "pathway": " (hsa:1607); (R-HSA-114508)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11080611;11237011;11413485;11719522;11805119;19033211;19913121;20081858;2175712;27839966;29393594;29557506;30242153;33141586;33912179;34944458;35051231;36215666;36603576;9601053;9930701", "class_list": "", "function": "Association with the efficiency of hematopoietic stem cells (HSC) mobilization to PB were found in the SNPs of the DGKB gene involved in cell transport and SDF-1-induced migration ability and of the VCAM1 gene which is essential for HSC homing, suggesting that SNPs involved in cell migration ability might be partly involved in HSC mobilization to peripheral blood., [RefSeq, PubMed]; DGKB mediates radioresistance by regulating DGAT1-dependent lipotoxicity in glioblastoma., [RefSeq, PubMed]; Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:11719522). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (Probable). Has a higher activity with long-chain diacylglycerols like 1,2-di-(9Z-octadecenoyl)-sn-glycerol compared to 1,2-didecanoyl-sn-glycerol (By similarity). Specifically expressed in brain, it regulates neuron-specific morphological changes including neurite branching and neurite spine formation (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]., [RefSeq]; Does not associate with membranes but has a diacylglycerol kinase activity., [UniProtKB, PubMed]; Human diacylglycerol kinase beta gene can generate several enzyme isoforms, which can display different expression levels and subcellular localization but similar enzymatic activities in vitro., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet.2010 May;42(5):464], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA interference-mediated knockdown of the Drosophila ortholog of DGKB in insulin-producing cells, a model for mammalian beta cells, conferred increased insulin output. Publication Status: Online-Only, [RefSeq, PubMed]; RalA, PLD and mTORC1 Are Required for Kinase-Independent Pathways in DGKbeta-Induced Neurite Outgrowth. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "A4D116;A4D117;A8MXU2;O75241;Q2M377;Q75MF9;Q75MU7;Q86UI5;Q86UM9;Q9UQ29", "ec_number_list": [ { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.93", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.93", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" } ], "go_molecular_function": "GO:0004143 ATP-dependent diacylglycerol kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane;GO:0098978 glutamatergic synapse", "go_biological_process": "GO:0046339 diacylglycerol metabolic process;GO:0046834 lipid phosphorylation;GO:0006654 phosphatidic acid biosynthetic process;GO:0035556 intracellular signal transduction;GO:0030168 platelet activation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9Y6T7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16875-1", "uniprot_id": [ { "id": "F263_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16875", "type": "external" } ], "mass": 59609.0, "length": 520, "protein_name": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3", "gene_name": "PFKFB3", "organism": "Human", "refseq_name": "6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase 3 isoform 3", "refseq_ac": [ { "id": "NP_001269559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269559", "type": "external" } ], "gene_names_uniprotkb": "PFKFB3", "gene_names_refseq": "IPFK2; PFK2; PFKFB3; iPFK-2", "protein_names_uniprotkb": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3; 6PF-2-K/Fru-2,6-P2ase 3; 6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme; PFK/FBPase 3; Renal carcinoma antigen NY-REN-56; iPFK-2", "protein_names_refseq": "6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase; 6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase 3 isoform 3; 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3; 6PF-2-K/Fru-2,6-P2ase 3; 6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme; PFK/FBPase 3; fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase; inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase; renal carcinoma antigen NY-REN-56", "tax_id": 9606, "disease": "extrinsic cardiomyopathy (Disease Ontology:DOID:3978)", "pathway": " (hsa:5209); (R-HSA-9634600)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10072580;10077634;10095107;10508479;11237011;12065600;12721358;12963966;15896703;16115917;16316985;17499765;18452278;18669648;18767875;19651622;19690332;20068231;20166139;21993680;22115192;22275052;23186163;23481700;23548149;24714562;25032860;25418920;25502872;25576301;25849762;25892735;26375851;26929215;26992070;27397612;27585591;27846572;27862975;28235572;2837207;28904123;29113354;29410405;29437277;29493099;29557506;29620138;30100348;30226266;30315122;30410026;30429286;3052289;30779550;30833945;31154438;31844290;31848261;31998317;32060258;32157095;32161166;32198345;32265295;32357974;32488085;32830957;32897882;32938616;32983136;33298915;33537174;33580152;33592498;33691108;33717175;33912179;33931981;33968037;34171305;34932366;35051231;35318648;35580925;36010968;36284347;36402789;36581221;37938771;38640982;38705396;39016141;39261380;7574501;8830046;9146922;9464277", "class_list": "glycogene", "function": "Catalyzes both the synthesis and degradation of fructose 2,6-bisphosphate., [UniProtKB, PubMed, PubMed, PubMed]; Identification of PFKFB3 as a key factor in the development of colorectal cancer and immunotherapy resistance. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-106a-5p targets PFKFB3 and improves sepsis through regulating macrophage pyroptosis and inflammatory response., [RefSeq, PubMed]; PFKFB3 Regulates the Growth and Migration of Ovarian Cancer Cells through Pyroptosis and Warburg Effect Progression., [RefSeq, PubMed]; PFKFB3 cloning and characterization, [RefSeq, PubMed]; PFKFB3 promotes cell cycle progression and suppresses apoptosis via Cdk1-mediated phosphorylation of p27. Publication Status: Online-Only, [RefSeq, PubMed]; PFKFB3 regulates breast cancer tumorigenesis and Fulvestrant sensitivity by affecting ERalpha stability., [RefSeq, PubMed]; The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms 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": 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": 4, "reported_glycation": 0, "reported_snv": 584, "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": "B7Z955;O43622;O75902;Q5VX15;Q5VX18;Q5VX19", "ec_number_list": [ { "id": "2.7.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.105", "type": "external" }, { "id": "3.1.3.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.46", "type": "external" } ], "go_molecular_function": "GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity;GO:0005524 ATP binding;GO:0003873 6-phosphofructo-2-kinase activity;GO:0016787 hydrolase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0006000 fructose metabolic process;GO:0006096 glycolytic process;GO:0006003 fructose 2,6-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q16875-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTK1-1", "uniprot_id": [ { "id": "DEPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTK1", "type": "external" } ], "mass": 23406.0, "length": 212, "protein_name": "Protein DEPP1", "gene_name": "DEPP1", "organism": "Human", "refseq_name": "protein DEPP1", "refseq_ac": [ { "id": "NP_008952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008952", "type": "external" } ], "gene_names_uniprotkb": "DEPP1; C10orf10; DEPP; FIG", "gene_names_refseq": "C10orf10; DEPP1; DEPP; FIG; Fseg", "protein_names_uniprotkb": "Protein DEPP1; Decidual protein induced by progesterone; FIG; Fasting-induced gene protein", "protein_names_refseq": "DEPP1 autophagy regulator; decidual protein induced by progesterone; fasting induced; fasting-induced gene protein; fasting-induced protein; fat-specific expressed; protein DEPP1; protein DEPP", "tax_id": 9606, "disease": "", "pathway": " (hsa:11067)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11230166;11237011;15977181;16123073;16385451;17074750;21510935;24530860;24936657;25261981;25576301;26154972;26992070;27862975;28514659;28545464;28832583;28834231;29242379;29508533;29557506;29786170;29789417;30379171;30429286;30524438;30779550;31154438;31217245;31844290;31848261;31963726;32502341;32938616;33141586;33968037;34211107;34997944;35051231;35580925;36284347;37938771", "class_list": "", "function": "Acts as a critical modulator of FOXO3-induced autophagy via increased cellular ROS., [UniProtKB, PubMed, PubMed, PubMed]; C10orf10 expression is frequently decreased in breast cancer tissues and is associated with shorter survival times. Publication Status: Online-Only, [RefSeq, PubMed]; C10orf10/DEPP activates mitochondrial autophagy and maintains chondrocyte viability in the pathogenesis of osteoarthritis., [RefSeq, PubMed]; Depp modulates the effects of progesterone during decidualization and in the decidua by affecting gene expression., [RefSeq, PubMed]; Expressed in endothelial cells of peripheral tissues, but not in atrial or ventricular endocardial cells of the heart, unexpected degree of molecular heterogeneity among arterial endothelial cells, up-regulated in subsets of endothelial cells., [RefSeq, PubMed]; Knockdown of DEPP prevented the primary and secondary reactive oxygen species wave during FOXO3 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Expression of Decidual Protein Induced by Progesterone (DEPP) is Controlled by Three Distal Consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R6A1;O94997;Q5T735;Q76MX8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005777 peroxisome", "go_biological_process": "GO:0010506 regulation of autophagy;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9NTK1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14919-1", "uniprot_id": [ { "id": "NC2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14919", "type": "external" } ], "mass": 22350.0, "length": 205, "protein_name": "Dr1-associated corepressor", "gene_name": "DRAP1", "organism": "Human", "refseq_name": "dr1-associated corepressor", "refseq_ac": [ { "id": "NP_006433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006433", "type": "external" } ], "gene_names_uniprotkb": "DRAP1", "gene_names_refseq": "DRAP1; NC2-alpha", "protein_names_uniprotkb": "Dr1-associated corepressor; Dr1-associated protein 1; NC2-alpha; Negative cofactor 2-alpha", "protein_names_refseq": "dr1-associated corepressor; negative co-factor 2-alpha; negative cofactor 2 alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:10589); (R-HSA-1181150); (R-HSA-1502540)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "10473623;10822381;10934479;11024047;11117535;11237011;11294908;11389842;11461703;11485994;11779503;11779505;12063393;12592392;14978253;15087470;15123686;15150278;15350224;15485907;15509807;15531507;16140969;16260601;17272273;17906079;18166170;18951876;19114992;20694664;21356369;21383881;21532621;22424782;23481700;24715725;25548167;25576301;26154972;27397612;28063628;28228285;28832583;28855257;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29786170;30315122;30379171;30524438;30779550;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34019948;34211107;34509645;35051231;35318648;35561310;35580925;36010968;38665916;8196624;8608938;8622651;8670811;8721982;8878477;9032295;9288972;9311995;9459292;9670020;9702198", "class_list": "", "function": "The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own., [UniProtKB, PubMed, PubMed]; Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans. Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q13448", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity;GO:0017025 TBP-class protein binding;GO:0001046 core promoter sequence-specific DNA binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0090575 RNA polymerase II transcription regulator complex;GO:0017054 negative cofactor 2 complex", "go_biological_process": "GO:0017055 negative regulation of RNA polymerase II transcription preinitiation complex assembly;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q14919-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBM7-1", "uniprot_id": [ { "id": "DHCR7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBM7", "type": "external" } ], "mass": 54489.0, "length": 475, "protein_name": "7-dehydrocholesterol reductase", "gene_name": "DHCR7", "organism": "Human", "refseq_name": "7-dehydrocholesterol reductase isoform 1", "refseq_ac": [ { "id": "NP_001157289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157289", "type": "external" } ], "gene_names_uniprotkb": "DHCR7; D7SR", "gene_names_refseq": "DHCR7; SLOS", "protein_names_uniprotkb": "7-dehydrocholesterol reductase; 1.3.1.21; 3.3.2.11; 7-DHC reductase; Cholesterol-5,6-epoxide hydrolase subunit DHCR7; Delta7-sterol reductase; Sterol Delta(7)-reductase; Sterol reductase SR-2", "protein_names_refseq": "7-DHC reductase; 7-dehydrocholesterol reductase isoform 1; cholesterol-5,6-epoxide hydrolase subunit DHCR7; delta-7-dehydrocholesterol reductase; delta7-sterol reductase; putative sterol reductase SR-2; sterol delta-7-reductase", "tax_id": 9606, "disease": "Sjogren's syndrome (Disease Ontology:DOID:12894); Behcet's disease (Disease Ontology:DOID:13241); Smith-Lemli-Opitz syndrome (Disease Ontology:DOID:14692)", "pathway": " (hsa:1717); (R-HSA-2426168); (R-HSA-6807047); (R-HSA-9969901)", "pathway_count": 4, "publication_count": 140, "publication_id_list": "10391218;10391219;10400691;10677299;10759542;10995508;11175299;11237011;11414710;11427181;11519011;12083769;12177166;12189593;12618959;12764144;12812989;12829805;12949967;1377680;14404284;14506130;15175332;15954111;16784888;17449569;17925399;18559965;18654640;18682402;18691976;18726356;19007248;19369195;19651622;1968462;19690332;19691289;20068231;20138239;20166139;20450493;20615952;20719759;20937905;21406692;22634312;23186163;24275569;24715725;25576301;25637936;25787250;25880248;25892735;26114596;26154972;26375851;26758079;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28467828;28510447;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29508533;29557506;29632046;29769354;30315122;30410026;30484775;31217245;31844290;32157095;32350084;32357974;32502341;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34561969;34725712;34932366;35051231;35154160;35318648;35580925;36215666;36241641;36284347;37938771;38211648;38297129;38297130;38472233;38665916;7567999;7592729;7732023;7909540;8020941;8619637;8626466;8626488;8647822;8663358;8663599;8798690;8976377;9099716;9465114;9604010;9634533;9653161;9683613;9748295;9878250", "class_list": "", "function": "Catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core. Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol. Modulates ferroptosis (a form of regulated cell death driven by iron-dependent lipid peroxidation) through the metabolic breakdown of the anti-ferroptotic metabolites 7-DHC and 7-DHD which, when accumulated, divert the propagation of peroxyl radical-mediated damage from phospholipid components to its sterol core, protecting plasma and mitochondrial membranes from phospholipid autoxidation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Component of the microsomal antiestrogen binding site (AEBS), a multiproteic complex at the ER membrane that consists of an association between cholestenol Delta-isomerase/EBP and DHCR7. This complex is responsible for cholesterol-5,6-epoxide hydrolase (ChEH) activity, which consists in the hydration of cholesterol-5,6-epoxides (5,6-EC) into cholestane-3beta,5alpha,6beta-triol (CT). The precise role of each component of this complex has not been described yet., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; DHCR7 promotes lymph node metastasis in cervical cancer through cholesterol reprogramming-mediated activation of the KANK4/PI3K/AKT axis and VEGF-C secretion., [RefSeq, PubMed]; Inhibition of 7-dehydrocholesterol reductase prevents hepatic ferroptosis under an active state of sterol synthesis. Publication Status: Online-Only, [RefSeq, PubMed]; Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core. Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol. Modulates ferroptosis (a form of regulated cell death driven by iron-dependent lipid peroxidation) through the metabolic breakdown of the anti-ferroptotic metabolites 7-DHC and 7-DHD which, when accumulated, divert the propagation of peroxyl radical-mediated damage from phospholipid components to its sterol core, protecting plasma and mitochondrial membranes from phospholipid autoxidation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "B2R6Z2;O60492;O60717", "ec_number_list": [ { "id": "1.3.1.70", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.70", "type": "external" }, { "id": "5.3.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.5", "type": "external" }, { "id": "3.3.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.11", "type": "external" }, { "id": "1.3.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.21", "type": "external" } ], "go_molecular_function": "GO:0047598 7-dehydrocholesterol reductase activity;GO:0050661 NADP binding;GO:0033963 cholesterol-5,6-oxide hydrolase activity;GO:0050613 Delta14-sterol reductase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005640 nuclear outer membrane", "go_biological_process": "GO:0006695 cholesterol biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol;GO:0033490 cholesterol biosynthetic process via lathosterol;GO:0160020 positive regulation of ferroptosis", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9UBM7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75937-1", "uniprot_id": [ { "id": "DNJC8_HUMAN", "url": "https://www.uniprot.org/uniprot/O75937", "type": "external" } ], "mass": 29842.0, "length": 253, "protein_name": "DnaJ homolog subfamily C member 8", "gene_name": "DNAJC8", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 8", "refseq_ac": [ { "id": "NP_055095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055095", "type": "external" } ], "gene_names_uniprotkb": "DNAJC8; HSPC315; HSPC331; SPF31", "gene_names_refseq": "DNAJC8; HSPC331; SPF31", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 8; Splicing protein spf31", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 8; dnaJ homolog subfamily C member 8; splicing protein spf31", "tax_id": 9606, "disease": "", "pathway": " (hsa:22826); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 185, "publication_id_list": "10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;16314458;16809785;17095540;17128255;17287340;17332742;17606899;18288197;18322460;18593880;19103666;19165350;19217410;19240134;19536130;19608861;20068231;20305658;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22110043;22365833;22813749;22959432;22961380;23186163;23222130;23236153;23345524;23874216;24076191;24149845;24196718;24304693;24448447;24715725;24737827;24914973;25301780;25301781;25418920;25555158;25576301;2558966;26092250;26154972;26385511;26420826;26969736;26992070;27108190;27133716;27377154;27459055;27600516;27683217;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28781166;28832583;28834231;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29437277;29485866;29508533;29557506;29632046;2963332;29786170;29789417;29902443;29902837;30139799;30257008;30315277;30379171;30410026;30429286;30599162;30705154;30728453;30765414;30833945;30975767;31154438;31409651;31844290;31848261;31998317;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32816001;32897882;32983136;33091337;33123756;33141586;33177556;33214551;33243851;33298915;33446560;33537174;33592498;33633747;33691108;33912179;33968037;33981976;34019948;34171305;34301950;34433824;34509645;34561969;34822310;34932366;35051231;35177536;35215846;35318648;35385551;35580925;36284347;36580660;3757028;37938771;38274804;38665916;39894887;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "DNAJC8: a prognostic marker and potential therapeutic target for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Suppresses polyglutamine (polyQ) aggregation of ATXN3 in neuronal cells (PubMed:27133716)., [UniProtKB, PubMed]; TIG1 interacted with DNAJC8 in the cytosol, and this interaction completely blocked DNAJC8-mediated PKM2 translocation and inhibited glucose uptake. Furthermore, increased glycose uptake was observed in cells in which TIG1 was silenced., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DUU4;D3DPM0;Q6IBA4;Q8N4Z5;Q9P051;Q9P067", "ec_number_list": [], "go_molecular_function": "GO:0030544 Hsp70 protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "O75937-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L8A9-1", "uniprot_id": [ { "id": "VASH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L8A9", "type": "external" } ], "mass": 40957.0, "length": 365, "protein_name": "Tubulinyl-Tyr carboxypeptidase 1", "gene_name": "VASH1", "organism": "Human", "refseq_name": "tubulinyl-Tyr carboxypeptidase 1", "refseq_ac": [ { "id": "NP_055724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055724", "type": "external" } ], "gene_names_uniprotkb": "VASH1; KIAA1036; VASH", "gene_names_refseq": "KIAA1036; TTCP 1; VASH1", "protein_names_uniprotkb": "Tubulinyl-Tyr carboxypeptidase 1; 3.4.17.17; TTCP 1; Tubulin carboxypeptidase 1; Tyrosine carboxypeptidase 1; Vasohibin-1", "protein_names_refseq": "tubulin carboxypeptidase 1; tubulinyl-Tyr carboxypeptidase 1; tyrosine carboxypeptidase 1", "tax_id": 9606, "disease": "portal hypertension (Disease Ontology:DOID:10762); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:22846); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;1520276;15467828;15649403;15890843;16488400;16707096;16901895;17244817;17244818;17360631;17499049;18331838;19204325;19524510;19531357;20519502;20736312;21074048;23358242;25103237;25468068;25892735;25957412;26794318;27879017;29146868;29146869;29557506;30429286;31154438;31171830;31235910;31235911;31270470;31844290;31848261;32157095;32983136;33592498;35051231;35580925;36043524;37426316;38010374;38253038;38281945;39018366;7452228", "class_list": "", "function": "M[6]A methylation-mediated regulation of LncRNA MEG3 suppresses ovarian cancer progression through miR-885-5p and the VASH1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism of ELL-associated factor 2 and vasohibin 1 regulating invasion, migration, and angiogenesis in colorectal cancer., [RefSeq, PubMed]; Recombinant amino-terminal truncated forms of vasohibin retain inhibitory activity of angiogenesis in mouse corneal assay and show strong affinity to heparin., [RefSeq, PubMed]; Results suggest that KIAA1036, or vasohibin, is an endothelium-derived negative feedback regulator of angiogenesis [vasohibin], [RefSeq, PubMed]; Revealing the inhibitory effect of VASH1 on ovarian cancer from multiple perspectives., [RefSeq, PubMed]; Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869, PubMed:31171830, PubMed:31235910, PubMed:31235911, PubMed:31270470). Critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyrosination regulates mitotic spindle length and postioning (PubMed:31171830). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:15467828, PubMed:16488400, PubMed:16707096, PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (PubMed:15467828, PubMed:16488400, PubMed:16707096)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Vasohibin has an activity to prevent neointimal formation by inhibiting adventitial angiogenesis, [RefSeq, PubMed]; Vasohibin inhibition improves myocardial relaxation in a rat model of heart failure with preserved ejection fraction., [RefSeq, PubMed]; ZNF667 facilitates angiogenesis after myocardial ischemia through transcriptional regulation of VASH1 and Wnt signaling pathway., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 30, "reported_glycation": 0, "reported_snv": 8, "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": "Q96H02;Q9UBF4;Q9Y629", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.4.17.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.17", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0004181 metallocarboxypeptidase activity;GO:0106423 tubulin-tyrosine carboxypeptidase", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0045177 apical part of cell", "go_biological_process": "GO:1901491 negative regulation of lymphangiogenesis;GO:0001525 angiogenesis;GO:0006508 proteolysis;GO:0009611 response to wounding;GO:0001937 negative regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q7L8A9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23743-1", "uniprot_id": [ { "id": "DGKA_HUMAN", "url": "https://www.uniprot.org/uniprot/P23743", "type": "external" } ], "mass": 82630.0, "length": 735, "protein_name": "Diacylglycerol kinase alpha", "gene_name": "DGKA", "organism": "Human", "refseq_name": "diacylglycerol kinase alpha isoform a", "refseq_ac": [ { "id": "NP_001336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001336", "type": "external" } ], "gene_names_uniprotkb": "DGKA; DAGK1; DAGK", "gene_names_refseq": "DAGK1; DAGK; DGK-alpha; DGKA", "protein_names_uniprotkb": "Diacylglycerol kinase alpha; 2.7.1.107; 2.7.1.93; 80 kDa diacylglycerol kinase; DAG kinase alpha; DGK-alpha; Diglyceride kinase alpha", "protein_names_refseq": "80 kDa diacylglycerol kinase; DAG kinase alpha; diacylglycerol kinase alpha isoform a; diacylglycerol kinase, alpha 80kDa; diglyceride kinase alpha", "tax_id": 9606, "disease": "glucose metabolism disease (Disease Ontology:DOID:4194)", "pathway": " (hsa:1606); (R-HSA-114508)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "11080611;11237011;11413485;11805119;15544348;17700527;18083107;18424699;19033211;19608861;2175712;22627129;24715725;25576301;26154972;26375851;27655845;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29493099;29557506;29632711;30315122;30524438;30653270;31530632;31844290;32157095;32387766;32502341;32938616;32983136;33141586;33298915;33968037;34211107;34357683;35051231;35131384;35318648;35580925;35962191;36284347;36965165;38143235;38387281;38665916;38716625;7959783;8180475;9601053;9930701", "class_list": "", "function": "DGKA interacts with SRC/FAK to promote the metastasis of non-small cell lung cancer. Erratum:[Cancer Lett. 2022 Jul 28;539:215696. doi: 10.1016/j.canlet.2022.215696. PMID: 35477591], [RefSeq, PubMed]; Diacylglycerol kinase alpha is a proliferation marker of intrahepatic cholangiocarcinoma associated with the prognosis., [RefSeq, PubMed]; Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:2175712). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:15544348, PubMed:2175712). Also plays an important role in the biosynthesis of complex lipids (Probable). Can also phosphorylate 1-alkyl-2-acylglycerol in vitro as efficiently as diacylglycerol provided it contains an arachidonoyl group (PubMed:15544348). Also involved in the production of alkyl-lysophosphatidic acid, another bioactive lipid, through the phosphorylation of 1-alkyl-2-acetyl glycerol (PubMed:22627129)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Multiomics analysis reveals metabolic subtypes and identifies diacylglycerol kinase alpha (DGKA) as a potential therapeutic target for intrahepatic cholangiocarcinoma., [RefSeq, PubMed]; Targeting diacylglycerol kinase alpha impairs lung tumorigenesis by inhibiting cyclin D3., [RefSeq, PubMed]; The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017]., [RefSeq]; Tumor-associated macrophage (TAM)-secreted CCL22 confers cisplatin resistance of esophageal squamous cell carcinoma (ESCC) cells via regulating the activity of diacylglycerol kinase alpha (DGKalpha)/NOX4 axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "O75481;O75482;O75483;O95217;Q3ZE25;Q8IZ56;Q8N5Q2", "ec_number_list": [ { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.93", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.93", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" } ], "go_molecular_function": "GO:0004143 ATP-dependent diacylglycerol kinase activity;GO:0005524 ATP binding;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0046339 diacylglycerol metabolic process;GO:0046834 lipid phosphorylation;GO:0006654 phosphatidic acid biosynthetic process;GO:0035556 intracellular signal transduction;GO:0030168 platelet activation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P23743-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCU8-1", "uniprot_id": [ { "id": "DPOD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCU8", "type": "external" } ], "mass": 12433.0, "length": 107, "protein_name": "DNA polymerase delta subunit 4", "gene_name": "POLD4", "organism": "Human", "refseq_name": "DNA polymerase delta subunit 4 isoform 2", "refseq_ac": [ { "id": "NP_001243799", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243799", "type": "external" } ], "gene_names_uniprotkb": "POLD4; POLDS", "gene_names_refseq": "POLD4; POLDS; p12", "protein_names_uniprotkb": "DNA polymerase delta subunit 4; DNA polymerase delta subunit p12", "protein_names_refseq": "DNA polymerase delta smallest subunit p12; DNA polymerase delta subunit 4 isoform 2; DNA polymerase delta subunit 4; polymerase (DNA) delta 4, accessory subunit; polymerase (DNA-directed), delta 4, accessory subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:57804); (R-HSA-110314); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174437); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183)", "pathway_count": 19, "publication_count": 203, "publication_id_list": "10078208;10329413;10460157;10473346;10559261;10656791;10656792;10660545;10744741;10751307;10801132;10856253;10938287;10959839;10984059;11005803;11006276;11237011;11250913;11274057;11441019;11473323;11601988;11687589;11698410;11724925;11809771;11809883;11884592;12200445;12226657;12403614;12444249;12522211;12766176;12930902;1328683;14517266;14636568;14676842;15007108;15066120;15199127;15225546;15590680;15670210;15916957;16143102;16188885;16246722;16337601;16464020;16510448;16531995;1671046;16793375;1682322;16855289;16873062;16934752;17000769;17043239;17317665;17426132;17466625;17466626;17512402;17531815;17720710;17948053;17984070;18079701;18212344;18326858;18342608;18593712;18682526;19074196;19074197;19153606;19223468;19228687;19279666;1974050;19940136;19941829;20129063;20154325;20160730;20227374;20334433;20551483;20571119;20713735;20970388;21143968;21282463;21496642;21561855;21628590;2165567;21937421;22081108;22118461;22179786;22277660;22460582;22700975;22801543;22859295;22952233;23000965;23065663;23143872;23233665;23391514;23593430;23604072;23622243;23686288;23731732;23840062;23913683;24022480;24035200;24038470;24115439;24300032;24310611;24402227;24449906;24485656;24768535;25892735;26154972;26811146;26992070;27846572;27849570;27920218;28063628;28218747;28228285;2842325;28832583;29242379;29393594;29437277;29493099;29557506;29632046;29769354;3004351;30315122;30779550;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32855967;32938616;33043033;33691108;35561310;36284347;37543966;37762224;7378348;7700386;7711022;7713898;7876218;8078911;8104944;8128251;8131753;8144677;8505312;8658138;8751446;8805365;8954124;9081985;9099749;9191022;9214649;9294177;9428522;9430682;9469823;9649448;9660172;9677427;9699634;9716411;9780000;9822671;9822680;9875289;9882630", "class_list": "", "function": "As a component of the tetrameric DNA polymerase delta complex (Pol-delta4), plays a role in high fidelity genome replication and repair. Within this complex, increases the rate of DNA synthesis and decreases fidelity by regulating POLD1 polymerase and proofreading 3' to 5' exonuclease activity (PubMed:16510448, PubMed:19074196, PubMed:20334433). Pol-delta4 participates in Okazaki fragment processing, through both the short flap pathway, as well as a nick translation system (PubMed:24035200). Under conditions of DNA replication stress, required for the repair of broken replication forks through break-induced replication (BIR), a mechanism that may induce segmental genomic duplications of up to 200 kb (PubMed:24310611). Involved in Pol-delta4 translesion synthesis (TLS) of templates carrying O6-methylguanine or abasic sites (PubMed:19074196). Its degradation in response to DNA damage is required for the inhibition of fork progression and cell survival (PubMed:24022480)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Circular RNA circ_0026359 Enhances Cisplatin Resistance in Gastric Cancer via Targeting miR-1200/POLD4 Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Expression Profile, Molecular Association, and Clinical Significance of POLD4 in Glioblastoma., [RefSeq, PubMed]; POLD4 Promotes Glioma Cell Proliferation and Suppressive Immune Microenvironment: A Pan-Cancer Analysis Integrated with Experimental Validation. Publication Status: Online-Only, [RefSeq, PubMed]; The DNA polymerase delta enzyme, as well as the isolated p12 subunit, stimulates the DNA helicase activity of Bloom's syndrome helicase., [RefSeq, PubMed]; This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "F5H506", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0043625 delta DNA polymerase complex;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000731 DNA synthesis involved in DNA repair;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "Q9HCU8-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L5Y6-1", "uniprot_id": [ { "id": "DET1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L5Y6", "type": "external" } ], "mass": 63848.0, "length": 550, "protein_name": "DET1 homolog", "gene_name": "DET1", "organism": "Human", "refseq_name": "DET1 homolog isoform 2", "refseq_ac": [ { "id": "NP_001137546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137546", "type": "external" } ], "gene_names_uniprotkb": "DET1", "gene_names_refseq": "DET1", "protein_names_uniprotkb": "DET1 homolog; De-etiolated-1 homolog", "protein_names_refseq": "DET1 homolog isoform 2; DET1 homolog; DET1, COP1 ubiquitin ligase partner; de-etiolated homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55070); (R-HSA-983168)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;14739464;15224091;15224092;15571818;16595681;16849449;16954532;17452440;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;26992070;29360641;30429286;30833945;31848261;32157095;32161166;32897882;34171305;34561969;35561310;37217939;37938771;9380723;9668046", "class_list": "", "function": "COP1/DET1/ETS axis regulates ERK transcriptome and sensitivity to MAPK inhibitors., [RefSeq, PubMed]; Component of the E3 ubiquitin ligase DCX DET1-COP1 complex, which is required for ubiquitination and subsequent degradation of target proteins. The complex is involved in JUN ubiquitination and degradation., [UniProtKB, PubMed]; Promotes ubiquitination and degradation of c-Jun by assembling a multisubunit ubiquitin ligase containing DNA Damage Binding Protein-1 (DDB1), cullin 4A (CUL4A), Regulator of Cullins-1 (ROC1), and constitutively photomorphogenic-1, [RefSeq, PubMed]; These findings demonstrate that the conserved DET1 complex modulates Cul4A functions by a novel mechanism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B3KNN6;Q2VPC0;Q9NWD5", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0044877 protein-containing complex binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0005634 nucleus;GO:0031461 cullin-RING ubiquitin ligase complex;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q7L5Y6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q80-1", "uniprot_id": [ { "id": "DERL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q80", "type": "external" } ], "mass": 26679.0, "length": 235, "protein_name": "Derlin-3", "gene_name": "DERL3", "organism": "Human", "refseq_name": "derlin-3 isoform 2", "refseq_ac": [ { "id": "NP_001002862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002862", "type": "external" } ], "gene_names_uniprotkb": "DERL3; C22orf14; DER3; LLN2", "gene_names_refseq": "C22orf14; DERL3; IZP6; LLN2; derlin-3", "protein_names_uniprotkb": "Derlin-3; DERtrin-3; Degradation in endoplasmic reticulum protein 3; Der1-like protein 3", "protein_names_refseq": "DERtrin 3; Der1-like domain family, member 3; degradation in endoplasmic reticulum protein 3; der1-like protein 3; derlin-3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:91319); (R-HSA-382556); (R-HSA-5678895); (R-HSA-9931269)", "pathway_count": 4, "publication_count": 119, "publication_id_list": "10484077;10665657;10748049;11146634;11237011;11504826;11562789;11812794;12379217;12379510;12403779;12604685;1352877;1356264;1359686;1377674;14661924;15175422;15215855;15472518;15611333;15863492;15899824;16449189;16816140;16901789;1695717;17523162;17855752;17894550;17977821;18282684;18434309;18477386;18716059;19002207;19447222;19570978;1968359;19862647;1998343;20583968;20621639;21083385;2135388;21652558;22016385;22047557;2210768;22178883;22318583;2236053;22607976;23063411;23481700;24019521;24685677;24715725;2475911;25133187;25505266;25576301;25584290;2570070;2570460;25892735;26208431;26375851;26565908;26992070;27846572;27920218;28132103;28218747;28713959;28832583;28904123;2898143;29055231;29242379;29437277;29557506;29769354;29786170;30118680;30315122;30334692;30334693;30410026;31154438;31217245;31679946;31844290;31848261;31862624;32157095;32866644;32897882;32981041;33298915;33912179;34561969;3457471;3472246;35051231;35154160;35318648;35580925;36241641;36284347;36372158;7523390;7529176;7553863;7553864;7865904;9652413;9816258;9831708", "class_list": "", "function": "DERL3 is both a tumor suppressor of and a methylation biomarker for gastric cancer., [RefSeq, PubMed]; DERL3 promotes malignant phenotype in BC cells., [RefSeq, PubMed]; Findings indicate that Derlin-3 provides the missing link between EDEM and p97 in the process of degrading misfolded glycoproteins., [RefSeq, PubMed]; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins (PubMed:16449189, PubMed:22607976). May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908)., [UniProtKB, PubMed, PubMed, PubMed]; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. May act by forming a channel that allows the retrotranslocation of misfolded proteins into the cytosol where they are ubiquitinated and degraded by the proteasome., [UniProtKB, UniProtKB]; Repression of DERL3 via DNA methylation by Epstein-Barr virus latent membrane protein 1 in nasopharyngeal carcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]; Up-regulated DERL3 in fibroblast-like synoviocytes exacerbates inflammation of rheumatoid arthritis., [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": "F2Z3B6;Q6ICJ6;Q6PEX0;Q6ZUB5", "ec_number_list": [], "go_molecular_function": "GO:0005047 signal recognition particle binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006487 protein N-linked glycosylation;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0036503 ERAD pathway;GO:1904153 negative regulation of retrograde protein transport, ER to cytosol", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q96Q80-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54098-1", "uniprot_id": [ { "id": "DPOG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54098", "type": "external" } ], "mass": 139562.0, "length": 1239, "protein_name": "DNA polymerase subunit gamma-1", "gene_name": "POLG", "organism": "Human", "refseq_name": "DNA polymerase subunit gamma-1", "refseq_ac": [ { "id": "NP_001119603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119603", "type": "external" } ], "gene_names_uniprotkb": "POLG; MDP1; POLG1; POLGA", "gene_names_refseq": "MIRAS; MTDPS4A; MTDPS4B; PEO; POLG1; POLGA; POLG; PolG-alpha; SANDO; SCAE", "protein_names_uniprotkb": "DNA polymerase subunit gamma-1; 2.7.7.7; 3'-5' exodeoxyribonuclease; 3.1.11.-; 4.2.99.-; 5'-deoxyribose-phosphate lyase; Mitochondrial DNA polymerase catalytic subunit; PolG-alpha", "protein_names_refseq": "3'-5' exodeoxyribonuclease; 5'-deoxyribose-phosphate lyase; DNA polymerase subunit gamma-1; mitochondrial DNA polymerase catalytic subunit; mitochondrial polymerase gamma catalytic subunit; polymerase (DNA directed), gamma; polymerase (DNA) gamma, catalytic subunit", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); cerebellar ataxia (Disease Ontology:DOID:0050753); myelodysplastic syndrome (Disease Ontology:DOID:0050908); Alpers-Huttenlocher syndrome (Disease Ontology:DOID:0080122); mitochondrial DNA depletion syndrome 4b (Disease Ontology:DOID:0080123); sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (Disease Ontology:DOID:0111276); autosomal dominant progressive external ophthalmoplegia 1 (Disease Ontology:DOID:0111521); autosomal recessive progressive external ophthalmoplegia 1 (Disease Ontology:DOID:0111522); premature menopause (Disease Ontology:DOID:10787); chronic progressive external ophthalmoplegia (Disease Ontology:DOID:12558); Parkinson's disease (Disease Ontology:DOID:14330); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); multiple sclerosis (Disease Ontology:DOID:2377); bipolar disorder (Disease Ontology:DOID:3312); mood disorder (Disease Ontology:DOID:3324); Leigh disease (Disease Ontology:DOID:3652); progeria (Disease Ontology:DOID:3911); primary ovarian insufficiency (Disease Ontology:DOID:5426); peripheral nervous system disease (Disease Ontology:DOID:574); hepatocellular carcinoma (Disease Ontology:DOID:684); mitochondrial metabolism disease (Disease Ontology:DOID:700); mitochondrial encephalomyopathy (Disease Ontology:DOID:890)", "pathway": " (hsa:5428); (R-HSA-9913635)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10497183;10608893;10677218;10827171;11237011;11431686;11477093;11477094;11504725;11897778;12210792;12565911;12707443;12825077;12872260;12975295;14635118;14694057;14745080;15122711;15167897;15189144;15349879;15351195;15477547;15534189;15689359;15824347;15917273;15929042;16080118;16401742;16621917;16634032;16639411;16919951;17420318;17846414;18063578;18187503;18575922;18685103;18828154;19307547;19837034;20400524;20445207;21301859;21953457;22000311;22383523;25129007;25505266;25635099;26056153;26095671;26253742;26942291;26992070;27220468;27226550;27920218;28218747;28228285;28514659;28904123;29242379;29290614;29290964;29437277;29557506;29786170;30102370;30247721;30256971;30315122;30379171;30410026;30484775;30552426;30605451;30949702;31217245;31844290;32161166;32357974;32387766;32488085;32938616;32983136;33091337;33847964;33855352;33912179;35051231;35561310;35819194;35947649;36010968;36528058;36744436;37013609;37202477;37592734;38570685;38787958;38904024;8884268;9034326;9558343;9770471", "class_list": "", "function": "Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation. Publication Status: Online-Only, [RefSeq, PubMed]; An interaction network in the polymerase active site is a prerequisite for Watson-Crick base pairing in Pol gamma., [RefSeq, PubMed]; Ancestral allele of DNA polymerase gamma modifies antiviral tolerance., [RefSeq, PubMed]; Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Replicates both heavy and light strands of the circular mtDNA genome using a single-stranded DNA template, RNA primers and the four deoxyribonucleoside triphosphates as substrates (PubMed:11477093, PubMed:11897778, PubMed:15917273, PubMed:19837034, PubMed:9558343). Has 5' -> 3' polymerase activity. Functionally interacts with TWNK and SSBP1 at the replication fork to form a highly processive replisome, where TWNK unwinds the double-stranded DNA template prior to replication and SSBP1 covers the parental heavy strand to enable continuous replication of the entire mitochondrial genome. A single nucleotide incorporation cycle includes binding of the incoming nucleotide at the insertion site, a phosphodiester bond formation reaction that extends the 3'-end of the primer DNA, and translocation of the primer terminus to the post-insertion site. After completing replication of a mtDNA strand, mediates 3' -> 5' exonucleolytic degradation at the nick to enable proper ligation (PubMed:11477093, PubMed:11897778, PubMed:15167897, PubMed:15917273, PubMed:19837034, PubMed:26095671, PubMed:9558343). Highly accurate due to high nucleotide selectivity and 3' -> 5' exonucleolytic proofreading. Proficiently corrects base substitutions, single-base additions and deletions in non-repetitive sequences and short repeats, but displays lower proofreading activity when replicating longer homopolymeric stretches. Exerts exonuclease activity toward single-stranded DNA and double-stranded DNA containing 3'-terminal mispairs. When a misincorporation occurs, transitions from replication to a pro-nucleolytic editing mode and removes the missincorporated nucleoside in the exonuclease active site. Proceeds via an SN2 nucleolytic mechanism in which Asp-198 catalyzes phosphodiester bond hydrolysis and Glu-200 stabilizes the leaving group. As a result the primer strand becomes one nucleotide shorter and is positioned in the post-insertion site, ready to resume DNA synthesis (PubMed:10827171, PubMed:11477094, PubMed:11504725, PubMed:37202477). Exerts 5'-deoxyribose phosphate (dRP) lyase activity and mediates repair-associated mtDNA synthesis (gap filling) in base-excision repair pathway. Catalyzes the release of the 5'-terminal 2-deoxyribose-5-phosphate sugar moiety from incised apurinic/apyrimidinic (AP) sites to produce a substrate for DNA ligase. The dRP lyase reaction does not require divalent metal ions and likely proceeds via a Schiff base intermediate in a beta-elimination reaction mechanism (PubMed:9770471)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 23, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NFM2;Q92515", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0051575 5'-deoxyribose-5-phosphate lyase activity;GO:0008310 single-stranded DNA 3'-5' DNA exonuclease activity;GO:0002020 protease binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0032991 protein-containing complex;GO:0000262 mitochondrial chromosome", "go_biological_process": "GO:0006287 base-excision repair, gap-filling;GO:0045004 DNA replication proofreading;GO:0006284 base-excision repair;GO:0006259 DNA metabolic process;GO:0006264 mitochondrial DNA replication", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P54098-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49916-1", "uniprot_id": [ { "id": "DNLI3_HUMAN", "url": "https://www.uniprot.org/uniprot/P49916", "type": "external" } ], "mass": 112907.0, "length": 1009, "protein_name": "DNA ligase 3", "gene_name": "LIG3", "organism": "Human", "refseq_name": "DNA ligase 3 isoform beta precursor", "refseq_ac": [ { "id": "NP_002302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002302", "type": "external" } ], "gene_names_uniprotkb": "LIG3", "gene_names_refseq": "LIG2; LIG3alpha; LIG3; MTDPS20", "protein_names_uniprotkb": "DNA ligase 3; 6.5.1.1; DNA ligase III; Polydeoxyribonucleotide synthase [ATP] 3", "protein_names_refseq": "DNA ligase 3 isoform beta precursor; ligase II, DNA, ATP-dependent; ligase III, DNA, ATP-dependent; polydeoxyribonucleotide synthase [ATP] 3", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 20 (Disease Ontology:DOID:0070451); pancreatic cancer (Disease Ontology:DOID:1793); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:3980); (R-HSA-110381); (R-HSA-5649702); (R-HSA-5685939); (R-HSA-5696397); (R-HSA-6782210)", "pathway_count": 6, "publication_count": 116, "publication_id_list": "10207110;11163244;11237011;11281714;11340072;11440997;11904416;12097317;15135726;15260972;15288782;15561706;16012167;16959974;16964243;16982218;17040896;17081983;17118717;17322306;18452278;18669648;18767875;19279666;19336415;19357644;19413330;19615748;19651622;19664995;20058876;20068230;20068231;20227374;20483915;20518483;20647759;20843780;21282463;21406692;21652643;21816818;23186163;23481700;24366607;24674627;24715725;25201414;25642960;25642963;25643323;25645385;25789972;25880248;26992070;27600516;27920218;28228285;28510447;28514659;28832583;28904123;29133916;29242379;29393594;29485866;29508533;29557506;29632046;29786170;30315122;30379171;30410026;31154438;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33465208;33592498;33691108;33855352;33936100;33968037;34019948;34087483;34165507;34171305;34239347;34405274;34509645;34561969;34616022;35051231;35138101;36010968;36241641;36625284;36988399;37938771;39302247;40596516;7565692;7760816;8003475;8978692;9214649;9875289", "class_list": "", "function": "Human DNA ligases I and III have stand-alone end-joining capability, but differ in ligation efficiency and specificity., [RefSeq, PubMed]; Isoform 3 functions as a heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as a DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627)., [UniProtKB, PubMed, PubMed]; Rac GTPase activating protein 1 promotes gallbladder cancer via binding DNA ligase 3 to reduce apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Toxicity and therapy outcome associations in LIG3, SLCO1B3, ABCB1, OPRM1 and GSTP1 in high-grade serous ovarian cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 12, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "E5KLB5;E5KLB6;Q16714;Q6NVK3", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003909 DNA ligase activity;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0003910 DNA ligase (ATP) activity", "go_cellular_component": "GO:0070421 DNA ligase III-XRCC1 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006273 lagging strand elongation;GO:0097681 double-strand break repair via alternative nonhomologous end joining;GO:0006287 base-excision repair, gap-filling;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P49916-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TEA3-1", "uniprot_id": [ { "id": "DAAF9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TEA3", "type": "external" } ], "mass": 132287.0, "length": 1177, "protein_name": "Dynein axonemal assembly factor 9", "gene_name": "DNAAF9", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 9", "refseq_ac": [ { "id": "NP_001009984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009984", "type": "external" } ], "gene_names_uniprotkb": "DNAAF9; C20orf194", "gene_names_refseq": "C20orf194; DNAAF9", "protein_names_uniprotkb": "Dynein axonemal assembly factor 9; DNAAF9; Shulin", "protein_names_refseq": "dynein axonemal assembly factor 9; shulin; uncharacterized protein C20orf194", "tax_id": 9606, "disease": "", "pathway": " (hsa:25943)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "18669648;21683323;22085962;26992070;27862975;29557506;30410026;30429286;30451992;32157095;32387766;32502341;32938616;32983136;33392160;33592498;33632841;33912179;33968037;33981976;34171305;34405274;35051231;35318648;35580925;36241641;37938771;39894887", "class_list": "", "function": "Dynein axonemal assembly factor that regulates the transport and activation of ciliary outer dynein arms (ODAs), which are the main force generators in cilia (PubMed:33632841). Essential for cilia movement and motility (PubMed:33632841). Inhibits dyneins by reducing the affinity of ODAs for microtubules and hence inactivating the dyneins in the cytoplasm; the inhibition is relieved once dyneins enter the cilia (By similarity). May act as an effector for ARL3 (PubMed:22085962)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "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": "Q66K86;Q6P2R9;Q9UFX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q5TEA3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYI0-1", "uniprot_id": [ { "id": "SHLD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYI0", "type": "external" } ], "mass": 22938.0, "length": 205, "protein_name": "Shieldin complex subunit 1", "gene_name": "SHLD1", "organism": "Human", "refseq_name": "shieldin complex subunit 1 isoform 1", "refseq_ac": [ { "id": "NP_001290406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290406", "type": "external" } ], "gene_names_uniprotkb": "SHLD1; C20orf196; RINN3", "gene_names_refseq": "C20orf196; RINN3; SHLD1", "protein_names_uniprotkb": "Shieldin complex subunit 1; RINN1-REV7-interacting novel NHEJ regulator 3; Shield complex subunit 1", "protein_names_refseq": "RINN1-REV7-interacting novel NHEJ regulator 3; shield complex subunit 1; shieldin complex subunit 1 isoform 1; uncharacterized protein C20orf196", "tax_id": 9606, "disease": "", "pathway": " (hsa:149840)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;23481700;24715725;25576301;25645385;26154972;26811146;26992070;27846572;27920218;28218747;28228285;28832583;29242379;29393594;29437277;29557506;29656893;29789417;30315122;30410026;31154438;31844290;31937595;31998317;32157095;32357974;32502341;33123756;33141586;33298915;33392160;33592498;33912179;33936100;34211107;34260925;34354233;34357683;34521823;34932366;35580925;36284347", "class_list": "", "function": "Component of the shieldin complex, which plays an important role in repair of DNA double-stranded breaks (DSBs). 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. Mediates various NHEJ-dependent processes including immunoglobulin class-switch recombination, and fusion of unprotected telomeres., [UniProtKB, PubMed]; MAD2L2 dimerization and TRIP13 control shieldin activity in DNA repair. Publication Status: Online-Only, [RefSeq, PubMed]; Protein phosphatase 1 acts as a RIF1 effector to suppress DSB resection prior to Shieldin action., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A8K9J3;Q5TGA9;Q96LU1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000785 chromatin;GO:0035861 site of double-strand break;GO:0005694 chromosome", "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:0006281 DNA repair;GO:0045830 positive regulation of isotype switching", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q8IYI0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUE5-1", "uniprot_id": [ { "id": "CT55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUE5", "type": "external" } ], "mass": 29052.0, "length": 264, "protein_name": "Cancer/testis antigen 55", "gene_name": "CT55", "organism": "Human", "refseq_name": "cancer/testis antigen 55 isoform 1", "refseq_ac": [ { "id": "NP_001026875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026875", "type": "external" } ], "gene_names_uniprotkb": "CT55; CXorf48", "gene_names_refseq": "BJHCC20A; CT55; CXorf48; SPGFX7", "protein_names_uniprotkb": "Cancer/testis antigen 55; Tumor antigen BJ-HCC-20", "protein_names_refseq": "BRCA2-interacting protein; cancer/testis antigen 55 isoform 1; tumor antigen BJ-HCC-20", "tax_id": 9606, "disease": "X-linked spermatogenic failure 7 (Disease Ontology:DOID:0070598)", "pathway": " (hsa:54967)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "15499386;18307534;24714562;25645385;28862699;32938616;33023190;36481789", "class_list": "", "function": "A novel BRCA2-interacting protein, BJ-HCC-20A, which is reported to be a potential cancer-testis antigen, was identified., [RefSeq, PubMed]; Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice., [RefSeq, PubMed]; Plays a role in spermatogenesis, possibly acting in the regulation of the autophagy pathway., [UniProtKB, PubMed]; The relapse rate of CXorf48-specific CTL-negative patients was 63.6%, compared to 0% in CXorf48-specific CTL-positive patients. These results indicate that CXorf48 could be a promising therapeutic target of LSCs for immunotherapy to obtain durable treatment-free remission in CML patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NWY8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8WUE5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYN3-1", "uniprot_id": [ { "id": "CSRN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYN3", "type": "external" } ], "mass": 64900.0, "length": 585, "protein_name": "Cysteine/serine-rich nuclear protein 3", "gene_name": "CSRNP3", "organism": "Human", "refseq_name": "cysteine/serine-rich nuclear protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001165644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165644", "type": "external" } ], "gene_names_uniprotkb": "CSRNP3; FAM130A2; TAIP2", "gene_names_refseq": "CSRNP3; FAM130A2; MBU1; PPP1R73; TAIP-2; TAIP2", "protein_names_uniprotkb": "Cysteine/serine-rich nuclear protein 3; CSRNP-3; Protein FAM130A2; TAIP-2; TGF-beta-induced apoptosis protein 2", "protein_names_refseq": "TGF-beta induced apoptosis protein 2; cysteine/serine-rich nuclear protein 3 isoform 1; cysteine/serine-rich nuclear protein 3; family with sequence similarity 130, member A2; protein phosphatase 1, regulatory subunit 73", "tax_id": 9606, "disease": "", "pathway": " (hsa:80034)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;16959974;19401682;20468071;25892735;27893789;29485866;29769354", "class_list": "", "function": "Binds to the consensus sequence 5'-AGAGTG-3' and has transcriptional activator activity. Plays a role in apoptosis (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPR4;Q53SG0;Q6ZTX3;Q9HAF9", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043065 positive regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8WYN3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NSK7-4", "uniprot_id": [ { "id": "CS012_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NSK7", "type": "external" } ], "mass": 15007.0, "length": 141, "protein_name": "Protein C19orf12", "gene_name": "C19orf12", "organism": "Human", "refseq_name": "protein C19orf12 isoform 3", "refseq_ac": [ { "id": "NP_001242975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242975", "type": "external" } ], "gene_names_uniprotkb": "C19orf12", "gene_names_refseq": "C19orf12; MPAN; NBIA3; NBIA4; SPG43", "protein_names_uniprotkb": "Protein C19orf12", "protein_names_refseq": "membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation 3; protein C19orf12 isoform 3; protein C19orf12", "tax_id": 9606, "disease": "neurodegeneration with brain iron accumulation 4 (Disease Ontology:DOID:0110738); hereditary spastic paraplegia 43 (Disease Ontology:DOID:0110795)", "pathway": " (hsa:83636)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "21981780;22508347;22584950;22704260;23269600;23278385;23481700;23521069;23857908;25592411;26136767;26187298;28832583;29393594;36863113;37004026;38565923", "class_list": "", "function": "A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone. Publication Status: Online-Only, [RefSeq, PubMed]; A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration., [RefSeq, PubMed]; Adipocyte protein localized at lipid droplet-mitochondria contact sites that governs lipid storage through regulation of mitochondrial fatty acid metabolism., [UniProtKB, PubMed]; Orphan mitochondrial protein c19orf12 absence causes a distinct clinical subtype of neurodegeneration with brain iron accumulation, [RefSeq, PubMed]; Sequence analysis of C19orf12 revealed a novel mutation, p.Gly66del, in patients with neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis., [RefSeq, PubMed]; This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ16;Q0D2Q0;Q6P4C5;Q9BSL7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0006915 apoptotic process;GO:0006914 autophagy;GO:0051560 mitochondrial calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9NSK7-4", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P021-1", "uniprot_id": [ { "id": "CRIPT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P021", "type": "external" } ], "mass": 11216.0, "length": 101, "protein_name": "Cysteine-rich PDZ-binding protein", "gene_name": "CRIPT", "organism": "Human", "refseq_name": "cysteine-rich PDZ-binding protein", "refseq_ac": [ { "id": "NP_054890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054890", "type": "external" } ], "gene_names_uniprotkb": "CRIPT; HSPC139", "gene_names_refseq": "CRIPT; HSPC139; RTS3; SSMDF", "protein_names_uniprotkb": "Cysteine-rich PDZ-binding protein; Cysteine-rich interactor of PDZ three; Cysteine-rich interactor of PDZ3", "protein_names_refseq": "cysteine-rich PDZ-binding protein; cysteine-rich interactor of PDZ three; cysteine-rich interactor of PDZ3; postsynaptic protein CRIPT", "tax_id": 9606, "disease": "Rothmund-Thomson syndrome (Disease Ontology:DOID:2732); Rothmund-Thomson syndrome type 3 (MONDO:MONDO:0014347)", "pathway": " (hsa:9419)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;17474715;17697703;24389050;25418920;25576301;26811146;26992070;27250922;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29632046;29786170;30315122;30429286;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32265295;32387766;32983136;33509932;33633747;33912179;35051231;35318648;35561310;35580925;36148798;36284347;37013901", "class_list": "", "function": "As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). Involved in the cytoskeletal anchoring of DLG4 in excitatory synapses (By similarity)., [UniProtKB, UniProtKB, PubMed]; Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence., [RefSeq, PubMed]; Mitotic spindle disassembly in human cells relies on CRIPT having hierarchical redox signals., [RefSeq, PubMed]; This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0044877 protein-containing complex binding;GO:0030165 PDZ domain binding;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0031122 cytoplasmic microtubule organization;GO:1902897 regulation of postsynaptic density protein 95 clustering;GO:0035372 protein localization to microtubule;GO:0099151 regulation of postsynaptic density assembly", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9P021-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2S2-1", "uniprot_id": [ { "id": "CRYL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2S2", "type": "external" } ], "mass": 35419.0, "length": 319, "protein_name": "Lambda-crystallin homolog", "gene_name": "CRYL1", "organism": "Human", "refseq_name": "lambda-crystallin homolog isoform 1", "refseq_ac": [ { "id": "NP_057058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057058", "type": "external" } ], "gene_names_uniprotkb": "CRYL1; CRY", "gene_names_refseq": "CRYL1; GDH; HEL30; gul3DH; lambda-CRY", "protein_names_uniprotkb": "Lambda-crystallin homolog; 1.1.1.45; Gul3DH; L-gulonate 3-dehydrogenase", "protein_names_refseq": "L-3-aldonate dehydrogenase; L-gulonate 3-dehydrogenase; crystallin, lamda 1; epididymis luminal protein 30; lambda-crystallin homolog isoform 1; lambda-crystallin homolog; testicular tissue protein Li 44", "tax_id": 9606, "disease": "", "pathway": " (hsa:51084); (R-HSA-5661270)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11237011;11882650;12527201;12962626;15103634;15809331;22042873;22424782;23179721;24275569;25645385;25880248;26154972;2691249;27600516;27862975;28489570;28832583;28904123;29242379;29493099;29557506;29786170;30315122;30379171;30429286;31154438;3170592;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33592498;3365415;33912179;33968037;33981976;34185709;34509645;35051231;35580925;36010968;37683890;40737316;4392213;7669785;8487505;8722620", "class_list": "", "function": "Catalyzes the conversion of L-gulonate to 3-dehydro-L-gulonate (PubMed:15809331, PubMed:40737316). It also exhibits low dehydrogenase activity toward L-3-hydroxybutyrate (HBA) and L-threonate (PubMed:15809331). Utilizes NAD as the sole cosubstrate and shows no activity with NADP (PubMed:40737316)., [UniProtKB, PubMed, PubMed]; Data suggest that the function of the fusion transcript crystallin, lambda 1 protein - intraflagellar transport 88 (CRYL1-IFT88) is closed to CRYL1 because it contained most of domain of CRYL1., [RefSeq, PubMed]; Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment., [RefSeq, PubMed]; Rabbit lambda-crystallin constitutes 7-8% of total lens protein, [RefSeq, PubMed]; The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [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": 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": "A0PJ43;B3KN92;Q0VDI1;Q7Z4Z9;Q9P0G7", "ec_number_list": [ { "id": "1.1.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.45", "type": "external" } ], "go_molecular_function": "GO:0050104 L-gulonate 3-dehydrogenase activity;GO:0042803 protein homodimerization activity;GO:0070403 NAD+ binding;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0019640 D-glucuronate catabolic process to D-xylulose 5-phosphate", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9Y2S2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4K1-3", "uniprot_id": [ { "id": "CRBG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4K1", "type": "external" } ], "mass": 231708.0, "length": 2131, "protein_name": "Beta/gamma crystallin domain-containing protein 1", "gene_name": "CRYBG1", "organism": "Human", "refseq_name": "beta/gamma crystallin domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001615", "type": "external" } ], "gene_names_uniprotkb": "CRYBG1; AIM1", "gene_names_refseq": "AIM1; CRYBG1; ST4", "protein_names_uniprotkb": "Beta/gamma crystallin domain-containing protein 1; Absent in melanoma 1 protein", "protein_names_refseq": "absent in melanoma 1 protein; beta-gamma crystallin domain containing 1; beta/gamma crystallin domain-containing protein 1 isoform 2; beta/gamma crystallin domain-containing protein 1; suppression of tumorigenicity 4 (malignant melanoma)", "tax_id": 9606, "disease": "", "pathway": " (hsa:202)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;16362076;18582473;18991276;19690332;22127895;22402438;22761906;23186163;24094292;24275569;27378818;30315122;30779550;31154438;31222486;31530632;31848261;31998317;33043033;8760827;9096375", "class_list": "glycogene", "function": "AIM1 promoter hypermethylation was found in higher frequency (P = 0.005) in metastatic melanoma (65%) than in primary melanomas (38%)., [RefSeq, PubMed]; AIM1, ERGIC1, and TPX2 were shown to be highly expressed especially in prostate cancer tissues, and high mRNA expression of ERGIC1 and TMED3 associated with AR and ERG oncogene expression, [RefSeq, PubMed]; Both DNMT1 and AIM1 show maternal allele-specific methylation and paternal allele-specific transcription. Publication Status: Online-Only, [RefSeq, PubMed]; May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton., [UniProtKB]; Methylation status of AIM1 in the prostate cancer specimen may predict for time to recurrence in Gleason 3 + 4 = 7 patients undergoing prostatectomy., [RefSeq, PubMed]; Single-molecule Force Spectroscopy Reveals the Calcium Dependence of the Alternative Conformations in the Native State of a betagamma-Crystallin 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": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2263, "reported_interactions": 0, "missing_score": 9859, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0J9YWL0;B4DU04;O00296;Q5VWJ2", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9Y4K1-3", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PJE2-1", "uniprot_id": [ { "id": "DHR12_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PJE2", "type": "external" } ], "mass": 35146.0, "length": 317, "protein_name": "Dehydrogenase/reductase SDR family member 12", "gene_name": "DHRS12", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 12 isoform 1", "refseq_ac": [ { "id": "NP_001026889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026889", "type": "external" } ], "gene_names_uniprotkb": "DHRS12; SDR40C1", "gene_names_refseq": "DHRS12; SDR40C1", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 12; 1.1.-.-; Protein SDR40C1; Short-chain dehydrogenase/reductase family 40C member 1", "protein_names_refseq": "dehydrogenase/reductase (SDR family) member 12; dehydrogenase/reductase SDR family member 12 isoform 1; short-chain dehydrogenase/reductase family 40C member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79758)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;19027726;23481700;25576301;25880248;26992070;27543614;28832583;28834231;28904123;29242379;29508533;29557506;30524438;31154438;31844290;32157095;32250163;32387766;32897882;32938616;33141586;33298915;33912179;33936100;33968037;34509645;35051231;35580925;36089080;36241641;36284347", "class_list": "", "function": "DHRS12 inhibits the proliferation and metastasis of osteosarcoma via Wnt3a/beta-catenin pathway., [RefSeq, PubMed]; Genetic architecture of asthma in African American patients., [RefSeq, PubMed]; Putative oxidoreductase., [UniProtKB]; This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q96GB2;Q9H8H1", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "A0PJE2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNA5-1", "uniprot_id": [ { "id": "DRGX_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNA5", "type": "external" } ], "mass": 28672.0, "length": 263, "protein_name": "Dorsal root ganglia homeobox protein", "gene_name": "DRGX", "organism": "Human", "refseq_name": "dorsal root ganglia homeobox protein", "refseq_ac": [ { "id": "NP_001263380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263380", "type": "external" } ], "gene_names_uniprotkb": "DRGX; PRRXL1", "gene_names_refseq": "DRG11; DRGX; PRRXL1", "protein_names_uniprotkb": "Dorsal root ganglia homeobox protein; Paired-related homeobox protein-like 1", "protein_names_refseq": "dorsal root ganglia homeobox protein; paired related homeobox-like 1; paired-like homeodomain trancription factor DRG11", "tax_id": 9606, "disease": "", "pathway": " (hsa:644168)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "32387766;35580925;35705054", "class_list": "", "function": "Transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NNA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07864-1", "uniprot_id": [ { "id": "DPOE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07864", "type": "external" } ], "mass": 261518.0, "length": 2286, "protein_name": "DNA polymerase epsilon catalytic subunit A", "gene_name": "POLE", "organism": "Human", "refseq_name": "DNA polymerase epsilon catalytic subunit A", "refseq_ac": [ { "id": "NP_006222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006222", "type": "external" } ], "gene_names_uniprotkb": "POLE; POLE1", "gene_names_refseq": "CRCS12; FILS; IMAGEI; POLE1; POLE", "protein_names_uniprotkb": "DNA polymerase epsilon catalytic subunit A; 2.7.7.7; 3'-5' exodeoxyribonuclease; 3.1.11.-; DNA polymerase II subunit A", "protein_names_refseq": "3'-5' exodeoxyribonuclease; DNA polymerase II subunit A; DNA polymerase epsilon catalytic subunit A; DNA polymerase epsilon catalytic subunit protein; polymerase (DNA directed), epsilon, catalytic subunit; polymerase (DNA) epsilon, catalytic subunit", "tax_id": 9606, "disease": "mismatch repair cancer syndrome (Disease Ontology:DOID:0112182); duodenum cancer (Disease Ontology:DOID:10021); prostate cancer (Disease Ontology:DOID:10283); lung cancer (Disease Ontology:DOID:1324); endometrial cancer (Disease Ontology:DOID:1380); cancer (Disease Ontology:DOID:162); ascending colon cancer (Disease Ontology:DOID:218); ovarian cancer (Disease Ontology:DOID:2394); kidney cancer (Disease Ontology:DOID:263); endometrial carcinoma (Disease Ontology:DOID:2871); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); anaplastic astrocytoma (Disease Ontology:DOID:3078); breast carcinoma (Disease Ontology:DOID:3459); liver cancer (Disease Ontology:DOID:3571); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); pleomorphic xanthoastrocytoma (Disease Ontology:DOID:4852); endometrial serous adenocarcinoma (Disease Ontology:DOID:5750); colorectal cancer (Disease Ontology:DOID:9256); colorectal cancer, susceptibility to, 12 (MONDO:MONDO:0014038); facial dysmorphism-immunodeficiency-livedo-short stature syndrome (MONDO:MONDO:0014058); intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency (MONDO:MONDO:0032684)", "pathway": " (hsa:5426); (R-HSA-110314); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-68952); (R-HSA-68962)", "pathway_count": 12, "publication_count": 198, "publication_id_list": "10373557;10460157;10518787;10523313;10559261;10744741;10757793;10801132;10801849;10846177;10856253;10882098;10959839;10984059;11006276;11095689;11125146;11237011;11250913;11395493;11601988;11687589;11698410;12045100;12200445;12226657;12444249;14500819;14517266;15199127;15590680;15916957;16246722;16337601;16464020;16531995;17000769;17043239;17466625;17466626;17525332;17720710;17948053;18079701;18342608;18691976;19074197;19153606;19223468;19279666;19940136;19941829;20068231;20129063;20227374;21143968;21282463;21628590;21872626;21993680;22081108;22544926;22645359;22700975;22859295;22952233;23000965;23143872;23186163;23230001;23263490;23481700;23593430;23686288;23731732;24366607;24402227;24449906;24485656;24501277;24715725;24768535;25231993;25418920;25505266;25576301;25645385;25860647;25880248;25892735;26024233;26154972;26375851;26728094;26811146;26992070;27573199;27600516;27612425;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30410026;30484775;30503519;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34093574;34171305;34185709;34211107;34357683;34509645;34561969;34694004;34700328;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38219146;38231514;38238314;38282550;6094569;6693436;7700386;8078911;8486689;8658138;8751446;9214649;9649448;9660782;9699634;9716411;9780000;9875289", "class_list": "", "function": "Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication origins and moves along DNA with the replication fork (By similarity). Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). Involved in DNA synthesis during DNA repair (PubMed:20227374, PubMed:27573199). Along with DNA polymerase POLD1 and DNA polymerase POLK, has a role in excision repair (NER) synthesis following UV irradiation (PubMed:20227374)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; DNA polymerase II participates in chromosomal DNA replication., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; DNA polymerase epsilon and delta variants drive mutagenesis in polypurine tracts in human tumors., [RefSeq, PubMed]; Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity. Erratum:[Cancer Res Commun. 2024 May 31;4(5):1398. doi: 10.1158/2767-9764.CRC-24-0280. PMID: 38819318], [RefSeq, PubMed]; Race, Prevalence of POLE and POLD1 Alterations, and Survival Among Patients With Endometrial Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The P286R mutation of DNA polymerase epsilon activates cancer-cell-intrinsic immunity and suppresses endometrial tumorigenesis via the cGAS-STING pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 159, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 24, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q13533;Q86VH9", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0008310 single-stranded DNA 3'-5' DNA exonuclease activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0008622 epsilon DNA polymerase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006272 leading strand elongation;GO:0006297 nucleotide-excision repair, DNA gap filling;GO:0006287 base-excision repair, gap-filling;GO:0045004 DNA replication proofreading;GO:0000278 mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q07864-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43583-1", "uniprot_id": [ { "id": "DENR_HUMAN", "url": "https://www.uniprot.org/uniprot/O43583", "type": "external" } ], "mass": 22092.0, "length": 198, "protein_name": "Density-regulated protein", "gene_name": "DENR", "organism": "Human", "refseq_name": "density-regulated protein", "refseq_ac": [ { "id": "NP_003668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003668", "type": "external" } ], "gene_names_uniprotkb": "DENR; DRP1; H14", "gene_names_refseq": "DENR; DRP1; DRP; SMAP-3", "protein_names_uniprotkb": "Density-regulated protein; DRP; Protein DRP1; SMAP-3; Smooth muscle cell-associated protein 3", "protein_names_refseq": "density-regulated protein; smooth muscle cell associated protein-3", "tax_id": 9606, "disease": "withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:8562)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10497265;11237011;16982740;17081983;17287340;17322306;17878526;18452278;18510355;18669648;19413330;19651622;19690332;20068231;20230923;20713520;21406692;22223895;23186163;23301498;24275569;25645385;26375851;26992070;28228285;28514659;28832583;29242379;29493099;29508533;29557506;29786170;31844290;31848261;32157095;32161166;32357974;33214551;33592498;33968037;34019948;34561969;35051231;35115540;35580925;37875108;38433101;38665916;9628587", "class_list": "", "function": "Cyclin B/CDK1 and Cyclin A/CDK2 phosphorylate DENR to promote mitotic protein translation and faithful cell division. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]., [RefSeq]; To initiate or not to initiate: A critical assessment of eIF2A, eIF2D, and MCT-1.DENR to deliver initiator tRNA to ribosomes. Review article, [RefSeq, PubMed]; Translation regulator forming a complex with MCTS1 to promote translation reinitiation. Translation reinitiation is the process where the small ribosomal subunit remains attached to the mRNA following termination of translation of a regulatory upstream ORF (uORF), and resume scanning on the same mRNA molecule to initiate translation of a downstream ORF, usually the main ORF (mORF). The MCTS1/DENR complex is pivotal to two linked mechanisms essential for translation reinitiation. Firstly, the dissociation of deacylated tRNAs from post-termination 40S ribosomal complexes during ribosome recycling. Secondly, the recruitment in an EIF2-independent manner of aminoacylated initiator tRNA to P site of 40S ribosomes for a new round of translation. This regulatory mechanism governs the translation of more than 150 genes which translation reinitiation is MCTS1/DENR complex-dependent., [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": 6, "reported_mutagensis": 0, "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": "Q9H3U6;Q9UKZ0", "ec_number_list": [], "go_molecular_function": "GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0002188 translation reinitiation;GO:0032790 ribosome disassembly;GO:0075522 IRES-dependent viral translational initiation;GO:0001731 formation of translation preinitiation complex", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O43583-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H773-1", "uniprot_id": [ { "id": "DCTP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H773", "type": "external" } ], "mass": 18681.0, "length": 170, "protein_name": "dCTP pyrophosphatase 1", "gene_name": "DCTPP1", "organism": "Human", "refseq_name": "dCTP pyrophosphatase 1", "refseq_ac": [ { "id": "NP_077001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077001", "type": "external" } ], "gene_names_uniprotkb": "DCTPP1; CDA03; XTP3TPA", "gene_names_refseq": "CDA03; DCTPP1; RS21C6; XTP3TPA", "protein_names_uniprotkb": "dCTP pyrophosphatase 1; 3.6.1.12; Deoxycytidine-triphosphatase 1; RS21C6; XTP3-transactivated gene A protein; dCTPase 1", "protein_names_refseq": "XTP3-transactivated gene A protein; XTP3-transactivated protein A; dCTP pyrophosphatase 1; dCTPase 1; deoxycytidine-triphosphatase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79077); (R-HSA-499943)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17287340;17320107;177353;17824959;18469;1851158;18635542;18669648;18691976;18997010;19176520;19220460;19415658;19766732;20058876;21080915;211388;211390;21671327;22847445;23186163;23301498;23416111;24467396;24714562;24715725;2542324;25645385;2656695;2668278;27600516;27846572;27862975;28228285;28832583;28904123;29557506;29632711;30484775;30779550;31154438;31222486;31373491;31530632;31844290;32488085;32502341;32716908;32897882;32938616;33141586;33298915;33392160;33592498;33717175;33936100;34087483;34171305;34357683;35051231;36241641;38686496;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "DCTPP1 has a central role in the balance of dCTP and the metabolism of deoxycytidine analogues., [RefSeq, PubMed]; Expression of human dCTP pyrophosphatase 1 (DCTPP1) and its association with cisplatin resistance characteristics in ovarian cancer., [RefSeq, PubMed]; Human dCTP pyrophosphatase 1 binds and is inhibited by the small molecule triptolide in vitro., [RefSeq, PubMed]; Hydrolyzes deoxynucleoside triphosphates (dNTPs) to the corresponding nucleoside monophosphates. Has a strong preference for dCTP and its analogs including 5-iodo-dCTP and 5-methyl-dCTP for which it may even have a higher efficiency. May protect DNA or RNA against the incorporation of these genotoxic nucleotide analogs through their catabolism., [UniProtKB, PubMed]; Silencing DSCAM-AS1 suppresses the growth and invasion of ER-positive breast cancer cells by downregulating both DCTPP1 and QPRT. Erratum:[Aging (Albany NY). 2022 Jan 15;14(1):528-529. doi: 10.18632/aging.203837. PMID: 35050859], [RefSeq, PubMed]; The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.12", "type": "external" } ], "go_molecular_function": "GO:0032556 pyrimidine deoxyribonucleotide binding;GO:0047840 dCTP diphosphatase activity;GO:0000287 magnesium ion binding;GO:0042802 identical protein binding;GO:0047429 nucleoside triphosphate diphosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006253 dCTP catabolic process;GO:0042262 DNA protection;GO:0009143 nucleoside triphosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9H773-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NNZ3-1", "uniprot_id": [ { "id": "DNJC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NNZ3", "type": "external" } ], "mass": 27593.0, "length": 241, "protein_name": "DnaJ homolog subfamily C member 4", "gene_name": "DNAJC4", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 4 isoform 1", "refseq_ac": [ { "id": "NP_001294909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294909", "type": "external" } ], "gene_names_uniprotkb": "DNAJC4; HSPF2; MCG18", "gene_names_refseq": "DANJC4; DNAJC4; HSPF2; MCG18", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 4; DnaJ-like protein HSPF2; Multiple endocrine neoplasia type 1 candidate protein number 18", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 4; dnaJ homolog subfamily C member 4 isoform 1; dnaJ homolog subfamily C member 4; dnaJ-like protein HSPF2; heat shock 40kD protein 2; multiple endocrine neoplasia type 1 candidate protein number 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:3338)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;19913121;20237496;20628086;20877624;25892735;26992070;27600516;28218747;28904123;29242379;29437277;29557506;29769354;29786170;30410026;31844290;31848261;32157095;32350084;32938616;33298915;33717175;35251023;35580925;9473517", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, 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": 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": "O14716", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006457 protein folding;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NNZ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28340-1", "uniprot_id": [ { "id": "DPOD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P28340", "type": "external" } ], "mass": 123631.0, "length": 1107, "protein_name": "DNA polymerase delta catalytic subunit", "gene_name": "POLD1", "organism": "Human", "refseq_name": "DNA polymerase delta catalytic subunit isoform 1", "refseq_ac": [ { "id": "NP_001243778", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243778", "type": "external" } ], "gene_names_uniprotkb": "POLD1; POLD", "gene_names_refseq": "CDC2; CRCS10; IMD120; MDPL; POLD1; POLD", "protein_names_uniprotkb": "DNA polymerase delta catalytic subunit; 2.7.7.7; 3'-5' exodeoxyribonuclease; 3.1.11.-; DNA polymerase subunit delta p125", "protein_names_refseq": "3'-5' exodeoxyribonuclease; CDC2 homolog; DNA polymerase delta catalytic subunit isoform 1; DNA polymerase subunit delta p125; polymerase (DNA directed), delta 1, catalytic subunit 125kDa; polymerase (DNA) delta 1, catalytic subunit", "tax_id": 9606, "disease": "immunodeficiency 120 (Disease Ontology:DOID:0061086); colorectal cancer (Disease Ontology:DOID:9256); colorectal cancer, susceptibility to, 10 (MONDO:MONDO:0012953); mandibular hypoplasia-deafness-progeroid syndrome (MONDO:MONDO:0014157)", "pathway": " (hsa:5424); (R-HSA-110314); (R-HSA-174411); (R-HSA-174414); (R-HSA-174417); (R-HSA-174437); (R-HSA-2564830); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183)", "pathway_count": 20, "publication_count": 280, "publication_id_list": "10078208;10329413;10460157;10473346;10559261;10608806;10656791;10656792;10660545;10744741;10751307;10801132;10856253;10938287;10959839;10984059;11005803;11006276;11237011;11250913;11274057;11328591;11441019;11473323;11595739;11601988;11687589;11698410;11724925;11809771;11809883;11884592;12200445;12226657;12403614;12444249;12522211;12766176;12930902;1328683;14517266;14636568;14676842;15007108;15066120;15199127;15225546;1542570;15590680;15670210;15916957;16143102;16188885;16246722;16337601;16464020;16510448;16531995;1671046;16793375;1682322;16855289;16873062;17000769;17043239;1722322;17317665;17426132;17466625;17466626;17512402;17531815;17720710;17948053;17984070;18079701;18326858;18342608;18446792;18573874;18593712;18625724;18669648;18701435;19074196;19074197;19153606;19223468;19228687;19279666;1974050;19940136;19941829;20068231;20129063;20154325;20160730;20227374;20334433;20551483;20571119;20713735;20802492;20970388;21143968;21282463;21496642;21561855;21628590;2165567;21937421;22081108;22118461;22179786;22277660;22460582;22678361;22678362;22700975;22801543;22859295;22952233;23000965;23065663;23143872;23150669;23263490;23391514;23481700;23593430;23604072;23622243;23686288;23731732;23770608;23840062;23891004;23913683;24022480;24035200;24038470;24115439;24129315;24191025;24310611;24366607;24397554;24402227;24449906;24485656;24501277;24714562;24715725;24768535;24939902;25023197;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27600516;27846572;27849570;27862975;27920218;28063628;28218747;28228285;2842325;28514659;28832583;28834231;28904123;29242379;29320706;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;3004351;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31449058;31530632;31629014;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34229054;34509645;34561969;34725712;34932366;35051231;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37938771;38231514;38423601;38658779;40914422;7378348;7700386;7711022;7713898;7876218;8078911;8104944;8128251;8131753;8144677;8505312;8658138;8751446;8805365;8954124;9081985;9099749;9191022;9214649;9294177;9428522;9430682;9469823;9649448;9660172;9677427;9699634;9716411;9780000;9822671;9822680;9875289;9882630", "class_list": "", "function": "As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200, PubMed:31449058). Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200). Requires the presence of accessory proteins POLD2, POLD3 and POLD4 for full activity. Depending upon the absence (Pol-delta3) or the presence of POLD4 (Pol-delta4), displays differences in catalytic activity. Most notably, expresses higher proofreading activity in the context of Pol-delta3 compared with that of Pol-delta4 (PubMed:19074196, PubMed:20334433). Although both Pol-delta3 and Pol-delta4 process Okazaki fragments in vitro, Pol-delta3 may be better suited to fulfill this task, exhibiting near-absence of strand displacement activity compared to Pol-delta4 and stalling on encounter with the 5'-blocking oligonucleotides. Pol-delta3 idling process may avoid the formation of a gap, while maintaining a nick that can be readily ligated (PubMed:24035200). Along with DNA polymerase kappa, DNA polymerase delta carries out approximately half of nucleotide excision repair (NER) synthesis following UV irradiation (PubMed:20227374). Under conditions of DNA replication stress, in the presence of POLD3 and POLD4, may catalyze the repair of broken replication forks through break-induced replication (BIR) (PubMed:24310611). Involved in the translesion synthesis (TLS) of templates carrying O6-methylguanine, 8oxoG or abasic sites (PubMed:19074196, PubMed:24191025)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Discovery of recessive effect of human polymerase delta proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells., [RefSeq, PubMed]; POLD1 Is Required for Cell Cycle Progression by Overcoming DNA Damage in Malignant Pleural Mesothelioma., [RefSeq, PubMed]; Race, Prevalence of POLE and POLD1 Alterations, and Survival Among Patients With Endometrial Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 67, "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": "Q8NER3;Q96H98", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0008296 3'-5'-DNA exonuclease activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0000109 nucleotide-excision repair complex;GO:0043625 delta DNA polymerase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006297 nucleotide-excision repair, DNA gap filling;GO:0006287 base-excision repair, gap-filling;GO:0045004 DNA replication proofreading;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "P28340-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43323-1", "uniprot_id": [ { "id": "DHH_HUMAN", "url": "https://www.uniprot.org/uniprot/O43323", "type": "external" } ], "mass": 43577.0, "length": 396, "protein_name": "Desert hedgehog protein", "gene_name": "DHH", "organism": "Human", "refseq_name": "desert hedgehog protein preproprotein", "refseq_ac": [ { "id": "NP_066382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066382", "type": "external" } ], "gene_names_uniprotkb": "DHH", "gene_names_refseq": "DHH; GDMN; GDXYM; HHG-3; SRXY7", "protein_names_uniprotkb": "Desert hedgehog protein; 3.1.-.-; DHH; HHG-3", "protein_names_refseq": "desert hedgehog protein preproprotein; desert hedgehog protein", "tax_id": 9606, "disease": "primary bacterial infectious disease (Disease Ontology:DOID:0050338); 46,XY gonadal dysgenesis with minifascicular neuropathy (Disease Ontology:DOID:0051055); COVID-19 (Disease Ontology:DOID:0080600); 46,XY sex reversal 7 (Disease Ontology:DOID:0111774); 46,XY complete gonadal dysgenesis (Disease Ontology:DOID:14448); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); cerebral infarction (Disease Ontology:DOID:3526); proteinuria (Disease Ontology:DOID:576); retinoblastoma (Disease Ontology:DOID:768)", "pathway": " (hsa:50846); (R-HSA-373080); (R-HSA-5358346); (R-HSA-5362798); (R-HSA-5632681); (R-HSA-5632684); (R-HSA-5635838); (R-HSA-5658034); (R-HSA-9690406)", "pathway_count": 9, "publication_count": 219, "publication_id_list": "10050855;10097073;10433824;10564661;10619433;10966113;10984056;11017805;11027307;11207191;11278460;11297558;11472839;11486055;11841368;11960000;11990454;12015973;12050670;12068298;12098667;12123571;12138125;12372301;12426310;12559132;12569124;14528312;14611647;14614827;14636583;15019948;15075292;15110707;15115751;15163793;15198976;15292211;15294024;15300262;15356051;15498814;15618519;15647319;15691767;15889150;15963974;16061793;16136078;16155214;16282375;16335952;16390857;16421275;16459297;16459298;16602827;16611729;16611981;16630821;16647304;16651542;16740475;16908539;16980583;17086203;17115028;17126548;17210683;17442700;17504940;17504941;17507410;17609110;17641202;17960137;17967162;18264092;18445271;18455992;18477453;18497258;18502753;18534984;18559595;18711132;18794898;18801728;18815277;18827223;18832070;19002207;19081070;19176481;19196978;19218434;19305393;19346256;19365551;19368795;19371734;19533801;19549984;19561609;19561611;19592253;19603532;19622347;19666503;19684112;19818708;19852954;19878745;19948480;19955409;19996169;20014402;20016067;20154143;20360384;20412775;20460306;20487519;20512148;20519495;20585641;20643644;20818436;20844013;20844016;20889716;20956384;20966082;21257310;21339334;21356043;21357747;21412441;21659505;21664575;21664576;21664577;21695114;21801010;21802063;21816240;21842183;21878643;22007132;22277298;22326621;22391301;22467855;22609552;22677548;22899867;22902404;22981989;22982193;22986504;23026747;23112049;23118222;23332756;23719536;23725801;23867461;23867465;23877428;23900540;23955340;24072710;24302888;24342078;24582806;24784881;24845016;24854174;24925320;25927242;28472341;28589169;28708305;29471294;29557506;30298535;30552336;31844290;32350084;33063110;33712994;33864885;35051231;35251023;3616618;37864517;6950381;7797535;7885476;7985023;8082781;8198617;8386612;8397094;8557170;8612563;8689684;8732687;8770894;8824192;8898207;8906787;8906794;9064337;9593755;9601642;9774680;9815658;9874371", "class_list": "", "function": "Distinctive functioning of STARD1 in the fetal Leydig cells compared to adult Leydig and adrenal cells. Impact of Hedgehog signaling via the primary cilium., [RefSeq, PubMed]; Mutations in the desert hedgehog (DHH) gene in the disorders of sexual differentiation and male infertility., [RefSeq, PubMed]; PKNOX1 acts as a transcription factor of DHH and promotes the progression of stomach adenocarcinoma by regulating the Hedgehog signalling pathway., [RefSeq, PubMed]; Precursor of desert hedgehog, a morphogen that activates the smoothened signaling pathway, and which is essential for a variety of patterning events during development (By similarity). The C-terminal part of the precursor displays an autoproteolysis and a cholesterol transferase activity, resulting (1) in the cleavage of the full-length protein into two parts, desert hedgehog protein N-product and C-product and (2) covalent attachment of a cholesterol moiety to the C-terminus of the newly generated N-product (DHH-N) (By similarity). Both autoproteolysis and a cholesterol transferase activities occur in the endoplasmic reticulum (By similarity). Following additional lipidation, DHH-N acts as a morphogen, while the C-product is degraded in the endoplasmic reticulum (By similarity)., [UniProtKB, UniProtKB]; The dually lipidated desert hedgehog protein N-product is a morphogen that activates the smoothened signaling pathway, and which is essential for a variety of patterning events during development (By similarity). Acts by binding to the patched receptor (PTCH1 or PTCH2), relieving smoothened (SMO) inhibition by patched, activating the smoothened signaling pathway and transcription of target genes (PubMed:11472839, PubMed:33063110). In the absence of DHH, patched represses the constitutive signaling activity of SMO (By similarity). DHH plays a key role in male gonad development (spermatogenesis) and the formation of Schwann cells (By similarity). Required for normal testis development and spermatogenesis, namely for the formation of adult-type Leydig cells and normal development of peritubular cells and seminiferous tubules (By similarity). In Schwann cells, controls the development of the peripheral nerve sheath and the transition of mesenchymal cells to form the epithelium-like structure of the perineurial tube (By similarity). May induce motor neurons in lateral neural tube and may have a polarizing activity (PubMed:11472839). Involved in tissue regeneration: secreted from epithelial neuroendocrine cells and elicits a regenerative response from mesenchymal cells (By similarity). Functions in cell-cell mediated juxtacrine signaling (PubMed:24342078). Activates primary cilia signaling on neighboring valve interstitial cells through a paracrine mechanism (By similarity). Promotes endothelium integrity (PubMed:33063110)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed]; These data demonstrate that DHH is a key molecule in both male gonadal differentiation and perineurial formation in peripheral nerves Review article, [RefSeq, PubMed]; This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15794", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.4.24.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.86", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0008233 peptidase activity;GO:0005113 patched binding;GO:0140853 cholesterol-protein transferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0001708 cell fate specification;GO:0045880 positive regulation of smoothened signaling pathway;GO:0007267 cell-cell signaling;GO:0042552 myelination;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "O43323-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75911-1", "uniprot_id": [ { "id": "DHRS3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75911", "type": "external" } ], "mass": 33548.0, "length": 302, "protein_name": "Short-chain dehydrogenase/reductase 3", "gene_name": "DHRS3", "organism": "Human", "refseq_name": "short-chain dehydrogenase/reductase 3 isoform 1", "refseq_ac": [ { "id": "NP_004744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004744", "type": "external" } ], "gene_names_uniprotkb": "DHRS3; PRO4983; RDH17; SDR16C1", "gene_names_refseq": "CNALPTC1; CRSS; DD83.1; DHRS3; RDH17; Rsdr1; SDR16C1; SDR1; retSDR1", "protein_names_uniprotkb": "Short-chain dehydrogenase/reductase 3; 1.1.1.300; DD83.1; Retinal short-chain dehydrogenase/reductase 1; Retinol dehydrogenase 17; Short chain dehydrogenase/reductase family 16C member 1; retSDR1", "protein_names_refseq": "copy number amplified long noncoding RNA in papillary thyroid cancer 1; dehydrogenase/reductase (SDR family) member 3; dehydrogenase/reductase member 3; retinal short-chain dehydrogenase/reductase 1; retinol dehydrogenase 17; short chain dehydrogenase/reductase family 16C member 1; short-chain dehydrogenase/reductase 1; short-chain dehydrogenase/reductase 3 isoform 1; short-chain dehydrogenase/reductase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9249); (R-HSA-2187335); (R-HSA-5365859)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10329026;10369264;10839978;11007799;11237011;11245473;11861404;12036956;12177057;12226107;12367507;12680773;12975309;14532297;14596915;16106050;16128572;1742276;18039331;18805086;1889753;1925597;19781940;19846785;20801113;21529158;21621639;21851338;22019272;2303470;23143414;23220587;23905688;24799687;2542268;25576301;25645385;26154972;26992070;27846572;27862975;28096191;28371410;28832583;28834231;2935875;2937147;29447006;29493099;29557506;29689192;29786170;3013304;30429286;30833945;31154438;3170584;31844290;31848261;32157095;32161166;32387766;32938616;32983136;33123756;33902658;34087483;34171305;34185709;3485310;35051231;35580925;36215666;36284347;36840946;37938771;4772407;8493914;9228021;9541407;9677409;9705317", "class_list": "", "function": "Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; CircDHRS3 inhibits prostate cancer cell proliferation and metastasis through the circDHRS3/miR-421/MEIS2 axis., [RefSeq, PubMed]; Inhibition of retinoic acid receptor alpha phosphorylation represses the progression of triple-negative breast cancer via transactivating miR-3074-5p to target DHRS3. Publication Status: Online-Only, [RefSeq, PubMed]; Mouse Dhrs3 plays critical roles in the development of the heart by controlling the formation of retinoic acid., [RefSeq, PubMed]; We proposed that four newly identified peripheral blood mononuclear cells-derived genes( DHRS3, TTC38, SAP30BP and LPIN2 )could be integrated with previously reported rheumatoid arthritis (RA)-associated genes to monitor and/or diagnose RA., [RefSeq, PubMed]; Yap targets Dhrs3, to reduce retinoic acid synthesis and inhibit cardiac fibroblast differentiation during development., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2R7F3;Q5VUY3;Q6UY38;Q9BUC8", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0000166 nucleotide binding;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane;GO:0042622 photoreceptor outer segment membrane;GO:0016020 membrane", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0007601 visual perception;GO:0048385 regulation of retinoic acid receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O75911-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94777-1", "uniprot_id": [ { "id": "DPM2_HUMAN", "url": "https://www.uniprot.org/uniprot/O94777", "type": "external" } ], "mass": 9312.0, "length": 84, "protein_name": "Dolichol phosphate-mannose biosynthesis regulatory protein", "gene_name": "DPM2", "organism": "Human", "refseq_name": "dolichol phosphate-mannose biosynthesis regulatory protein isoform 1", "refseq_ac": [ { "id": "NP_003854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003854", "type": "external" } ], "gene_names_uniprotkb": "DPM2; My026", "gene_names_refseq": "CDG1U; DPM2", "protein_names_uniprotkb": "Dolichol phosphate-mannose biosynthesis regulatory protein; DPM synthase subunit 2; Dolichol-phosphate mannose synthase subunit 2", "protein_names_refseq": "DPM synthase complex subunit; DPM synthase subunit 2; dolichol phosphate-mannose biosynthesis regulatory protein isoform 1; dolichol phosphate-mannose biosynthesis regulatory protein; dolichol-phosphate mannose synthase subunit 2; dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit", "tax_id": 9606, "disease": "congenital disorder of glycosylation Iu (Disease Ontology:DOID:0080571); hypogonadotropic hypogonadism 23 with or without anosmia (Disease Ontology:DOID:0090091); severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:8818); (R-HSA-162699); (R-HSA-162710); (R-HSA-4717374); (R-HSA-4719360); (R-HSA-4719377); (R-HSA-9918432)", "pathway_count": 7, "publication_count": 52, "publication_id_list": "10069808;10089216;10228156;10642597;10642602;10835346;10944123;11226175;11237011;14517336;14742432;15623507;15632136;15635094;15669674;15720390;16162815;19054851;19576565;19901254;23109149;25576301;25802875;26208004;26992070;27383988;27846572;28228285;28228593;28832583;29242379;29310965;29557506;30429286;30779550;31844290;32157095;32161166;32350084;33129689;33255655;33912179;33968037;35215835;35251023;35580925;36241641;38793607;8861954;8900170;9463366;9724629", "class_list": "glycogene", "function": "Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]., [RefSeq]; Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation., [RefSeq, PubMed]; In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration., [RefSeq, PubMed]; Regulates the biosynthesis of dolichol phosphate-mannose (PubMed:10835346). Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1 (PubMed:10835346). Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis (PubMed:16162815). May act by regulating the GPI-GNT complex (PubMed:10944123)., [UniProtKB, PubMed, PubMed, PubMed]; Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis. May act by regulating the GPI-GNT complex., [UniProtKB, UniProtKB]; Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization., [UniProtKB, UniProtKB]; We describe a new congenital disorders of glycosylation, due to a deficiency of DPM2, [RefSeq, PubMed]; Yil102c-A is a Functional Homologue of the DPMII Subunit of Dolichyl Phosphate Mannose Synthase in Saccharomyces cerevisiae. 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": 118, "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": "Q5XKK9;Q6FGH3", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;GO:0033185 dolichol-phosphate-mannose synthase complex;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0043048 dolichyl monophosphate biosynthetic process;GO:0006506 GPI anchor biosynthetic process;GO:0180047 dolichol phosphate mannose biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "O94777-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49448-1", "uniprot_id": [ { "id": "DHE4_HUMAN", "url": "https://www.uniprot.org/uniprot/P49448", "type": "external" } ], "mass": 61434.0, "length": 558, "protein_name": "Glutamate dehydrogenase 2, mitochondrial", "gene_name": "GLUD2", "organism": "Human", "refseq_name": "glutamate dehydrogenase 2, mitochondrial precursor", "refseq_ac": [ { "id": "NP_036216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036216", "type": "external" } ], "gene_names_uniprotkb": "GLUD2; GLUDP1", "gene_names_refseq": "GDH2; GLUD2; GLUDP1", "protein_names_uniprotkb": "Glutamate dehydrogenase 2, mitochondrial; 1.4.1.3; GDH 2", "protein_names_refseq": "GDH 2; glutamate dehydrogenase 2, mitochondrial precursor; glutamate dehydrogenase 2, mitochondrial; glutamate dehydrogenase pseudogene 1; testicular secretory protein Li 14", "tax_id": 9606, "disease": "hepatic encephalopathy (Disease Ontology:DOID:13413); childhood absence epilepsy (Disease Ontology:DOID:1825); brain ischemia (Disease Ontology:DOID:2316); temporal lobe epilepsy (Disease Ontology:DOID:3328); fascioliasis (Disease Ontology:DOID:885)", "pathway": " (hsa:2747); (R-HSA-2151201); (R-HSA-8964539)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;10412986;10643692;10713165;11340167;11809803;11903050;12054821;12374852;12563009;12745923;15364907;15684387;16023112;16079181;16079853;16267323;16730026;16788062;16890199;16908542;16911507;17031457;1737786;17437997;17715127;17923681;18005987;18215119;18343819;18680753;19001277;19338303;19356719;19417006;19648921;19951946;20068231;20657015;22709669;23024808;25865492;26902786;26992070;2722838;28514659;28832583;28904123;29242379;29557506;29632711;31217245;31422819;31844290;32157095;32161166;32938616;32983136;33093440;33141586;33421122;33691108;33968037;34509645;34561969;35051231;35254053;36241641;39052831;4052435;429360;6819292;7629110;7799916;7883047;8108407;8207021;8294935;8333869;9178750;9286700;9514741", "class_list": "", "function": "Crystal structure of glutamate dehydrogenase 2, a positively selected novel human enzyme involved in brain biology and cancer pathophysiology., [RefSeq, PubMed]; Functional validation of a human GLUD2 variant in a murine model of Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission., [UniProtKB]; Lack of evidence for direct ligand-gated ion channel activity of GluD receptors., [RefSeq, PubMed]; The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is intronless.[provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R8G0;Q9UDQ4", "ec_number_list": [ { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0043531 ADP binding;GO:0004352 glutamate dehydrogenase (NAD+) activity;GO:0004353 glutamate dehydrogenase [NAD(P)+] activity;GO:0070728 L-leucine binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006536 glutamate metabolic process;GO:0006537 glutamate biosynthetic process;GO:0006538 L-glutamate catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P49448-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56937-1", "uniprot_id": [ { "id": "DHB7_HUMAN", "url": "https://www.uniprot.org/uniprot/P56937", "type": "external" } ], "mass": 38206.0, "length": 341, "protein_name": "3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7", "gene_name": "HSD17B7", "organism": "Human", "refseq_name": "3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2", "refseq_ac": [ { "id": "NP_001291441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291441", "type": "external" } ], "gene_names_uniprotkb": "HSD17B7; 17HSD7; PRO6243; SDR37C1", "gene_names_refseq": "HSD17B7; PRAP; SDR37C1", "protein_names_uniprotkb": "3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7; 1.1.1.210; 1.1.1.270; 1.1.1.62; 17-beta-HSD 7; 17-beta-hydroxysteroid dehydrogenase 7; 3-keto-steroid reductase; Dihydrotestosterone oxidoreductase; Estradiol 17-beta-dehydrogenase 7; Short chain dehydrogenase/reductase family 37C member 1", "protein_names_refseq": "17 beta-hydroxysteroid dehydrogenase type VII; 17-beta-HSD 7; 17-beta-hydroxysteroid dehydrogenase 7; 17beta hydroxysteroid dehydrogenase; 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform 2; 3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7; 3-keto-steroid reductase; dihydrotestosterone oxidoreductase; estradiol 17-beta-dehydrogenase 7; short chain dehydrogenase/reductase family 37C member 1", "tax_id": 9606, "disease": "polycystic ovary syndrome (Disease Ontology:DOID:11612); steroid inherited metabolic disorder (Disease Ontology:DOID:1701)", "pathway": " (hsa:51478); (R-HSA-6807047); (R-HSA-6807062)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10369263;10391218;10391219;10544267;11165030;11237011;11519011;12189593;12574203;12618959;12732193;12812989;12829805;12975309;14404284;14506130;16784888;19772289;20659585;21285510;22424782;23050906;23481700;24715725;25418920;26929215;26992070;27920218;28063628;28218747;28228285;28467828;28645527;28649982;28832583;28904123;29242379;29437277;29493099;29557506;29632046;30227243;30315122;30410026;30573663;30779550;31207361;31530632;31844290;31998317;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33298915;33717175;33912179;33968037;34087483;34185380;34357683;34509645;34932366;35561310;35580925;36215666;36241641;8619637;8663358;8797093;9465114", "class_list": "", "function": "Bifunctional enzyme involved in steroid-hormone metabolism and cholesterol biosynthesis (PubMed:11165030, PubMed:12574203, PubMed:12732193, PubMed:12829805, PubMed:19772289, PubMed:20659585). Catalyzes the NADP(H)-dependent reduction of estrogens and androgens and regulates the biological potency of these steroids. Converts estrone (E1) to a more potent estrogen, 17beta-estradiol (E2) (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts dihydrotestosterone (DHT) to its inactive form 5a-androstane-3b,17b-diol (PubMed:12574203, PubMed:12732193, PubMed:19772289). Converts moderately progesterone to 3beta-hydroxypregn-4-ene-20-one, leading to its inactivation (PubMed:12574203, PubMed:12732193). Additionally, participates in the post-squalene cholesterol biosynthesis, as a 3-ketosteroid reductase (PubMed:11165030, PubMed:12829805, PubMed:20659585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Does not have enzymatic activities toward E1 and DHT., [UniProtKB, PubMed]; HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]., [RefSeq]; HSD17B7 gene in self-renewal and oncogenicity of keratinocytes from Black versus White populations., [RefSeq, PubMed]; Inhibition of 17beta-HSD 7 modulates breast cancer protein profile and enhances apoptosis by down-regulating GRP78., [RefSeq, PubMed]; Inhibition of 17beta-HSD7can provide a new basis for the design of combined endocrine therapy for breast cancer by controlling E2 and DHT, while up-regulating AR expression and stably controlling expression of ERalpha., [RefSeq, PubMed]; Substrate affinity of 17beta-hydroxysteroid dehydrogenase type 7 toward estrone and 5alpha-dihydrotestosterone are similar., [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": 12, "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": "Q5T246;Q7Z4V9;Q8WWS2;Q9UF00", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.145", "type": "external" }, { "id": "5.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.1", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" } ], "go_molecular_function": "GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0000253 3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity;GO:0047024 5-alpha-androstane-3-beta,17-beta-diol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006695 cholesterol biosynthetic process;GO:0007420 brain development;GO:0006703 estrogen biosynthetic process;GO:0008209 androgen metabolic process;GO:0048568 embryonic organ development", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P56937-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13574-2", "uniprot_id": [ { "id": "DGKZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13574", "type": "external" } ], "mass": 103981.0, "length": 928, "protein_name": "Diacylglycerol kinase zeta", "gene_name": "DGKZ", "organism": "Human", "refseq_name": "diacylglycerol kinase zeta isoform 4", "refseq_ac": [ { "id": "NP_001099010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099010", "type": "external" } ], "gene_names_uniprotkb": "DGKZ; DAGK6", "gene_names_refseq": "DAGK5; DAGK6; DGK-ZETA; DGKZ; hDGKzeta", "protein_names_uniprotkb": "Diacylglycerol kinase zeta; 2.7.1.107; 2.7.1.93; DAG kinase zeta; DGK-zeta; Diglyceride kinase zeta", "protein_names_refseq": "DAG kinase zeta; diacylglycerol kinase zeta isoform 4; diacylglycerol kinase, zeta 104kDa; diglyceride kinase zeta", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); obstructive sleep apnea (Disease Ontology:DOID:0050848); stroke (Disease Ontology:DOID:0051061); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); colitis (Disease Ontology:DOID:0060180); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); Graves ophthalmopathy (Disease Ontology:DOID:0081120); Prinzmetal angina (Disease Ontology:DOID:0111151); venous insufficiency (Disease Ontology:DOID:10128); aortic atherosclerosis (Disease Ontology:DOID:10230); pleurisy (Disease Ontology:DOID:10247); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); nephritis (Disease Ontology:DOID:10952); cholesteatoma of middle ear (Disease Ontology:DOID:10964); urinary bladder cancer (Disease Ontology:DOID:11054); allergic conjunctivitis (Disease Ontology:DOID:11204); adult respiratory distress syndrome (Disease Ontology:DOID:11394); sciatic neuropathy (Disease Ontology:DOID:11446); diabetic angiopathy (Disease Ontology:DOID:11713); gestational diabetes (Disease Ontology:DOID:11714); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); allergic disease (Disease Ontology:DOID:1205); primary biliary cholangitis (Disease Ontology:DOID:12236); alcoholic hepatitis (Disease Ontology:DOID:12351); Graves' disease (Disease Ontology:DOID:12361); malaria (Disease Ontology:DOID:12365); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); Sjogren's syndrome (Disease Ontology:DOID:12894); dilated cardiomyopathy (Disease Ontology:DOID:12930); retinopathy of prematurity (Disease Ontology:DOID:13025); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); mesenteric vascular occlusion (Disease Ontology:DOID:13252); biliary atresia (Disease Ontology:DOID:13608); rheumatic fever (Disease Ontology:DOID:1586); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); transient cerebral ischemia (Disease Ontology:DOID:224); ovarian cancer (Disease Ontology:DOID:2394); idiopathic interstitial pneumonia (Disease Ontology:DOID:2797); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); brain infarction (Disease Ontology:DOID:3454); cerebral infarction (Disease Ontology:DOID:3526); pulmonary fibrosis (Disease Ontology:DOID:3770); bronchus carcinoma (Disease Ontology:DOID:3904); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); hyperglycemia (Disease Ontology:DOID:4195); brain edema (Disease Ontology:DOID:4724); pancreatitis (Disease Ontology:DOID:4989); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); pneumonia (Disease Ontology:DOID:552); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); localized scleroderma (Disease Ontology:DOID:8472); rheumatic myocarditis (Disease Ontology:DOID:8481); bullous pemphigoid (Disease Ontology:DOID:8506); chronic ulcer of skin (Disease Ontology:DOID:8549); Hodgkin's lymphoma (Disease Ontology:DOID:8567); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); hyperhomocysteinemia (Disease Ontology:DOID:9279); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); iridocyclitis (Disease Ontology:DOID:9383); multiple myeloma (Disease Ontology:DOID:9538); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8525); (R-HSA-114508)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11080611;11257115;11352924;11413485;11805119;15157668;15544348;17351151;18004883;19033211;19744926;2175712;22108654;22544926;22627129;23186163;23481700;23949095;25576301;25645385;27920218;28063628;28228285;28832583;29242379;29393594;29508533;29632046;29632711;29786170;30315122;30524438;32157095;32502341;32897882;32938616;32983136;33298915;33968037;34171305;34509645;34932366;35051231;35251023;35561310;35580925;36010968;36284347;36906254;37166445;37217939;37347142;37479996;37938771;8626588;9159104;9601053;9716136;9930701", "class_list": "", "function": "Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:15544348, PubMed:18004883, PubMed:19744926, PubMed:22108654, PubMed:22627129, PubMed:23949095, PubMed:9159104). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:15544348, PubMed:18004883, PubMed:19744926, PubMed:22108654, PubMed:22627129, PubMed:23949095, PubMed:9159104). Also plays an important role in the biosynthesis of complex lipids (Probable). Does not exhibit an acyl chain-dependent substrate specificity among diacylglycerol species (PubMed:19744926, PubMed:22108654, PubMed:9159104). Can also phosphorylate 1-alkyl-2-acylglycerol in vitro but less efficiently and with a preference for alkylacylglycerols containing an arachidonoyl group (PubMed:15544348, PubMed:19744926, PubMed:22627129). The biological processes it is involved in include T cell activation since it negatively regulates T-cell receptor signaling which is in part mediated by diacylglycerol (By similarity). By generating phosphatidic acid, stimulates PIP5KIA activity which regulates actin polymerization (PubMed:15157668). Through the same mechanism could also positively regulate insulin-induced translocation of SLC2A4 to the cell membrane (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Diacylglycerol kinase zeta interacts with sphingomyelin synthase 1 and sphingomyelin synthase-related protein via different regions., [RefSeq, PubMed]; Differential expression of diacylglycerol kinase zeta is involved in inferior parietal lobule-related dysfunction in schizophrenia with cognitive impairments. Publication Status: Online-Only, [RefSeq, PubMed]; Does not regulate RASGRP1 activity., [UniProtKB, PubMed]; Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease., [RefSeq, PubMed]; Identification and characterization of diacylglycerol kinase zeta as a novel enzyme producing ceramide-1-phosphate., [RefSeq, PubMed]; Regulates RASGRP1 activity., [UniProtKB, PubMed]; The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 87, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2M9;B7Z6M3;E9PPW4;F6UCU9;G3V0F6;J3KNJ6;O00542;Q6ZVG7;Q8IVW9", "ec_number_list": [ { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.93", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.93", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" } ], "go_molecular_function": "GO:0001727 lipid kinase activity;GO:0004143 ATP-dependent diacylglycerol kinase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0046339 diacylglycerol metabolic process;GO:0046834 lipid phosphorylation;GO:0006654 phosphatidic acid biosynthetic process;GO:0016477 cell migration;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q13574-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14181-1", "uniprot_id": [ { "id": "DPOA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14181", "type": "external" } ], "mass": 65948.0, "length": 598, "protein_name": "DNA polymerase alpha subunit B", "gene_name": "POLA2", "organism": "Human", "refseq_name": "DNA polymerase alpha subunit B isoform 1", "refseq_ac": [ { "id": "NP_002680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002680", "type": "external" } ], "gene_names_uniprotkb": "POLA2", "gene_names_refseq": "POLA2", "protein_names_uniprotkb": "DNA polymerase alpha subunit B; DNA polymerase alpha 70 kDa subunit", "protein_names_refseq": "DNA polymerase alpha 70 kDa subunit; DNA polymerase alpha subunit B isoform 1; DNA polymerase alpha subunit B; polymerase (DNA directed), alpha 2 (70kD subunit); polymerase (DNA directed), alpha 2, accessory subunit; polymerase (DNA) alpha 2, accessory subunit; polymerase (DNA-directed), alpha (70kD)", "tax_id": 9606, "disease": "", "pathway": " (hsa:23649); (R-HSA-113501); (R-HSA-174411); (R-HSA-174430); (R-HSA-68952); (R-HSA-68962); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183); (R-HSA-9710421)", "pathway_count": 10, "publication_count": 155, "publication_id_list": "10329413;10373557;10518787;10523313;10656791;10656792;10751307;10757793;10846177;10882098;11003670;11095689;11125146;11237011;11473323;11724925;12045100;12546699;12766176;12930902;1328683;14527418;14766746;15066120;15302935;16314528;1671046;1682322;16964243;17699597;17991896;18223688;18346456;18446792;18452278;18669648;1902230;19413330;19651622;19661920;19664994;19690332;1974050;19854130;19896182;20068231;20639858;20934997;21406692;2165567;22424782;22544926;22871736;22898188;23186163;23301498;23481700;24029068;24038470;24115439;24366607;24715725;25231993;25576301;25645385;26154972;26375851;26975377;26992070;27600516;27846572;27862975;27893789;27920218;28063628;28228285;28334750;28404884;28510447;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29774655;29786170;30026550;30315122;30524438;30993897;31217245;31844290;32157095;32188940;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36730613;39894887;40914422;6094569;6693436;7378348;7711022;7713898;7876218;8104944;8131753;8144677;8223465;8954124;9081985;9191022;9660172;9660782;9705292;9822671", "class_list": "", "function": "Accessory subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis (PubMed:9705292). During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By similarity). The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands (By similarity). These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CircRNA circ_POLA2 overexpression suppresses cell apoptosis by downregulating PTEN in glioblastoma., [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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DNB4;Q9BPV3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005658 alpha DNA polymerase:primase complex;GO:0005654 nucleoplasm;GO:0005634 nucleus", "go_biological_process": "GO:0006260 DNA replication;GO:0006270 DNA replication initiation;GO:0006269 DNA replication, synthesis of primer", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q14181-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1HG43-1", "uniprot_id": [ { "id": "DOXA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1HG43", "type": "external" } ], "mass": 37815.0, "length": 343, "protein_name": "Dual oxidase maturation factor 1", "gene_name": "DUOXA1", "organism": "Human", "refseq_name": "dual oxidase maturation factor 1 isoform 1", "refseq_ac": [ { "id": "NP_001263193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263193", "type": "external" } ], "gene_names_uniprotkb": "DUOXA1; NIP; NUMBIP", "gene_names_refseq": "DUOXA1; NIP; NUMBIP; mol", "protein_names_uniprotkb": "Dual oxidase maturation factor 1; Dual oxidase activator 1; Numb-interacting protein", "protein_names_refseq": "dual oxidase activator 1; dual oxidase maturation factor 1 alpha; dual oxidase maturation factor 1 beta; dual oxidase maturation factor 1 delta; dual oxidase maturation factor 1 gamma; dual oxidase maturation factor 1 isoform 1; homolog of Drosophila Numb-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:90527); (R-HSA-209968)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "11237011;11514595;14670962;15561711;15972824;16651268;16910871;1722671;19144650;19322654;19339556;28228285;29704517;33420071;35580925;39126279;67547;8806637", "class_list": "", "function": "DUOXA1 transient overexpression affected the cell-cell adhesion by modulating the actin cytoskeleton, [RefSeq, PubMed]; Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]; Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells., [RefSeq, PubMed]; Required for the maturation and transport of functional DUOX1 from the endoplasmic reticulum to the plasma membrane (PubMed:16651268). Recruits DUOX1 to the apical cell membrane (PubMed:39126279)., [UniProtKB, PubMed, PubMed]; Structures of human dual oxidase 1 complex in low-calcium and high-calcium states. Publication Status: Online-Only, [RefSeq, PubMed]; Study shows that DUOXA1 is overexpressed in platinum-resistant ovarian cancer (OC) cells, resulting in over production of reactive oxygen species (ROS). Elevated ROS level sustains the activation of ATR-Chk1 pathway, leading to resistance to cisplatin in OC cells. Clinical studies also confirm the activation of ATR and DOUXA1 in OC patients, and elevated DOUXA1 or ATR-Chk1 pathway correlates with poor prognosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 3, "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": "Q8N6K9;Q96MI4", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031252 cell leading edge;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0010729 positive regulation of hydrogen peroxide biosynthetic process;GO:0015031 protein transport;GO:0072659 protein localization to plasma membrane;GO:0008104 intracellular protein localization;GO:0050665 hydrogen peroxide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q1HG43-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53GQ0-1", "uniprot_id": [ { "id": "DHB12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53GQ0", "type": "external" } ], "mass": 34324.0, "length": 312, "protein_name": "Very-long-chain 3-oxoacyl-CoA reductase", "gene_name": "HSD17B12", "organism": "Human", "refseq_name": "very-long-chain 3-oxoacyl-CoA reductase", "refseq_ac": [ { "id": "NP_057226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057226", "type": "external" } ], "gene_names_uniprotkb": "HSD17B12; SDR12C1", "gene_names_refseq": "HSD17B12; KAR; SDR12C1", "protein_names_uniprotkb": "Very-long-chain 3-oxoacyl-CoA reductase; 1.1.1.330; 1.1.1.62; 17-beta-HSD 12; 17-beta-hydroxysteroid dehydrogenase 12; 3-ketoacyl-CoA reductase; Estradiol 17-beta-dehydrogenase 12; KAR; Short chain dehydrogenase/reductase family 12C member 1", "protein_names_refseq": "17-beta-HSD 12; 17-beta-hydroxysteroid dehydrogenase 12; 17beta-HSD type 12; 3-ketoacyl-CoA reductase; estradiol 17-beta-dehydrogenase 12; short chain dehydrogenase/reductase family 12C member 1; steroid dehydrogenase homolog; very-long-chain 3-oxoacyl-CoA reductase", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:51144); (R-HSA-193048); (R-HSA-75876)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;10406467;10548543;10954726;11237011;11889465;12371743;12482854;12525535;1279965;12975357;15469937;16036915;16113833;16166196;16371355;16621523;1712709;17379924;17681178;17762044;17986282;18003621;18318566;18554506;18728184;1944596;19505953;19826053;19879888;19936164;20068231;20937905;21959040;2197970;2243100;2339109;24714562;2534550;25576301;25892735;25961201;26992070;27452731;27846572;28218747;28228285;28510447;28834231;29314611;29437277;29557506;29769354;30315122;30410026;31844290;3207614;32119511;32157095;32350084;32357974;32387766;32938616;33118286;33912179;33968037;34019948;34171305;34357683;34561969;34762930;35404482;35580925;3783591;38253038;38665916;40596516;8075637;8547185;9208814;9536209;9871428", "class_list": "", "function": "17beta-HSD12 is the major estrogenic 17beta-HSD responsible for the conversion of E1 to E2 in women., [RefSeq, PubMed]; Association of genetic polymorphisms with local steroid metabolism in human benign breasts., [RefSeq, PubMed]; Catalyzes the second of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme has a 3-ketoacyl-CoA reductase activity, reducing 3-ketoacyl-CoA to 3-hydroxyacyl-CoA, within each cycle of fatty acid elongation. Thereby, it may participate in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. May also catalyze the transformation of estrone (E1) into estradiol (E2) and play a role in estrogen formation., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Functional genetic variant of HSD17B12 in the fatty acid biosynthesis pathway predicts the outcome of colorectal cancer., [RefSeq, PubMed]; Genetic variants in CYP2B6 and HSD17B12 associated with risk of squamous cell carcinoma of the head and neck., [RefSeq, PubMed]; Location of 17beta-hydroxysteroid dehydrogenase type 12 through the human body., [RefSeq, PubMed]; This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [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": 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": 2, "reported_glycation": 0, "reported_snv": 5, "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": "A8K9B0;D3DR23;Q96EA9;Q96JU2;Q9Y6G8", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" } ], "go_molecular_function": "GO:0008201 heparin binding;GO:0005518 collagen binding;GO:0016491 oxidoreductase activity;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0001968 fibronectin binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0031012 extracellular matrix;GO:0005789 endoplasmic reticulum membrane;GO:0009923 fatty acid elongase complex", "go_biological_process": "GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0006702 androgen biosynthetic process;GO:0006703 estrogen biosynthetic process;GO:0019367 fatty acid elongation, saturated fatty acid;GO:0006694 steroid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q53GQ0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SXM8-1", "uniprot_id": [ { "id": "DNLZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SXM8", "type": "external" } ], "mass": 19204.0, "length": 178, "protein_name": "DNL-type zinc finger protein", "gene_name": "DNLZ", "organism": "Human", "refseq_name": "DNL-type zinc finger protein", "refseq_ac": [ { "id": "NP_001074318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074318", "type": "external" } ], "gene_names_uniprotkb": "DNLZ; C9orf151", "gene_names_refseq": "C9orf151; DNLZ; HEP1; HEP; TIMM15; ZIM17; bA413M3.2", "protein_names_uniprotkb": "DNL-type zinc finger protein; HEP1; Hsp70-escort protein 1; mtHsp70-escort protein", "protein_names_refseq": "DNL-type zinc finger protein; HSP70 escort protein; RP11-413M3.2; hsp70-escort protein 1; mtHsp70-escort protein; translocase of inner mitochondrial membrane 15 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:728489)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;21530495;22162012;23462535;29242379;30779550;31844290;32502341;32938616;33857516;38001371", "class_list": "", "function": "DNLZ/HEP zinc-binding subdomain is critical for regulation of the mitochondrial chaperone HSPA9. Human DNLZ partially complements the growth of Deltazim17 Saccharomyces cerevisiae., [RefSeq, PubMed]; Human HSP70-escort protein 1 (hHep1) interacts with negatively charged lipid bilayers and cell membranes., [RefSeq, PubMed]; May function as a co-chaperone towards HSPA9/mortalin which, by itself, is prone to self-aggregation., [UniProtKB, PubMed]; New insights on human Hsp70-escort protein 1: Chaperone activity, interaction with liposomes, cellular localizations and HSPA's self-assemblies remodeling., [RefSeq, PubMed]; The results indicate that hHep1 shares some structural similarities with the yeast ortholog despite the low identity and functional differences., [RefSeq, PubMed]; These findings implicate a conserved histidine as critical for DNLZ regulation of mitochondrial HSPA9 catalytic activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RUX5;B9EJE1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051087 protein-folding chaperone binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0050821 protein stabilization;GO:0006457 protein folding;GO:0051131 chaperone-mediated protein complex assembly;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5SXM8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6B8I1-1", "uniprot_id": [ { "id": "DS13A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6B8I1", "type": "external" } ], "mass": 20658.0, "length": 188, "protein_name": "Dual specificity protein phosphatase 13A", "gene_name": "DUSP13A", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 13A", "refseq_ac": [ { "id": "NP_001007272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007272", "type": "external" } ], "gene_names_uniprotkb": "DUSP13A; BEDP; DUSP13; MDSP", "gene_names_refseq": "BEDP; DUSP13A; DUSP13; MDSP", "protein_names_uniprotkb": "Dual specificity protein phosphatase 13A; 3.1.3.16; 3.1.3.48; Branching-enzyme interacting DSP; DUSP13A; MDSP; Muscle-restricted DSP", "protein_names_refseq": "branching-enzyme interacting DSP; branching-enzyme interacting dual specificity phosphatase; dual specificity protein phosphatase 13A; dual specificity protein phosphatase 13; muscle-restricted DSP; muscle-restricted dual specificity phosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:128854680); (hsa:51207)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11237011;15252030;20358250;29106959;35051231", "class_list": "", "function": "Dual specificity phosphatase able to dephosphorylate phosphotyrosine, phosphoserine and phosphothreonine residues, with a preference for phosphotyrosine as a substrate., [UniProtKB, UniProtKB]; Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and differentiation. This gene encodes a dual specificity phosphatase that acts on both phosphotyrosine and phosphoserine/threonine residues. The encoded protein is expressed in skeletal muscle. [provided by RefSeq, Mar 2023]., [RefSeq]; Probable protein tyrosine phosphatase. Has phosphatase activity with synthetic substrates (PubMed:15252030, PubMed:29106959). Has a phosphatase activity-independent regulatory role in MAP3K5/ASK1-mediated apoptosis, preventing MAP3K5/ASK1 inhibition by AKT1. Shows no phosphatase activity on MAPK1/ERK2, MAPK8/JNK, MAPK14/p38 and MAP3K5/ASK1., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "Q96J67", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0016791 phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0016311 dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6B8I1-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWP2-1", "uniprot_id": [ { "id": "DHR11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWP2", "type": "external" } ], "mass": 28308.0, "length": 260, "protein_name": "Dehydrogenase/reductase SDR family member 11", "gene_name": "DHRS11", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 11 precursor", "refseq_ac": [ { "id": "NP_077284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077284", "type": "external" } ], "gene_names_uniprotkb": "DHRS11; PRO1774; SDR24C1", "gene_names_refseq": "ARPG836; DHRS11; SDR24C1; spDHRS11", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 11; 1.1.1.270; 1.1.1.62; 17-beta-hydroxysteroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; Estradiol 17-beta-dehydrogenase; Short-chain dehydrogenase/reductase family 24C member 1", "protein_names_refseq": "17-beta-hydroxysteroid dehydrogenase; 3-beta-hydroxysteroid 3-dehydrogenase; dehydrogenase/reductase (SDR family) member 11; dehydrogenase/reductase SDR family member 11 precursor; estradiol 17-beta-dehydrogenase; short-chain dehydrogenase/reductase family 24C member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79154)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12975309;19027726;26920053;28218747;28832583;29393594;29437277;30779550;31844290;31926269;32157095;32350084;32488085;35051231;35251023", "class_list": "", "function": "Catalyzes the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5-alpha-androstanes into their 17-beta-hydroxyl metabolites and the conversion of the 3-keto group of 3-, 3,17- and 3,20- diketosteroids into their 3beta-hydroxyl metabolites. Exhibits reductive 3-beta-hydroxysteroid dehydrogenase activity toward 5-beta-androstanes, 5-beta-pregnanes, 4-pregnenes and bile acids (PubMed:26920053). May contribute to the metabolism of adrenal-derived androgen precursors. Reduces 11-keto-4-androstene-3,17-dione (11KA4) and 11-keto-5alpha-androstane-3,17-dione (11K-Adione) into potent androgens 11-ketotestosterone (11KT) and 11-ketodihydrotestosterone (11KDHT), respectively (PubMed:31926269). May also reduce endogenous and exogenous alpha-dicarbonyl compounds and xenobiotic alicyclic ketones (PubMed:26920053)., [UniProtKB, PubMed, PubMed]; Human dehydrogenase/reductase SDR family member 11 (DHRS11) and aldo-keto reductase 1C isoforms in comparison: Substrate and reaction specificity in the reduction of 11-keto-C19-steroids., [RefSeq, PubMed]; The recombinant protein (DHRS11) efficiently catalyzed the conversion of the 17-keto group of estrone, 4- and 5-androstenes and 5alpha-androstanes into their 17beta-hydroxyl metabolites with NADPH as a coenzyme., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0U5BLD0;B2RDZ3;Q9BUC7;Q9H674", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.145", "type": "external" }, { "id": "5.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.1", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.3.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.3", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" } ], "go_molecular_function": "GO:0072582 17-beta-hydroxysteroid dehydrogenase (NADP+) activity;GO:0000166 nucleotide binding;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0000253 3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006694 steroid biosynthetic process;GO:0006703 estrogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q6UWP2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L8W6-1", "uniprot_id": [ { "id": "DPH6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L8W6", "type": "external" } ], "mass": 30307.0, "length": 267, "protein_name": "Diphthine--ammonia ligase", "gene_name": "DPH6", "organism": "Human", "refseq_name": "diphthine--ammonia ligase isoform 2", "refseq_ac": [ { "id": "NP_001135444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135444", "type": "external" } ], "gene_names_uniprotkb": "DPH6; ATPBD4", "gene_names_refseq": "ATPBD4; DPH6", "protein_names_uniprotkb": "Diphthine--ammonia ligase; 6.3.1.14; ATP-binding domain-containing protein 4; Diphthamide synthase; Diphthamide synthetase; Protein DPH6 homolog", "protein_names_refseq": "ATP binding domain 4; ATP-binding domain-containing protein 4; DPH6 homolog; diphthamide synthase; diphthamide synthetase; diphthine--ammonia ligase isoform 2; diphthine--ammonia ligase; protein DPH6 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:89978); (R-HSA-5358493)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "11237011;1508200;15485916;18452278;18627462;19913121;20559380;20628086;23169644;23468660;23486472;23645155;23971743;24422557;24739148;25352115;25418920;26154972;27846572;27920218;28063628;28411811;28832583;28904123;29242379;29393594;29557506;29632046;29786170;31844290;32157095;32357974;32387766;32897882;32983136;33298915;3346227;33717175;33912179;33968037;34357683;34561969;35580925;36241641", "class_list": "", "function": "Amidase that may catalyze the last step of diphthamide biosynthesis using ammonium and ATP (PubMed:23169644). Diphthamide biosynthesis consists in the conversion of an L-histidine residue in the translation elongation factor (EEF2) to diphthamide (By similarity)., [UniProtKB, PubMed, 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]; The previously uncharacterized human gene ATPBD4 is the ortholog of yeast YLR143W, a diphthamide synthetase, and fully rescues the deletion of YLR143W in yeast., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KWG1;Q96HJ6", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "6.3.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.1.14", "type": "external" } ], "go_molecular_function": "GO:0017178 diphthine-ammonia ligase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0017183 protein histidyl modification to diphthamide", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q7L8W6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5J1-1", "uniprot_id": [ { "id": "DHI1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5J1", "type": "external" } ], "mass": 34288.0, "length": 315, "protein_name": "Hydroxysteroid 11-beta-dehydrogenase 1-like protein", "gene_name": "HSD11B1L", "organism": "Human", "refseq_name": "hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform d", "refseq_ac": [ { "id": "NP_001254798", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254798", "type": "external" } ], "gene_names_uniprotkb": "HSD11B1L; HSD3; SCDR10B; SDR26C2", "gene_names_refseq": "11-DH3; 11-beta-HSD3; HSD11B1L; HSD1L; HSD3; SCDR10B; SCDR10; SDR26C2", "protein_names_uniprotkb": "Hydroxysteroid 11-beta-dehydrogenase 1-like protein; 1.1.1.-; 11-DH3; 11-beta-HSD3; 11-beta-hydroxysteroid dehydrogenase type 3; Short chain dehydrogenase/reductase family 26C member 2; Short-chain dehydrogenase/reductase 10B", "protein_names_refseq": "11-beta-hydroxysteroid dehydrogenase type 3; hydroxysteroid 11-beta-dehydrogenase 1-like protein isoform d; hydroxysteroid 11-beta-dehydrogenase 1-like protein; short chain dehydrogenase/reductase 10; short chain dehydrogenase/reductase family 26C member 2; short-chain dehydrogenase/reductase 10B", "tax_id": 9606, "disease": "", "pathway": " (hsa:374875)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18491316;19413330;19436836;36980235", "class_list": "", "function": "Cloning, purification, and characterization of SCDR10B; highly expressed in brain (especially in hippocampal neurons); up-regulated in lung cancer cell lines and lung cancer tissue, [RefSeq, PubMed]; Interaction of a Novel Alternatively Spliced Variant of HSD11B1L with Parkin Enhances the Carcinogenesis Potential of Glioblastoma: Peiminine Interferes with This Interaction. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]; Unidirectional NADP(+)-dependent cortisol dehydrogenase (in vitro)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q05D45;Q52LF4;Q7Z5I9;Q7Z5J0;Q7Z5P5;Q7Z5P6;Q7Z5P7;Q7Z5P8", "ec_number_list": [ { "id": "1.1.1.146", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.146", "type": "external" }, { "id": "1.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.201", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0102196 cortisol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q7Z5J1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY37-1", "uniprot_id": [ { "id": "DHX37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY37", "type": "external" } ], "mass": 129545.0, "length": 1157, "protein_name": "Probable ATP-dependent RNA helicase DHX37", "gene_name": "DHX37", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DHX37", "refseq_ac": [ { "id": "NP_116045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116045", "type": "external" } ], "gene_names_uniprotkb": "DHX37; DDX37; KIAA1517", "gene_names_refseq": "DDX37; DHX37; Dhr1; NEDBAVC; SRXY11", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DHX37; 3.6.4.13; DEAH box protein 37", "protein_names_refseq": "DEAD/DEAH box helicase DDX37; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 37; DEAH (Asp-Glu-Ala-His) box polypeptide 37; DEAH box protein 37; probable ATP-dependent RNA helicase DHX37", "tax_id": 9606, "disease": "microcephaly (Disease Ontology:DOID:10907); 46,XY complete gonadal dysgenesis (Disease Ontology:DOID:14448); neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies (MONDO:MONDO:0032888); 46,XY sex reversal 11 (MONDO:MONDO:8000015)", "pathway": " (hsa:57647); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 157, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18077418;18438418;18991276;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22424782;22645359;22916032;23391857;23439679;23481700;23482395;2388630;24086612;24366607;24424021;24550520;24714562;25411247;25418920;25525153;25576301;25645385;25653167;25851604;25880248;25892735;25969445;26024233;26085946;26154972;26196125;26237581;26375851;26539891;26728094;26811146;26929215;26992070;27084949;27600516;27846572;27893789;27920218;28063628;28228285;28467828;28514659;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30484775;30582406;30779550;30833945;31154438;31217245;31256877;31287541;31337883;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34293745;34433824;34509645;34516797;34561969;34932366;35051231;35290436;35318648;35561310;35580925;35835064;36010968;36241641;36284347;36581221;37938771;38142677;40596516;9211966;9482744;9512526", "class_list": "", "function": "ATP-binding RNA helicase that plays a role in maturation of the small ribosomal subunit in ribosome biogenesis (PubMed:30582406). Required for the release of the U3 snoRNP from pre-ribosomal particles (PubMed:30582406). 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). Plays a role in early testis development (PubMed:31287541, PubMed:31337883). Probably also plays a role in brain development (PubMed:31256877)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; DHX37 and 46,XY DSD: A New Ribosomopathy? Review article, [RefSeq, PubMed]; DHX37 and the Implications in Disorders of Sex Development: An Update Review. Review article, [RefSeq, PubMed]; Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37., [RefSeq, PubMed]; In 46,XY Gonadal dysgenesis, we identified four heterozygous missense rare variants, classified as pathogenic or likely pathogenic in the Asp-Glu-Ala-His-box (DHX) helicase 37 (DHX37) gene.Two variants were recurrent: p.Arg308Gln and p.Arg674Trp. The variants were specifically associated with embryonic testicular regression syndrome. DHX37 is a player in the complex cascade of male gonadal differentiation and maintenance., [RefSeq, PubMed]; RNA Helicase DHX37 Facilitates Liver Cancer Progression by Cooperating with PLRG1 to Drive Superenhancer-Mediated Transcription of Cyclin D1., [RefSeq, PubMed]; Results identified heterozygous missense pathogenic variants involving DHX37 gene as a new cause of an autosomal dominant form of 46,XY DSD, including gonadal dysgenesis and testicular regression syndrome (TRS), showing that these conditions are part of a clinical spectrum. Some of the variants are clustered in two highly conserved functional domains., [RefSeq, PubMed]; This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 19, "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": "Q9BUI7;Q9P211", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0004386 helicase activity;GO:0034511 U3 snoRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0031965 nuclear membrane;GO:0032040 small-subunit processome", "go_biological_process": "GO:2000020 positive regulation of male gonad development;GO:0007420 brain development;GO:0042254 ribosome biogenesis;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042255 ribosome assembly", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "Q8IY37-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYX4-1", "uniprot_id": [ { "id": "DND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYX4", "type": "external" } ], "mass": 38687.0, "length": 353, "protein_name": "Dead end protein homolog 1", "gene_name": "DND1", "organism": "Human", "refseq_name": "dead end protein homolog 1", "refseq_ac": [ { "id": "NP_919225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919225", "type": "external" } ], "gene_names_uniprotkb": "DND1; RBMS4", "gene_names_refseq": "DND1; RBMS4", "protein_names_uniprotkb": "Dead end protein homolog 1; RNA-binding motif, single-stranded-interacting protein 4", "protein_names_refseq": "RNA-binding motif, single-stranded-interacting protein 4; dead end homolog 1; dead end protein homolog 1", "tax_id": 9606, "disease": "teratocarcinoma (Disease Ontology:DOID:3305)", "pathway": " (hsa:373863)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12932328;18069663;18155131;31848261;33860980;34721738;35051231;35705038;38311675;38390782", "class_list": "", "function": "A cooperative mechanism of target RNA selection via germ-cell-specific RNA-binding proteins NANOS2 and DND1., [RefSeq, PubMed]; Circular RNA circFCHO2(hsa_circ_0002490) promotes the proliferation of melanoma by directly binding to DND1. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning of zebrafish dnd1 and identification of human DND1 by database analysis., [RefSeq, PubMed]; High DND1 Level Indicates a Poor Prognostic Factor in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Human DND1-RRM2 forms a non-canonical domain swapped dimer., [RefSeq, PubMed]; RNA-binding factor that positively regulates gene expression by prohibiting miRNA-mediated gene suppression. Relieves miRNA repression in germline cells (By similarity). Prohibits the function of several miRNAs by blocking the accessibility of target mRNAs. Sequence-specific RNA-binding factor that binds specifically to U-rich regions (URRs) in the 3' untranslated region (3'-UTR) of several mRNAs. Does not bind to miRNAs. May play a role during primordial germ cell (PGC) survival (By similarity). However, does not seem to be essential for PGC migration (By similarity)., [UniProtKB, PubMed]; RNA-binding protein DND1 participates in migration, invasion, and EMT of prostate cancer cells by degrading CLIC4., [RefSeq, PubMed]; The variant, p. Glu86Ala, found in only one case of testiciular germ cell tumor, is within a known functional domain of DND1 and is highly conserved through evolution; mutations in DND1 make, at most, a very small contribution to TGCT susceptibility GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010]., [RefSeq]; Unravels a novel role of Dnd1 in protecting certain mRNAs from miRNA-mediated repression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0060965 negative regulation of miRNA-mediated gene silencing;GO:0007283 spermatogenesis;GO:0048255 mRNA stabilization;GO:0007281 germ cell development;GO:0061158 3'-UTR-mediated mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8IYX4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFT8-1", "uniprot_id": [ { "id": "DNER_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFT8", "type": "external" } ], "mass": 78475.0, "length": 737, "protein_name": "Delta and Notch-like epidermal growth factor-related receptor", "gene_name": "DNER", "organism": "Human", "refseq_name": "delta and Notch-like epidermal growth factor-related receptor precursor", "refseq_ac": [ { "id": "NP_620711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620711", "type": "external" } ], "gene_names_uniprotkb": "DNER; BET; PRO299", "gene_names_refseq": "DNER; UNQ26; bet", "protein_names_uniprotkb": "Delta and Notch-like epidermal growth factor-related receptor", "protein_names_refseq": "H_NH0150O02.1; WUGSC:H_NH0150O02.1; delta and Notch-like epidermal growth factor-related receptor precursor; delta and Notch-like epidermal growth factor-related receptor; delta-notch-like EGF repeat-containing transmembrane", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:92737); (R-HSA-2122948)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10206645;10879540;10882063;11006133;11226752;11740940;11950833;11997712;12209127;12354787;12530964;12975309;14567914;15574878;15652348;15760269;15824097;15829515;15965470;16093323;16284625;16740002;17003037;17028573;17401372;18043734;18077452;18237417;18296446;18628966;18669648;18700817;18824583;18824585;19000840;19151708;19524514;19567869;19726682;20070733;22162134;23090970;23584533;24190977;29557506;31844290;32157095;32387766;32938616;33592498;35051231;36883564;37223028;37373228;38216082;38588830;8313469;9244301;9315665;9462510;9590294;9604939;9620803;9651681;9819428", "class_list": "", "function": "Activator of the NOTCH1 pathway. May mediate neuron-glia interaction during astrocytogenesis (By similarity)., [UniProtKB]; BET protein-dependent E2F pathway activity confers bell-shaped type resistance to tankyrase inhibitors in APC-mutated colorectal cancer., [RefSeq, PubMed]; Co-inhibition of BET and NAE enhances BIM-dependent apoptosis with augmented cancer therapeutic efficacy., [RefSeq, PubMed]; Delta/Notch-like Epidermal Growth Factor-Related Receptor (DNER), a Potential Prognostic Marker of Gastric Cancer Regulates Cell Survival and Cell Cycle Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Expression in developing and mature central nervous system, [RefSeq, PubMed]; MTOR inhibition overcomes RSK3-mediated resistance to BET inhibitors in small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Role of Delta/Notch-like EGF-related receptor in blood glucose homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; The inhibition of DNER protein resulted in an increase in adipocyte maturation, partly via a reduction of cell proliferation through elevation of CCAAT-Enhancer-Binding Protein-delta expression., [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": 4, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A6NP39;Q53R88;Q53TP7;Q53TQ5;Q8IYT0;Q8TB42;Q9NTF1;Q9UDM2", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005509 calcium ion binding;GO:0005112 Notch binding;GO:0030276 clathrin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0006897 endocytosis;GO:0007219 Notch signaling pathway;GO:0001764 neuron migration;GO:0007417 central nervous system development;GO:0007416 synapse assembly", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q8NFT8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDD1-1", "uniprot_id": [ { "id": "DDX54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDD1", "type": "external" } ], "mass": 98595.0, "length": 881, "protein_name": "ATP-dependent RNA helicase DDX54", "gene_name": "DDX54", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DDX54 isoform 1", "refseq_ac": [ { "id": "NP_001104792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104792", "type": "external" } ], "gene_names_uniprotkb": "DDX54", "gene_names_refseq": "DDX54; DP97", "protein_names_uniprotkb": "ATP-dependent RNA helicase DDX54; 3.6.4.13; ATP-dependent RNA helicase DP97; DEAD box RNA helicase 97 kDa; DEAD box protein 54", "protein_names_refseq": "ATP-dependent RNA helicase DDX54 isoform 1; ATP-dependent RNA helicase DDX54; ATP-dependent RNA helicase DP97; DEAD (Asp-Glu-Ala-Asp) box polypeptide 54; DEAD box RNA helicase 97 kDa; DEAD box helicase 97 KDa; DEAD box polypeptide, 97kD; DEAD box protein 54; apoptosis related protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:79039)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "11237011;11790298;12429849;12466272;15635413;16260042;17081983;17322306;18212344;18452278;18669648;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20068231;21406692;23186163;23239230;23481700;24275569;24715725;25418920;25576301;25880248;26154972;26375851;26768311;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28596291;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;30779550;31154438;31256877;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32502341;32712782;32897882;32938616;33141586;33214551;33298915;33392160;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36241641;38632236;38665916;40793791", "class_list": "", "function": "Ddx54 plays an important role in central nervous system myelination, presumably in myelin sheath formation after the differentiation of oligodendrocytes., [RefSeq, PubMed]; Identifies DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (locus 79039) as a novel nucleolar protein in HeLa cells., [RefSeq, PubMed]; Identifies DEAD box polypeptide 54 (similar to RIKEN cDNA 2410015A15 gene) as one of 213 different nucleolar proteins in HeLa cells., [RefSeq, PubMed]; Identifies dead box polypeptide 54 as a 14-3-3-binding protein., [RefSeq, PubMed]; Kinetic analysis of DEAD box helicases, including DEAD box polypeptide 54, in response to transcription inhibition., [RefSeq, PubMed]; Missense mutation in DDX54 gene is associated with neurodevelopmental disorder., [RefSeq, PubMed]; Nucleolar RNA helicase that is involved in diverse cellular processes including ribosome biogenesis, DNA damage response, RNA splicing, transcriptional regulation, innate immunity, and nervous system development. Plays an essential role in the formation of the ribosome active site by remodeling rRNA structure and initiating peptidyl transferase center formation (PubMed:38632236). Represses the transcriptional activity of several nuclear receptors. Regulates transcriptome dynamics during DNA damage response. Mechanistically, acts via increased interaction with a well-defined class of pre-mRNAs that contain introns with weak acceptor splice sites, as well as by protein-protein contacts within components of U2 snRNP and spliceosomal B complex. These activities lead to reduced intron retention and enhanced processing rates of its target transcripts (PubMed:28596291). Acts as an inhibitor of type I interferon antiviral response by facilitating ALKBH5-mediated demethylation of specific transcripts (PubMed:40793791). Contributes to central nervous system myelination, likely through regulation of oligodendrocyte differentiation and myelin sheath formation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; SNHG10/DDX54/PBX3 Feedback Loop Contributes to Gastric Cancer Cell Growth., [RefSeq, PubMed]; This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode 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": 14, "reported_mutagensis": 3, "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": "Q86YT8;Q9BRZ1", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005102 signaling receptor binding;GO:0005524 ATP binding;GO:0003714 transcription corepressor activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006396 RNA processing;GO:0006364 rRNA processing;GO:0030520 estrogen receptor signaling pathway;GO:0016070 RNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8TDD1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUY9-1", "uniprot_id": [ { "id": "DEP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUY9", "type": "external" } ], "mass": 61771.0, "length": 529, "protein_name": "DEP domain-containing protein 1B", "gene_name": "DEPDC1B", "organism": "Human", "refseq_name": "DEP domain-containing protein 1B isoform 2", "refseq_ac": [ { "id": "NP_001138680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138680", "type": "external" } ], "gene_names_uniprotkb": "DEPDC1B; XTP8", "gene_names_refseq": "BRCC3; DEPDC1B; XTP1", "protein_names_uniprotkb": "DEP domain-containing protein 1B; HBV X-transactivated gene 8 protein; HBV XAg-transactivated protein 8", "protein_names_refseq": "DEP domain-containing protein 1B isoform 2; DEP domain-containing protein 1B; HBV X-transactivated gene 8 protein; HBV XAg-transactivated protein 8; HBxAg transactivated protein 1; breast cancer cell 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55789); (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-9013420); (R-HSA-9013423); (R-HSA-9013424); (R-HSA-9035034); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 18, "publication_count": 486, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10652265;10664463;10699171;10699464;10724160;10847683;10873388;10873802;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11459829;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11940653;11948177;11956649;11961559;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221077;12221096;12242347;12244061;12351724;12376551;12432077;12456725;12464619;12473120;12531887;12546821;12547822;12577064;12650940;12665586;12773384;12842009;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;14521508;1464587;14675773;14718541;14732713;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15350535;15485661;15507211;15542837;15546864;15556869;15579468;15601624;15611138;15710388;15728722;15738000;15814684;15850391;15858067;15866170;15897194;15944396;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16339170;16467373;16473593;16481321;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;17269730;17355222;17504809;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17916560;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18662984;18697831;18786931;18802007;18829452;18835169;18838382;18929667;18996843;19064640;19103606;19136556;19258391;19269969;19494238;19534724;19581409;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20233848;20400958;20460433;20547754;20591975;20628200;20660154;20679435;20810653;20811643;20923822;21119010;21148482;21151158;21351730;21373644;21378159;21454492;21508312;21542010;21565175;21576392;21613211;21621533;21685891;21699497;21730051;21757538;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22339630;22407364;22424782;22461490;22475431;22544926;22571869;22608513;22665057;22673745;22734669;22790947;22911862;22970203;22971344;22992742;23029280;23087206;23096567;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24102721;24128008;24259668;24297911;24335996;24352656;24355937;24397554;24584464;24623723;24659802;24690281;24714562;24715725;24859002;24933155;24960694;24971537;24996924;25024229;25091805;25211221;25418920;25425145;25428919;25576301;25645385;25668492;25673874;25678704;25704760;25721503;25746724;25795300;25862245;25888806;25892735;25963737;26016997;26129894;26154972;26299518;26371245;26375851;26529257;26598554;26598620;26628301;26811146;26887924;26969432;26992070;27096001;27117132;27145964;27216196;27278019;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27846572;27852748;27920218;27986909;28028151;28112683;28114311;28196833;28228285;28356423;28486133;28584191;28825699;28832583;28834231;28860633;28904123;28947137;29089502;29146911;29242379;29358323;29382922;29493099;29508533;29557506;29769354;29776664;30061681;30315122;30524438;30833945;30853411;31105010;31217245;31222486;31389670;31530632;31844290;31871319;32157095;32203420;32302585;32357974;32387766;32488085;32502341;32737221;32897882;32938616;33141586;33298915;33392160;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36241641;37642235;37979396;38614125;38717641;38940035;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649376;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;9531558;9535835;9548756;9582072;9659915;9670022;9705280;9778532;9792683;9822598;9822605;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "DEPDC1B enhances malignant phenotypes of multiple myeloma through upregulating CCNB1 and inhibiting p53 signaling pathway., [RefSeq, PubMed]; DEPDC1B is a Novel Direct Target of B-Myb and Contributes to Malignant Progression and Immune Infiltration in Lung Adenocarcinoma., [RefSeq, PubMed]; DEPDC1B-mediated USP5 deubiquitination of beta-catenin promotes breast cancer metastasis by activating the wnt/beta-catenin pathway., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Pitx2-mediated repression of Depdc1b expression contributes to the regulation of multiple molecular pathways, such as Rho GTPase signaling., [RefSeq, PubMed]; Proliferation was linked to a novel DEPDC1B-Rac1-ERK1/2 signaling axis in oral cancer cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Taken together, our data demonstrate that DEPDC1B might confer metastasis-related malignant phenotype to NSCLC in a Wnt/beta-catenin dependent manner, providing new insights in developing novel anti-NSCLC strategies. Erratum:[Biochem Biophys Res Commun. 2021 Sep 3;568:195. doi: 10.1016/j.bbrc.2021.07.010. PMID: 34272055], [RefSeq, PubMed]; XTP8 Promotes Ovarian Cancer Progression by Activating AKT/AMPK/mTOR Pathway to Regulate EMT., [RefSeq, PubMed]; ZNF146 regulates cell cycle progression via TFDP1 and DEPDC1B in ovarian cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3R9;B4DUT4;Q86WJ3;Q8IZY6;Q9NUN3;Q9NW57", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "", "go_biological_process": "GO:0016477 cell migration;GO:0035556 intracellular signal transduction;GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 48.7, "record_id": "Q8WUY9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92506-1", "uniprot_id": [ { "id": "DHB8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92506", "type": "external" } ], "mass": 26974.0, "length": 261, "protein_name": "(3R)-3-hydroxyacyl-CoA dehydrogenase", "gene_name": "HSD17B8", "organism": "Human", "refseq_name": "(3R)-3-hydroxyacyl-CoA dehydrogenase", "refseq_ac": [ { "id": "NP_055049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055049", "type": "external" } ], "gene_names_uniprotkb": "HSD17B8; FABGL; HKE6; RING2; SDR30C1", "gene_names_refseq": "D6S2245E; FABGL; FABG; H2-KE6; HKE6; HSD17B8; KE6; RING2; SDR30C1; dJ1033B10.9", "protein_names_uniprotkb": "(3R)-3-hydroxyacyl-CoA dehydrogenase; 1.1.1.239; 1.1.1.62; 1.1.1.n12; 17-beta-HSD 8; 17-beta-hydroxysteroid dehydrogenase 8; 3-ketoacyl-[acyl-carrier-protein] reductase alpha subunit; 3-oxoacyl-[acyl-carrier-protein] reductase; Estradiol 17-beta-dehydrogenase 8; HSD17B8; KAR alpha subunit; Ke6; Protein Ke6; Short chain dehydrogenase/reductase family 30C member 1; Testosterone 17-beta-dehydrogenase 8", "protein_names_refseq": "(3R)-3-hydroxyacyl-CoA dehydrogenase; 17-beta-HSD 8; 17-beta-hydroxysteroid dehydrogenase 8; 3-ketoacyl-[acyl-carrier-protein] reductase alpha subunit; 3-oxoacyl-[acyl-carrier-protein] reductase; KAR alpha subunit; estradiol 17-beta-dehydrogenase 8; estrogen 17-oxidoreductase; ke-6; protein Ke6; really interesting new gene 2 protein; short chain dehydrogenase/reductase family 30C member 1; testosterone 17-beta-dehydrogenase 8", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); atrial fibrillation (Disease Ontology:DOID:0060224); autosomal dominant tubulointerstitial kidney disease 4 (Disease Ontology:DOID:0061119); metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); human cytomegalovirus infection (Disease Ontology:DOID:0080827); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); hand, foot and mouth disease (Disease Ontology:DOID:10881); primary biliary cholangitis (Disease Ontology:DOID:12236); toxic shock syndrome (Disease Ontology:DOID:14115); renovascular hypertension (Disease Ontology:DOID:1591); depressive disorder (Disease Ontology:DOID:1596); acute kidney failure (Disease Ontology:DOID:3021); primary hyperaldosteronism (Disease Ontology:DOID:446); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); chronic fatigue syndrome (Disease Ontology:DOID:8544); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7923); (R-HSA-75105)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10229681;12689621;13651131;1371749;15610069;15668256;15907797;16854592;16959974;17898086;17978863;18455495;18852215;19571038;20470824;22102020;22465940;23700546;23932781;24286864;24715725;25203508;26992070;27090790;27892461;28510447;28834231;28855257;29242379;30508570;31844290;31848261;32157095;33141586;35051231;35184130;36241641;3805044;5810867;627544;7567999;7732023;7901201;7909540;7916016;8812499;9341199", "class_list": "", "function": "In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Required for the solubility and assembly of the heterotetramer 3-ketoacyl-[acyl carrier protein] (ACP) reductase functional complex (KAR or KAR1) that forms part of the mitochondrial fatty acid synthase (mtFAS). Alpha-subunit of the KAR complex that acts as a scaffold protein required for the stability of carbonyl reductase type-4 (CBR4, beta-subunit of the KAR complex) and for its 3-ketoacyl-ACP reductase activity, thereby participating in mitochondrial fatty acid biosynthesis. Catalyzes the NAD-dependent conversion of (3R)-3-hydroxyacyl-CoA into 3-ketoacyl-CoA (3-oxoacyl-CoA) with no chain length preference; this enzymatic activity is not needed for the KAR function (PubMed:19571038, PubMed:25203508, PubMed:30508570). Prefers (3R)-3-hydroxyacyl-CoA over (3S)-3-hydroxyacyl-CoA and displays enzymatic activity only in the presence of NAD(+) (PubMed:19571038). Cooperates with enoyl-CoA hydratase 1 in mitochondria, together they constitute an alternative route to the auxiliary enzyme pathways for the breakdown of Z-PUFA (cis polyunsaturated fatty acid) enoyl-esters (Probable) (PubMed:30508570). NAD-dependent 17-beta-hydroxysteroid dehydrogenase with highest activity towards estradiol (17beta-estradiol or E2). Has very low activity towards testosterone and dihydrotestosterone (17beta-hydroxy-5alpha-androstan-3-one). Primarily an oxidative enzyme, it can switch to a reductive mode determined in the appropriate physiologic milieu and catalyze the reduction of estrone (E1) to form biologically active 17beta-estradiol (PubMed:17978863)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Obesity-Related Metabolic Gene HSD17B8 Protects Against Breast Cancer: High RNA/Protein Expression Means a Better Prognosis. 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": 5, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NLX7;Q5STP7;Q9UIQ1", "ec_number_list": [ { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "4.2.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.107", "type": "external" }, { "id": "4.2.1.119", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.119", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.330", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.330", "type": "external" }, { "id": "1.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.100", "type": "external" }, { "id": "1.6.5.10", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.10", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" } ], "go_molecular_function": "GO:0048038 quinone binding;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0047035 testosterone dehydrogenase (NAD+) activity;GO:0070404 NADH binding;GO:0106386 (3R)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005759 mitochondrial matrix;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0006633 fatty acid biosynthetic process;GO:0051290 protein heterotetramerization;GO:0006703 estrogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q92506-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99543-1", "uniprot_id": [ { "id": "DNJC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99543", "type": "external" } ], "mass": 71996.0, "length": 621, "protein_name": "DnaJ homolog subfamily C member 2", "gene_name": "DNAJC2", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 2 isoform 2", "refseq_ac": [ { "id": "NP_001123359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123359", "type": "external" } ], "gene_names_uniprotkb": "DNAJC2; MPHOSPH11; MPP11; ZRF1", "gene_names_refseq": "DNAJC2; MPHOSPH11; MPP11; ZRF1; ZUO1", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 2; M-phase phosphoprotein 11; Zuotin-related factor 1", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 2; M-phase phosphoprotein 11; dnaJ homolog subfamily C member 2 isoform 2; dnaJ homolog subfamily C member 2; zuotin-related factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27000); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10954706;11034098;11237011;11747420;12800198;12853476;12917326;12974469;14696097;15364926;15802566;1586970;16002468;16278218;17081983;17242690;17287340;1754405;18235501;18235502;18452278;18550409;18669648;18767875;19229036;19651622;19664994;19690332;19914676;20068231;20231810;21179169;21406692;22223895;22465953;22541429;22735644;22940245;23186163;23349863;23481700;25418920;25576301;25892735;26992070;28218747;28242756;28514659;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30833945;31154438;31217245;31291378;31844290;31848261;32157095;32350084;32357974;32387766;32897882;32938616;32983136;33141586;33592498;33633747;33691108;33717175;33968037;34087483;34165158;34405274;34509645;34561969;34579723;34782741;35051231;35251023;35580925;36010968;36284347;37217939;39302247;39531497;40914422;7585962;8721986;8885239;8946918;9305631;9873016;9920933", "class_list": "", "function": "Acts both as a chaperone in the cytosol and as a chromatin regulator in the nucleus. When cytosolic, acts as a molecular chaperone: component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, stimulates the ATPase activity of the ribosome-associated pool of Hsp70-type chaperones HSPA14 that bind to the nascent polypeptide chain. When nuclear, mediates the switching from polycomb-repressed genes to an active state: specifically recruited at histone H2A ubiquitinated at 'Lys-119' (H2AK119ub), and promotes the displacement of the polycomb PRC1 complex from chromatin, thereby facilitating transcription activation., [UniProtKB, PubMed, PubMed, PubMed]; Concluded that Mpp11, an ortholog of yeast Zuo, is a ribosome-associated J protein; proposed that in metazoans, ribosome-associated Zuo and Mpp11 orthologs recruit cytosolic Hsc70 to short ribosome-bound nascent chains as they exit the ribosome, [RefSeq, PubMed]; DNAJC2 is reversely regulated by miR6273p, promoting the proliferation of colorectal cancer., [RefSeq, PubMed]; P113 isoform encoded by CUX1 circular RNA drives tumor progression via facilitating ZRF1/BRD4 transactivation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4VCI0;Q9BVX1", "ec_number_list": [], "go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0042393 histone binding;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051083 'de novo' cotranslational protein folding;GO:0006351 DNA-templated transcription;GO:1900034 regulation of cellular response to heat;GO:0045893 positive regulation of DNA-templated transcription;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q99543-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BPW9-1", "uniprot_id": [ { "id": "DHRS9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BPW9", "type": "external" } ], "mass": 35227.0, "length": 319, "protein_name": "Dehydrogenase/reductase SDR family member 9", "gene_name": "DHRS9", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 9 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001135742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135742", "type": "external" } ], "gene_names_uniprotkb": "DHRS9; PRO1773; RDH15; SDR9C4", "gene_names_refseq": "3-alpha-HSD; 3ALPHA-HSD; DHRS9; RDH-TBE; RDH15; RDHL; RDHTBE; RETSDR8; SDR9C4; hRoDH-E2", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 9; 1.1.1.105; 1.1.1.209; 1.1.1.53; 3-alpha hydroxysteroid dehydrogenase; 3-alpha-HSD; NADP-dependent retinol dehydrogenase/reductase; RDH-E2; RDH-TBE; RDHL; Retinol dehydrogenase 15; Short chain dehydrogenase/reductase family 9C member 4; Short-chain dehydrogenase/reductase retSDR8; Tracheobronchial epithelial cell-specific retinol dehydrogenase", "protein_names_refseq": "3-alpha hydroxysteroid dehydrogenase; NADP-dependent retinol dehydrogenase/reductase; dehydrogenase/reductase (SDR family) member 9; dehydrogenase/reductase SDR family member 9 isoform 1 precursor; retinol dehydrogenase 15; retinol dehydrogenase homolog; short chain dehydrogenase/reductase family 9C member 4; short-chain dehydrogenase/reductase retSDR8; tracheobronchial epithelial cell-specific retinol dehydrogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:10170); (R-HSA-2453902); (R-HSA-5365859)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10075733;10329026;10369264;10617778;10753906;10800688;10839978;11007799;11123914;11237011;11245473;11274389;11294878;11304534;12036956;12177057;12226107;12407145;12618084;12680773;12975309;14532297;14596915;15314061;15471866;15865448;16691198;17255476;18039331;18805086;1889753;19027726;19049981;1925597;19309693;20192770;20801113;21493626;21529158;21621639;21774515;21851338;22019272;22665496;2303470;23220587;2542268;28832583;2935875;29541409;29557506;29789417;3013304;30149992;31154438;3170584;32387766;32752300;33141586;35051231;35251023;35580925;36284347;36340269;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8493914;8884265;9228021;9490294;9541407;9677409;9703434;9705317;9920938", "class_list": "", "function": "3-alpha-hydroxysteroid dehydrogenase that converts 3-alpha-tetrahydroprogesterone (allopregnanolone) to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone (PubMed:11294878, PubMed:29541409). Also plays a role in the biosynthesis of retinoic acid from retinaldehyde (PubMed:11304534, PubMed:12618084). Can utilize both NADH and NADPH., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report. Publication Status: Online-Only, [RefSeq, PubMed]; Dehydrogenase/reductase SDR family member 9 is a moonlighting protein that functions as both a metabolic enzyme and as a transcriptional repressor., [RefSeq, PubMed]; The study findings suggest that DHRS9 might be a useful diagnostic and prognostic marker for oral squamous cell carcinoma, [RefSeq, PubMed]; This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]; Transcription Factor FXR Activates DHRS9 to Inhibit the Cell Oxidative Phosphorylation and Suppress Colon Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "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": "B7Z416;D3DPC1;Q5RKX1;Q9NRA9;Q9NRB0", "ec_number_list": [ { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.1", "type": "external" }, { "id": "1.1.1.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.66", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" } ], "go_molecular_function": "GO:0016854 racemase and epimerase activity;GO:0004022 alcohol dehydrogenase (NAD+) activity;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0016491 oxidoreductase activity;GO:0047023 androsterone dehydrogenase [NAD(P)+] activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0042572 retinol metabolic process;GO:0042904 9-cis-retinoic acid biosynthetic process;GO:0008209 androgen metabolic process;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9BPW9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZS0-1", "uniprot_id": [ { "id": "DNAI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZS0", "type": "external" } ], "mass": 68821.0, "length": 605, "protein_name": "Dynein axonemal intermediate chain 2", "gene_name": "DNAI2", "organism": "Human", "refseq_name": "dynein axonemal intermediate chain 2 isoform 2", "refseq_ac": [ { "id": "NP_001166281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166281", "type": "external" } ], "gene_names_uniprotkb": "DNAI2", "gene_names_refseq": "CILD9; DIC2; DNAI2; oda6", "protein_names_uniprotkb": "Dynein axonemal intermediate chain 2; Axonemal dynein intermediate chain 2", "protein_names_refseq": "dynein axonemal intermediate chain 2 isoform 2; dynein, axonemal, intermediate polypeptide 2", "tax_id": 9606, "disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); primary ciliary dyskinesia 9 (Disease Ontology:DOID:0110622); sensorineural hearing loss (Disease Ontology:DOID:10003); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:64446)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11153919;11237011;18950741;25186273;25232951;28176794;29557506;33139725;34087483;39894887", "class_list": "", "function": "Component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Required for structural and functional integrity of cilia (By similarity). Part of the dynein complex of respiratory cilia., [UniProtKB, UniProtKB]; Component of dynein, a family of motor proteins essential for movement along microtubules. Required for structural and functional integrity of cilia. Part of the dynein complex of respiratory cilia., [UniProtKB, UniProtKB]; DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm., [RefSeq, PubMed]; The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella. Mutations in this gene are associated with primary ciliary dyskinesia type 9. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9J0S6;Q8IUW4;Q9H179;Q9NT53", "ec_number_list": [], "go_molecular_function": "GO:0003777 microtubule motor activity;GO:0045503 dynein light chain binding;GO:0045504 dynein heavy chain binding", "go_cellular_component": "GO:0005874 microtubule;GO:0009897 external side of plasma membrane;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0005858 axonemal dynein complex", "go_biological_process": "GO:0060271 cilium assembly;GO:0007368 determination of left/right symmetry;GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9GZS0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2P9-1", "uniprot_id": [ { "id": "DPH5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2P9", "type": "external" } ], "mass": 31651.0, "length": 285, "protein_name": "Diphthine methyl ester synthase", "gene_name": "DPH5", "organism": "Human", "refseq_name": "diphthine methyl ester synthase isoform a", "refseq_ac": [ { "id": "NP_001070862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070862", "type": "external" } ], "gene_names_uniprotkb": "DPH5; AD-018; CGI-30; HSPC143; NPD015", "gene_names_refseq": "AD-018; CGI-30; DPH5; HSPC143; NEDSFF; NPD015", "protein_names_uniprotkb": "Diphthine methyl ester synthase; 2.1.1.314; Diphthamide biosynthesis methyltransferase", "protein_names_refseq": "DPH5 homolog; diphthamide biosynthesis methyltransferase; diphthine methyl ester synthase isoform a; diphthine methyl ester synthase; diphthine synthase; protein x 0011", "tax_id": 9606, "disease": "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (Disease Ontology:DOID:0070479)", "pathway": " (hsa:51611); (R-HSA-5358493)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10931946;1508200;15485916;18627462;20068231;20559380;23169644;23186163;23468660;23486472;23645155;23971743;24422557;24739148;25352115;25576301;27920218;28228285;28446606;28510447;28904123;29242379;29393594;29493099;29786170;30315122;30429286;30484775;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32897882;32938616;32983136;3346227;33592498;33691108;33968037;34171305;34357683;34509645;34932366;35318648;35482014;35580925;36010968;36215666;36241641;36284347;38665916", "class_list": "", "function": "S-adenosyl-L-methionine-dependent methyltransferase that catalyzes four methylations of the modified target histidine residue in translation elongation factor 2 (EF-2), to form an intermediate called diphthine methyl ester. The four successive methylation reactions represent the second step of diphthamide biosynthesis., [UniProtKB, UniProtKB, PubMed]; The yeast and Chinese hamster homologs of human DPH5 catalyze the trimethylation step in the biosynthesis of diphthamide, [RefSeq, PubMed]; This gene encodes a component of the diphthamide synthesis pathway. Diphthamide is a post-translationally modified histidine residue found only on translation elongation factor 2. It is conserved from archaebacteria to humans, and is targeted by diphtheria toxin and Pseudomonas exotoxin A to halt cellular protein synthesis. The yeast and Chinese hamster homologs of this protein catalyze the trimethylation of the histidine residue on elongation factor 2, resulting in a diphthine moiety that is subsequently amidated to yield diphthamide. 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8JZY6;D3DT62;Q9P017;Q9P0I4;Q9Y319", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.1.1.314", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.314", "type": "external" } ], "go_molecular_function": "GO:0004164 diphthine synthase activity;GO:0141133 diphthine methyl ester synthase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0032259 methylation;GO:0017183 protein histidyl modification to diphthamide", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9H2P9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR30-1", "uniprot_id": [ { "id": "DDX21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR30", "type": "external" } ], "mass": 87344.0, "length": 783, "protein_name": "Nucleolar RNA helicase 2", "gene_name": "DDX21", "organism": "Human", "refseq_name": "nucleolar RNA helicase 2 isoform 2", "refseq_ac": [ { "id": "NP_001243839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243839", "type": "external" } ], "gene_names_uniprotkb": "DDX21", "gene_names_refseq": "DDX21; GUA; GURDB; II/Gu; RH II/Gu; RH-II/GU; RH-II/GuA; RH; gu-alpha", "protein_names_uniprotkb": "Nucleolar RNA helicase 2; 3.6.4.13; DEAD box protein 21; Gu-alpha; Nucleolar RNA helicase Gu; Nucleolar RNA helicase II; RH II/Gu", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box helicase 21; DEAD box protein 21; DEAD-box helicase 21; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21; Gu protein; RNA helicase II/Gu alpha; nucleolar RNA helicase 2 isoform 2; nucleolar RNA helicase 2; nucleolar RNA helicase Gu; nucleolar RNA helicase II", "tax_id": 9606, "disease": "", "pathway": " (hsa:9188); (R-HSA-5250924); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 224, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11237763;11823437;11922599;12068309;12150911;14559904;14654843;15302935;15558034;16037817;16043514;16112985;16408927;16514417;16565220;16603771;16738141;17081983;17189298;17287340;17322306;17353269;17412707;17924679;18065403;18180292;18212344;18438418;18452278;18669648;18707149;18767875;19007248;19106111;19332556;19369195;19413330;19415658;19562805;19564402;19608861;19651622;19664994;19664995;19690332;19691289;19801658;20038530;20056613;20068230;20068231;20166139;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;21559432;21740066;22009320;22072790;22121020;22190735;22195017;22424782;22645359;22869377;22916032;23186163;23301498;23439679;23481700;23482395;23555303;23652018;23667505;23783831;23848194;2388630;24029068;24424021;24550520;24714562;24715725;24901984;24952918;25114211;25260534;25367160;25418920;25470060;25477391;25505266;25525153;25576301;25645385;25810538;25892735;25969445;26024233;26154972;26237581;26375851;26758079;26768311;26811146;26853435;26929215;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28431233;28510447;28649982;28790157;28832583;28834231;28904123;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30444036;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34564892;34725712;34932366;35051231;35083852;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;38760378;38773330;39187490;39285230;39395807;40596516;40914422;8614622;9461305;9482744", "class_list": "", "function": "DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]., [RefSeq]; RNA helicase that acts as a sensor of the transcriptional status of both RNA polymerase (Pol) I and II: promotes ribosomal RNA (rRNA) processing and transcription from polymerase II (Pol II) (PubMed:25470060, PubMed:28790157). Binds various RNAs, such as rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs (PubMed:25470060). In the nucleolus, localizes to rDNA locus, where it directly binds rRNAs and snoRNAs, and promotes rRNA transcription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes (PubMed:25470060, PubMed:25477391). In the nucleoplasm, binds 7SK RNA and is recruited to the promoters of Pol II-transcribed genes: acts by facilitating the release of P-TEFb from inhibitory 7SK snRNP in a manner that is dependent on its helicase activity, thereby promoting transcription of its target genes (PubMed:25470060). Functions as a cofactor for JUN-activated transcription: required for phosphorylation of JUN at 'Ser-77' (PubMed:11823437, PubMed:25260534). Can unwind double-stranded RNA (helicase) and can fold or introduce a secondary structure to a single-stranded RNA (foldase) (PubMed:9461305). Together with SIRT7, required to prevent R-loop-associated DNA damage and transcription-associated genomic instability: deacetylation by SIRT7 activates the helicase activity, thereby overcoming R-loop-mediated stalling of RNA polymerases (PubMed:28790157). Involved in rRNA processing (PubMed:14559904, PubMed:18180292). May bind to specific miRNA hairpins (PubMed:28431233). 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 via the adapter molecule TICAM1 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRIP13 regulates progression of gastric cancer through stabilising the expression of DDX21. Publication Status: Online-Only, [RefSeq, PubMed]; The RNA helicase DDX21 activates YAP to promote tumorigenesis and is transcriptionally upregulated by beta-catenin in colorectal cancer., [RefSeq, PubMed]; U3 snoRNA inter-regulates with DDX21 in the perichromosomal region to control mitosis. 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": 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": 18, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RDL0;Q13436;Q5VX41;Q68D35", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051607 defense response to virus;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "Q9NR30-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR33-1", "uniprot_id": [ { "id": "DPOE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR33", "type": "external" } ], "mass": 12209.0, "length": 117, "protein_name": "DNA polymerase epsilon subunit 4", "gene_name": "POLE4", "organism": "Human", "refseq_name": "DNA polymerase epsilon subunit 4", "refseq_ac": [ { "id": "NP_063949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063949", "type": "external" } ], "gene_names_uniprotkb": "POLE4", "gene_names_refseq": "POLE4; YHHQ1; p12", "protein_names_uniprotkb": "DNA polymerase epsilon subunit 4; DNA polymerase II subunit 4; DNA polymerase epsilon subunit p12", "protein_names_refseq": "DNA polymerase II subunit 4; DNA polymerase epsilon subunit 4; DNA polymerase epsilon subunit p12; polymerase (DNA) epsilon 4, accessory subunit; polymerase (DNA-directed), epsilon 4, accessory subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:56655); (R-HSA-110314); (R-HSA-5651801); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-68952); (R-HSA-68962)", "pathway_count": 12, "publication_count": 123, "publication_id_list": "10373557;10460157;10518787;10523313;10559261;10744741;10757793;10801132;10801849;10846177;10856253;10882098;10959839;10984059;11006276;11095689;11125146;11250913;11601988;11687589;11698410;12045100;12200445;12226657;12444249;14517266;15199127;15590680;15916957;16246722;16337601;16464020;16531995;17000769;17043239;17466625;17466626;17525332;17720710;17948053;18079701;18342608;19074197;19153606;19223468;19279666;19413330;19940136;19941829;20068231;20129063;20227374;21143968;21282463;21628590;22081108;22700975;22859295;22952233;23000965;23143872;23481700;23593430;23686288;23731732;24402227;24449906;24485656;24715725;24768535;25231993;25469497;25576301;26154972;26375851;27846572;27920218;28063628;28228285;28510447;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30217558;30315122;31154438;31844290;31848261;32157095;32265295;32387766;32488085;32502341;32983136;33141586;33298915;33936100;33968037;33981976;34932366;35051231;35580925;36010968;38753485;6094569;6693436;7700386;8078911;8658138;8751446;9214649;9649448;9660782;9699634;9716411;9780000;9875289", "class_list": "", "function": "Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity)., [UniProtKB, PubMed, UniProtKB]; Iochemical analyses establish that POLE3-POLE4 is a histone chaperone that promotes tetrasome formation and DNA supercoiling in vitro. In cells, POLE3-POLE4 binds both newly synthesized and parental histones, and its depletion hinders helicase unwinding and chromatin PCNA unloading and compromises coordinated parental histone retention and new histone deposition, [RefSeq, PubMed]; Loss of POLE3-POLE4 unleashes replicative gap accumulation upon treatment with PARP inhibitors., [RefSeq, PubMed]; POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q53TR2", "ec_number_list": [], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0008622 epsilon DNA polymerase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0140672 ATAC complex", "go_biological_process": "GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q9NR33-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR61-1", "uniprot_id": [ { "id": "DLL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR61", "type": "external" } ], "mass": 74605.0, "length": 685, "protein_name": "Delta-like protein 4", "gene_name": "DLL4", "organism": "Human", "refseq_name": "delta-like protein 4 precursor", "refseq_ac": [ { "id": "NP_061947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061947", "type": "external" } ], "gene_names_uniprotkb": "DLL4; PRO4341", "gene_names_refseq": "AOS6; DLL4; delta4; hdelta2", "protein_names_uniprotkb": "Delta-like protein 4; Delta4; Drosophila Delta homolog 4", "protein_names_refseq": "delta 4; delta ligand 4; delta-like 4 homolog; delta-like 4 protein; delta-like ligand 4; delta-like protein 4 precursor; delta-like protein 4; drosophila Delta homolog 4; notch ligand DLL4; notch ligand delta-2", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); Adams-Oliver syndrome (Disease Ontology:DOID:0060227); polycystic kidney disease (Disease Ontology:DOID:0080322); dilated cardiomyopathy (Disease Ontology:DOID:12930); retinopathy of prematurity (Disease Ontology:DOID:13025); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); transient cerebral ischemia (Disease Ontology:DOID:224); hemangiopericytoma (Disease Ontology:DOID:264); ischemia (Disease Ontology:DOID:326); lung adenocarcinoma (Disease Ontology:DOID:3910); renal cell carcinoma (Disease Ontology:DOID:4450); lung large cell carcinoma (Disease Ontology:DOID:4556); hemangioblastoma (Disease Ontology:DOID:5241); lung small cell carcinoma (Disease Ontology:DOID:5409); varicose veins (Disease Ontology:DOID:799); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); Adams-Oliver syndrome 6 (MONDO:MONDO:0014703)", "pathway": " (hsa:54567); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2660826); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-9013507); (R-HSA-9013700)", "pathway_count": 9, "publication_count": 106, "publication_id_list": "10.1101/2023.09.13.557529;10079256;10206645;10551863;10713164;10837024;10879540;10882063;10934472;10958687;10964718;11006133;11044625;11134954;11171333;11226752;11518718;11740940;11823422;11861489;12050117;12209127;12354787;12391150;12530964;12975309;14567914;14980219;15107403;15340161;15533827;15546612;15569487;15574878;15652348;15760269;15824097;15829515;15965470;16093323;16284625;16530044;16738328;16773578;17003037;17028573;17114293;17401372;17646408;17646409;17728344;18043734;18077452;18237417;18296446;1831692;18374649;1840698;18418349;18469519;18628966;18700817;18824583;18824585;19000840;19151708;19208840;19524514;19567869;19726682;20156974;20616313;20972443;21632553;22162134;22658935;22658936;24842903;25125655;25356737;25740432;26299364;29856954;29856955;3153318;37971882;38346959;38973459;39167432;39390606;7566092;7588063;803282;8313469;9207787;9207788;9244301;9315665;9384573;9462510;9590294;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "Astrocytic DLL4-NOTCH1 signaling pathway promotes neuroinflammation via the IL-6-STAT3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0006476 modulates macrophage apoptosis through the miR-3074-5p/DLL4 axis: implications for Notch signalling pathway regulation in cardiovascular disease., [RefSeq, PubMed]; DLL4/Notch3/WNT5B axis mediates bidirectional prometastatic crosstalk between melanoma and lymphatic endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the Notch signaling pathway as Notch ligand (PubMed:11134954). Activates NOTCH1 and NOTCH4. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting (PubMed:20616313). Essential for retinal progenitor proliferation. Required for suppressing rod fates in late retinal progenitors as well as for proper generation of other retinal cell types (By similarity). During spinal cord neurogenesis, inhibits V2a interneuron fate (PubMed:17728344)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; KLF13 restrains Dll4-muscular Notch2 axis to improve the muscle atrophy., [RefSeq, PubMed]; Palmitic acid in type 2 diabetes mellitus promotes atherosclerotic plaque vulnerability via macrophage Dll4 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "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": 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": 34, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q3KP23;Q9NQT9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005112 Notch binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0003208 cardiac ventricle morphogenesis;GO:0061074 regulation of neural retina development;GO:0072554 blood vessel lumenization;GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:1903588 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9NR61-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXZ2-1", "uniprot_id": [ { "id": "DDX43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXZ2", "type": "external" } ], "mass": 72844.0, "length": 648, "protein_name": "Probable ATP-dependent RNA helicase DDX43", "gene_name": "DDX43", "organism": "Human", "refseq_name": "probable ATP-dependent RNA helicase DDX43", "refseq_ac": [ { "id": "NP_061135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061135", "type": "external" } ], "gene_names_uniprotkb": "DDX43; HAGE", "gene_names_refseq": "CT13; DDX43; HAGE", "protein_names_uniprotkb": "Probable ATP-dependent RNA helicase DDX43; 3.6.4.13; CT13; Cancer/testis antigen 13; DEAD box protein 43; DEAD box protein HAGE; Helical antigen", "protein_names_refseq": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 43; DEAD box protein HAGE; DEAD-box protein 43; cancer/testis antigen 13; helical antigen; probable ATP-dependent RNA helicase DDX43", "tax_id": 9606, "disease": "", "pathway": " (hsa:55510)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10919659;11230166;17487488;20058853;30379171;31623828;32938616;34105800;35051231;37200388;38807916", "class_list": "", "function": "DDX43 mRNA expression and protein levels in relation to clinicopathological profile of breast cancer. Erratum:[PLoS One. 2024 Dec 26;19(12):e0316591. doi: 10.1371/journal.pone.0316591. PMID: 39724251] Publication Status: Online-Only, [RefSeq, PubMed]; DDX43 prefers single-strand DNA or RNA with length longer than 12nt and much prefers guanosine than the other three nucleotides. Achievement of the full binding affinity of protein to substrate needs the existence of all domains, and they must be connected. The absence of either of them or the disjunction can result in a decreased binding affinity to substrates, approximately reduced 10-fold., [RefSeq, PubMed]; Effect of DNMT3A R882H Hot Spot Mutations on DDX43 Promoter Methylation in Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; HAGE is a cancer/testis antigen with potential for melanoma immunotherapy, [RefSeq, PubMed]; HAGE protein expression was confirmed in 75% (12/16) of carcinomas as compared to normal tissues Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [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": 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": "B4E0C8;Q6NXR1", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9NXZ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2X0-1", "uniprot_id": [ { "id": "DPM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2X0", "type": "external" } ], "mass": 10094.0, "length": 92, "protein_name": "Dolichol-phosphate mannosyltransferase subunit 3", "gene_name": "DPM3", "organism": "Human", "refseq_name": "dolichol-phosphate mannosyltransferase subunit 3 isoform 1", "refseq_ac": [ { "id": "NP_061846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061846", "type": "external" } ], "gene_names_uniprotkb": "DPM3", "gene_names_refseq": "CDG1O; DPM3; MDDGB15; MDDGC15", "protein_names_uniprotkb": "Dolichol-phosphate mannosyltransferase subunit 3; DPM synthase subunit 3; Dolichol-phosphate mannose synthase subunit 3; Dolichyl-phosphate beta-D-mannosyltransferase subunit 3; MPD synthase subunit 3; Mannose-P-dolichol synthase subunit 3; Prostin-1", "protein_names_refseq": "DPM synthase complex subunit 3; DPM synthase subunit 3; MPD synthase subunit 3; dolichol-phosphate mannose synthase subunit 3; dolichol-phosphate mannosyltransferase subunit 3 isoform 1; dolichol-phosphate mannosyltransferase subunit 3; dolichyl-phosphate beta-D-mannosyltransferase subunit 3; dolichyl-phosphate mannosyltransferase polypeptide 3; mannose-P-dolichol synthase subunit 3; prostin 1; testicular tissue protein Li 58", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); familial male-limited precocious puberty (Disease Ontology:DOID:0111545); Leydig cell hypoplasia (Disease Ontology:DOID:0112259); muscular dystrophy-dystroglycanopathy type B15 (Disease Ontology:DOID:0112376); breast cancer (Disease Ontology:DOID:1612); gonadal disease (Disease Ontology:DOID:2277); Leydig cell tumor (Disease Ontology:DOID:2696); granulosa cell tumor (Disease Ontology:DOID:2999); serous cystadenocarcinoma (Disease Ontology:DOID:3114); mucinous cystadenocarcinoma (Disease Ontology:DOID:3603); DPM3-congenital disorder of glycosylation (MONDO:MONDO:0013049)", "pathway": " (hsa:54344); (R-HSA-162699); (R-HSA-4717374); (R-HSA-4719360); (R-HSA-4719377); (R-HSA-9918432)", "pathway_count": 6, "publication_count": 54, "publication_id_list": "10.1038/emboj.2013.79;10228156;10642597;10642602;10835346;11420690;15669674;17697703;19576565;23109149;23481700;23584533;26154972;26208004;26992070;27383988;28228593;28510447;28803818;29246662;29437277;29557506;30429286;30779550;30833945;30931530;31266720;31469168;31530632;31844290;31848261;32350084;32357974;32387766;32502341;32897882;32938616;33392160;33592498;33717175;33936100;33968037;34171305;34509645;35215835;35251023;35318648;35932216;36010968;36241641;37938771;38665916;38793607;9724629", "class_list": "glycogene", "function": "A recurrent homozygous missense DPM3 variant leads to muscle and brain disease., [RefSeq, PubMed]; Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]., [RefSeq]; Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum., [UniProtKB, PubMed]; Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 113, "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": "Q5SR62;Q5SR63;Q9BXN4;Q9BXN5", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0033185 dolichol-phosphate-mannose synthase complex;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0035269 protein O-linked glycosylation via mannose;GO:0043048 dolichyl monophosphate biosynthetic process;GO:0180047 dolichol phosphate mannose biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9P2X0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBS3-1", "uniprot_id": [ { "id": "DNJB9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBS3", "type": "external" } ], "mass": 25518.0, "length": 223, "protein_name": "DnaJ homolog subfamily B member 9", "gene_name": "DNAJB9", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 9 precursor", "refseq_ac": [ { "id": "NP_036460", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036460", "type": "external" } ], "gene_names_uniprotkb": "DNAJB9; MDG1; PRO1471", "gene_names_refseq": "DNAJB9; ERdj4; MDG-1; MDG1; MST049; MSTP049", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 9; ER-resident protein ERdj4; ERdj4; Endoplasmic reticulum DNA J domain-containing protein 4; Mdg-1; Microvascular endothelial differentiation gene 1 protein", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 9; ER-resident protein ERdj4; dnaJ homolog subfamily B member 9 precursor; dnaJ homolog subfamily B member 9; endoplasmic reticulum DNA J domain-containing protein 4; endoplasmic reticulum DnaJ homolog 4; microvascular endothelial differentiation gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4189); (R-HSA-381038)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10601334;10827079;11230166;11836248;12204115;12975309;15466936;16461360;16539657;18400946;18664523;20166139;21282569;23186163;24715725;26992070;28228285;28832583;28904123;29393594;29508533;29557506;29632046;30429286;30484775;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32488085;32502341;32557205;32622524;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33966034;33968037;35051231;35251023;35561310;35580925;36284347;37561833;37938771;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "Clinicopathological characteristics and outcome of patients with fibrillary glomerulonephritis: DNAJB9 is a valuable histologic marker., [RefSeq, PubMed]; Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins (PubMed:18400946). In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similarity). Also involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Required for survival of B-cell progenitors and normal antibody production (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; DNAJB9 suppresses the metastasis of triple-negative breast cancer by promoting FBXO45-mediated degradation of ZEB1. Publication Status: Online-Only, [RefSeq, PubMed]; DNAJB9-positive monotypic fibrillary glomerulonephritis is not associated with monoclonal gammopathy in the vast majority of patients., [RefSeq, PubMed]; Expression of DNAJB9 and some other genes is more sensitive to SWCNTs in normal human astrocytes than glioblastoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0030544 Hsp70 protein binding;GO:0051787 misfolded protein binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030183 B cell differentiation;GO:0036503 ERAD pathway;GO:0034976 response to endoplasmic reticulum stress;GO:0006986 response to unfolded protein;GO:1903895 negative regulation of IRE1-mediated unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9UBS3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJW3-1", "uniprot_id": [ { "id": "DNM3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJW3", "type": "external" } ], "mass": 43583.0, "length": 386, "protein_name": "DNA (cytosine-5)-methyltransferase 3-like", "gene_name": "DNMT3L", "organism": "Human", "refseq_name": "DNA (cytosine-5)-methyltransferase 3-like isoform 1", "refseq_ac": [ { "id": "NP_037501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037501", "type": "external" } ], "gene_names_uniprotkb": "DNMT3L", "gene_names_refseq": "DNMT3L", "protein_names_uniprotkb": "DNA (cytosine-5)-methyltransferase 3-like", "protein_names_refseq": "DNA (cytosine-5)-methyltransferase 3-like isoform 1; DNA (cytosine-5-)-methyltransferase 3-like; human cytosine-5-methyltransferase 3-like protein", "tax_id": 9606, "disease": "choline deficiency disease (Disease Ontology:DOID:8456)", "pathway": " (hsa:29947); (R-HSA-5334118); (R-HSA-9845323)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10551868;10857753;11237011;12481029;15105426;15861382;16829525;17673620;17687327;17713477;18302924;18772889;18945682;19834512;20630873;20838592;20841325;21163962;21378119;21489993;21706000;21777816;21808299;21808300;21979949;22064703;22348533;23022729;23161542;23752590;24368767;32522876;33369458;33750431;35051231;38308276;38359823", "class_list": "", "function": "Catalytically inactive regulatory factor of DNA methyltransferases that can either promote or inhibit DNA methylation depending on the context (By similarity). Essential for the function of DNMT3A and DNMT3B: activates DNMT3A and DNMT3B by binding to their catalytic domain (PubMed:17687327). Acts by accelerating the binding of DNA and S-adenosyl-L-methionine (AdoMet) to the methyltransferases and dissociates from the complex after DNA binding to the methyltransferases (PubMed:17687327). Recognizes unmethylated histone H3 lysine 4 (H3K4me0) and induces de novo DNA methylation by recruitment or activation of DNMT3 (PubMed:17687327). Plays a key role in embryonic stem cells and germ cells (By similarity). In germ cells, required for the methylation of imprinted loci together with DNMT3A (By similarity). In male germ cells, specifically required to methylate retrotransposons, preventing their mobilization (By similarity). Plays a key role in embryonic stem cells (ESCs) by acting both as an positive and negative regulator of DNA methylation (By similarity). While it promotes DNA methylation of housekeeping genes together with DNMT3A and DNMT3B, it also acts as an inhibitor of DNA methylation at the promoter of bivalent genes (By similarity). Interacts with the EZH2 component of the PRC2/EED-EZH2 complex, preventing interaction of DNMT3A and DNMT3B with the PRC2/EED-EZH2 complex, leading to maintain low methylation levels at the promoters of bivalent genes (By similarity). Promotes differentiation of ESCs into primordial germ cells by inhibiting DNA methylation at the promoter of RHOX5, thereby activating its expression (By similarity)., [UniProtKB, UniProtKB, PubMed]; CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]; DNMT3L inhibits hepatocellular carcinoma progression through DNA methylation of CDO1: insights from big data to basic research. Publication Status: Online-Only, [RefSeq, PubMed]; Decoding the Genetic Alterations in Genes of DNMT Family (DNA Methyl-Transferase) and their Association with Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Stable DNMT3L overexpression in SH-SY5Y neurons recreates a facet of the genome-wide Down syndrome DNA methylation signature. 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": 1, "reported_glycation": 0, "reported_snv": 13, "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": "E9PB42;Q9BUJ4", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0035098 ESC/E(Z) complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0048863 stem cell differentiation;GO:0090310 negative regulation of DNA methylation-dependent heterochromatin formation;GO:0045892 negative regulation of DNA-templated transcription;GO:0045814 negative regulation of gene expression, epigenetic", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9UJW3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTK4-1", "uniprot_id": [ { "id": "F237A_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTK4", "type": "external" } ], "mass": 20560.0, "length": 181, "protein_name": "Protein FAM237A", "gene_name": "FAM237A", "organism": "Human", "refseq_name": "protein FAM237A precursor", "refseq_ac": [ { "id": "NP_001096129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096129", "type": "external" } ], "gene_names_uniprotkb": "FAM237A", "gene_names_refseq": "FAM237A", "protein_names_uniprotkb": "Protein FAM237A", "protein_names_refseq": "protein FAM237A precursor; protein FAM237A", "tax_id": 9606, "disease": "", "pathway": " (hsa:200726)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "32713278;32938616;36853120;37689599", "class_list": "", "function": "A Pilot Screen of a Novel Peptide Hormone Library Identified Candidate GPR83 Ligands., [RefSeq, PubMed]; May activate the G protein-coupled receptor GPR83 (PubMed:32713278, PubMed:36853120, PubMed:37689599). Has orexigenic activity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A1B0GTK4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0FGR8-1", "uniprot_id": [ { "id": "ESYT2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0FGR8", "type": "external" } ], "mass": 102357.0, "length": 921, "protein_name": "Extended synaptotagmin-2", "gene_name": "ESYT2", "organism": "Human", "refseq_name": "extended synaptotagmin-2 isoform 2", "refseq_ac": [ { "id": "NP_065779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065779", "type": "external" } ], "gene_names_uniprotkb": "ESYT2; FAM62B; KIAA1228", "gene_names_refseq": "CHR2SYT; E-Syt2; ESYT2; FAM62B", "protein_names_uniprotkb": "Extended synaptotagmin-2; Chr2Syt; E-Syt2", "protein_names_refseq": "chr2 synaptotagmin; extended synaptotagmin like protein 2; extended synaptotagmin protein 2; extended synaptotagmin-2 isoform 2; family with sequence similarity 62 (C2 domain containing), member B", "tax_id": 9606, "disease": "", "pathway": " (hsa:57488); (R-HSA-9845576)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "11237011;11543631;15107860;15329726;16103222;17081983;17105344;17360437;17687330;17924679;17980653;18317235;18669648;18691976;18767875;19651622;19690332;19940249;20068231;20833364;21406692;22544926;23186163;23290777;23791178;23863933;24275569;24373768;24715725;24847877;25505266;25576301;25645385;25810538;25880248;26202220;26992070;27044890;27600516;27846572;28411811;28510447;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29786170;30220461;31217245;31568712;31844290;32157095;32339554;32350084;32357974;32387766;32502341;32879390;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34185709;34357683;34499882;34509645;35051231;35251023;35580925;36010968;36215666;36241641;36284347;38710213;40596516", "class_list": "", "function": "Circular RNA circESYT2 serves as a microRNA-665 sponge to promote the progression of hepatocellular carcinoma through ENO2., [RefSeq, PubMed]; Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane. Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport. Plays a role in FGF signaling via its role in the rapid internalization of FGFR1 that has been activated by FGF1 binding; this occurs most likely via the AP-2 complex. Promotes the localization of SACM1L at endoplasmic reticulum-plasma membrane contact sites (EPCS) (PubMed:27044890)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The short isoform of extended synaptotagmin-2 controls Ca(2+) dynamics in T cells via interaction with STIM1. 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": 12, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D229;Q69YJ2;Q6UKI4;Q6ZTU0;Q6ZVU1;Q9BQS0;Q9NW47;Q9ULJ2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0005544 calcium-dependent phospholipid binding;GO:0008429 phosphatidylethanolamine binding", "go_cellular_component": "GO:0044232 organelle membrane contact site;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0006897 endocytosis;GO:0061817 endoplasmic reticulum-plasma membrane tethering", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "A0FGR8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D161-1", "uniprot_id": [ { "id": "F221A_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D161", "type": "external" } ], "mass": 33083.0, "length": 298, "protein_name": "Protein FAM221A", "gene_name": "FAM221A", "organism": "Human", "refseq_name": "protein FAM221A isoform 2", "refseq_ac": [ { "id": "NP_001120836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120836", "type": "external" } ], "gene_names_uniprotkb": "FAM221A; C7orf46", "gene_names_refseq": "C7orf46; FAM221A", "protein_names_uniprotkb": "Protein FAM221A", "protein_names_refseq": "protein FAM221A isoform 2; protein FAM221A; uncharacterized protein C7orf46", "tax_id": 9606, "disease": "", "pathway": " (hsa:340277)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;28657654;33912179;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "Q05CG4;Q4G0Q7;Q6P519", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A4D161-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDY0-1", "uniprot_id": [ { "id": "EPAB2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDY0", "type": "external" } ], "mass": 30386.0, "length": 278, "protein_name": "Embryonic polyadenylate-binding protein 2", "gene_name": "PABPN1L", "organism": "Human", "refseq_name": "embryonic polyadenylate-binding protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001073956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073956", "type": "external" } ], "gene_names_uniprotkb": "PABPN1L; EPABP2; PABPNL1", "gene_names_refseq": "PABPN1L; PABPNL1; ePABP2", "protein_names_uniprotkb": "Embryonic polyadenylate-binding protein 2; Embryonic poly(A)-binding protein 2; Embryonic poly(A)-binding protein type II; Poly(A)-binding protein nuclear-like 1; ePABP-2; ePABP2", "protein_names_refseq": "ePABP-2; embryonic poly(A)-binding protein 2; embryonic poly(A)-binding protein type II; embryonic polyadenylate-binding protein 2 isoform 1; embryonic polyadenylate-binding protein 2; poly(A) binding protein nuclear 1 like, cytoplasmic; poly(A)-binding protein nuclear-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:390748); (R-HSA-9820841)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11237011;18483763;31363184;32502391;34647228", "class_list": "", "function": "Binds the poly(A) tail of mRNA., [UniProtKB]; Gene-level analysis further revealed a significant genome-wide association of a microRNA-encoding gene MIR1178 in both the discovery and replication cohorts. Another gene poly(A)-binding protein nuclear 1 like, cytoplasmic (PABPN1L) showed suggestive significance in the discovery cohort (p < 1 x 10(-4)) and was replicated in the replication cohort (p = 0.009)., [RefSeq, PubMed]; Unique PABP2 gene plays a critical role in human embryo cleavage; cDNA has been isolated and sequenced., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A1L3B3;A2VDI2", "ec_number_list": [], "go_molecular_function": "GO:0008143 poly(A) binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NDY0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGS2-1", "uniprot_id": [ { "id": "ERIC4_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGS2", "type": "external" } ], "mass": 14477.0, "length": 130, "protein_name": "Glutamate-rich protein 4", "gene_name": "ERICH4", "organism": "Human", "refseq_name": "glutamate-rich protein 4", "refseq_ac": [ { "id": "NP_001123986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123986", "type": "external" } ], "gene_names_uniprotkb": "ERICH4; C19orf69", "gene_names_refseq": "C19orf69; ERICH4", "protein_names_uniprotkb": "Glutamate-rich protein 4", "protein_names_refseq": "glutamate-rich protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:100170765)", "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": "A6NGS2-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NIJ5-1", "uniprot_id": [ { "id": "F90AK_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIJ5", "type": "external" } ], "mass": 50026.0, "length": 464, "protein_name": "Protein FAM90A20", "gene_name": "FAM90A20", "organism": "Human", "refseq_name": "protein FAM90A20", "refseq_ac": [ { "id": "NP_001410461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001410461", "type": "external" } ], "gene_names_uniprotkb": "FAM90A20; FAM90A20P", "gene_names_refseq": "FAM90A20P; FAM90A20", "protein_names_uniprotkb": "Protein FAM90A20; Protein FAM90A20P", "protein_names_refseq": "family with sequence similarity 90 member A20, pseudogene; protein FAM90A20; putative protein FAM90A20P; putative protein FAM90A20", "tax_id": 9606, "disease": "", "pathway": " (hsa:728430)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "17684299", "class_list": "", "function": "FAM90A20 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NIJ5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKX1-1", "uniprot_id": [ { "id": "F223B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKX1", "type": "external" } ], "mass": 13778.0, "length": 122, "protein_name": "Protein FAM223B", "gene_name": "FAM223B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM223B; CXorf52B; LINC00204B", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM223B", "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": "A6NKX1-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNW6-3", "uniprot_id": [ { "id": "ENO4_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNW6", "type": "external" } ], "mass": 68465.0, "length": 625, "protein_name": "Enolase 4", "gene_name": "ENO4", "organism": "Human", "refseq_name": "enolase 4", "refseq_ac": [ { "id": "NP_001229628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229628", "type": "external" } ], "gene_names_uniprotkb": "ENO4; C10orf134", "gene_names_refseq": "C10orf134; ENO4; ENOS", "protein_names_uniprotkb": "Enolase 4; 2-phospho-D-glycerate hydro-lyase; 4.2.1.11", "protein_names_refseq": "2-phospho-D-glycerate hydro-lyase; enolase 4; enolase family member 4; enolase-like protein ENO4", "tax_id": 9606, "disease": "", "pathway": " (hsa:387712); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10229653;10714828;11371164;11506403;11780755;11851336;12093795;12437512;12616532;1278465;12965206;12965222;13538944;14718531;14722102;15710582;16511037;17804405;18337460;183598;18449899;18613815;1871135;18910716;18910717;18927083;19118303;21949678;22219026;23168256;23446454;23506893;2462567;25648650;2793178;2846554;29557506;2960695;30352225;30410026;30517626;3170585;3208766;32357974;32387766;32488085;3355497;3453121;34782236;3529090;37640479;39894887;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8786021;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626", "class_list": "", "function": "A novel association with advanced primary open-angle glaucoma (POAG) in the EN04 locus was identified putatively in persons of AD. In addition to this finding, this genome-wide association study in POAG patients of AD contributes to POAG genetics by identification of novel signals in prior loci (9p21), [RefSeq, PubMed]; A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility., [RefSeq, PubMed]; Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis (By similarity). May be required for sperm motility and function., [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": "A0A087WZY6;A6NI74;B8ZZN9;J3KNX1", "ec_number_list": [ { "id": "4.2.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.11", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004634 phosphopyruvate hydratase activity", "go_cellular_component": "GO:0000015 phosphopyruvate hydratase complex", "go_biological_process": "GO:0006096 glycolytic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "A6NNW6-3", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B1ANY3-1", "uniprot_id": [ { "id": "F220P_HUMAN", "url": "https://www.uniprot.org/uniprot/B1ANY3", "type": "external" } ], "mass": 29405.0, "length": 271, "protein_name": "Putative protein FAM220BP", "gene_name": "FAM220BP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM220BP; C9orf51", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM220BP; Protein FAM220B pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "B1ANY3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B5ME19-1", "uniprot_id": [ { "id": "EIFCL_HUMAN", "url": "https://www.uniprot.org/uniprot/B5ME19", "type": "external" } ], "mass": 105473.0, "length": 914, "protein_name": "Eukaryotic translation initiation factor 3 subunit C-like protein", "gene_name": "EIF3CL", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit C-like protein", "refseq_ac": [ { "id": "NP_001093131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093131", "type": "external" } ], "gene_names_uniprotkb": "EIF3CL", "gene_names_refseq": "EIF3CL", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit C-like protein", "protein_names_refseq": "eukaryotic translation initiation factor 3 subunit C-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:728689)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "20112406;22898188;23481700;23646949;23783831;24029068;24714562;25418920;25576301;25645385;25892735;26154972;26375851;26811146;26853435;26929215;27543614;27600516;27846572;27862975;27920218;28063628;28159928;28218747;28228285;28446606;28510447;28514659;28832583;28834231;28855257;28860189;29242379;29331515;29393594;29437277;29493099;29508533;29632046;29632711;29769354;29786170;29789417;29930882;30315122;30397120;30410026;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34229054;34405274;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35526384;35561310;35580925;36010968;36241641;36581221;37938771;38665916", "class_list": "", "function": "Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression., [UniProtKB, UniProtKB]; The protein encoded by this gene is a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex. The encoded protein is nearly identical to another protein, eIF3c, from a related gene. The eIF3 complex binds the 40S ribosome and mRNAs to enable translation initiation. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "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:0003723 RNA binding;GO:0003743 translation initiation factor activity;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex;GO:0005852 eukaryotic translation initiation factor 3 complex", "go_biological_process": "GO:0006413 translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "B5ME19-1", "record_type": "protein", "filter_code": "0000000.0000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60825-1", "uniprot_id": [ { "id": "F262_HUMAN", "url": "https://www.uniprot.org/uniprot/O60825", "type": "external" } ], "mass": 58477.0, "length": 505, "protein_name": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2", "gene_name": "PFKFB2", "organism": "Human", "refseq_name": "6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase 2 isoform b", "refseq_ac": [ { "id": "NP_001018063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018063", "type": "external" } ], "gene_names_uniprotkb": "PFKFB2", "gene_names_refseq": "PFK-2/FBPase-2; PFKFB2", "protein_names_uniprotkb": "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2; 6PF-2-K/Fru-2,6-P2ase 2; 6PF-2-K/Fru-2,6-P2ase heart-type isozyme; PFK/FBPase 2", "protein_names_refseq": "6-phosphofructo-2-kinase/fructose-2, 6-bisphosphatase 2 isoform b; 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2; 6PF-2-K/Fru-2,6-P2ASE heart-type isozyme; 6PF-2-K/Fru-2,6-P2ase 2; PFK/FBPase 2; PFKFB, cardiac; fructose-2,6-bisphosphatase, cardiac isozyme", "tax_id": 9606, "disease": "", "pathway": " (hsa:5208); (R-HSA-9634600)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;10095107;10521487;11069105;11237011;11374908;12721358;12853467;1322130;15896703;17924679;18669648;18767875;19413330;19651622;20068231;20112406;20958264;21406692;23186163;23457334;25418920;25576301;25645385;25892735;26154972;26992070;27600516;2837207;2846551;28514659;28904123;29221144;29393594;29557506;30315122;30429286;3052289;30779550;30819197;30833945;31154438;31373491;31844290;31848261;32157095;32265295;32938616;32983136;33298915;33592498;33968037;34357683;34561969;35051231;35059934;35318648;36010968;36284347;36402789;37311985;37864733;38253038;7574501;9211863;9464277;9652401", "class_list": "glycogene", "function": "Knockdown circZNF131 Inhibits Cell Progression and Glycolysis in Gastric Cancer Through miR-186-5p/PFKFB2 Axis., [RefSeq, PubMed]; MiR-21-5p inhibits the growth of brain glioma cells through regulating the glycolysis mediated by PFKFB2. Publication Status: Online-Only, [RefSeq, PubMed]; PFKFB2 is a favorable prognostic biomarker for colorectal cancer by suppressing metastasis and tumor glycolysis., [RefSeq, PubMed]; Synthesis and degradation of fructose 2,6-bisphosphate., [UniProtKB, PubMed]; The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two 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": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 495, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O60824;Q5VVQ3;Q5VVQ4;Q9H3P1", "ec_number_list": [ { "id": "2.7.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.105", "type": "external" }, { "id": "3.1.3.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.46", "type": "external" } ], "go_molecular_function": "GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0003873 6-phosphofructo-2-kinase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0006000 fructose metabolic process;GO:0006096 glycolytic process;GO:0006003 fructose 2,6-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O60825-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60883-1", "uniprot_id": [ { "id": "G37L1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60883", "type": "external" } ], "mass": 52771.0, "length": 481, "protein_name": "G protein-coupled receptor 37-like 1", "gene_name": "GPR37L1", "organism": "Human", "refseq_name": "G-protein coupled receptor 37-like 1 precursor", "refseq_ac": [ { "id": "NP_004758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004758", "type": "external" } ], "gene_names_uniprotkb": "GPR37L1; ETBRLP2", "gene_names_refseq": "ET(B)R-LP-2; ETBR-LP-2; ETBRLP2; GPR37L1", "protein_names_uniprotkb": "G protein-coupled receptor 37-like 1; ETBR-LP-2; Endothelin B receptor-like protein 2", "protein_names_refseq": "G-protein coupled receptor 37-like 1 precursor; endothelin B receptor-like protein 2; endothelin type b receptor-like protein 2; prosaposin receptor GPR37L1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9283); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11237011;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;19413330;20237496;20360844;23234360;23446738;23690594;24366607;24906252;2534964;2649896;27072655;2748346;27496565;2834384;28688853;29242379;29557506;30779550;31154438;3202875;3366244;34100078;34533400;35051231;3525564;36010968;36430934;38530364;3856870;38569927;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9539149;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "G Protein-Coupled Receptor 37L1 Modulates Epigenetic Changes in Human Renal Proximal Tubule Cells. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor (PubMed:27072655). Has been shown to bind the neuroprotective and glioprotective factor prosaposin (PSAP), leading to endocytosis followed by an ERK phosphorylation cascade (PubMed:23690594). However, other studies have shown that prosaposin does not increase activity (PubMed:27072655, PubMed:28688853). It has been suggested that GPR37L1 is a constitutively active receptor which signals through the guanine nucleotide-binding protein G(s) subunit alpha (PubMed:27072655). Participates in the regulation of postnatal cerebellar development by modulating the Shh pathway (By similarity). Regulates baseline blood pressure in females and protects against cardiovascular stress in males (By similarity). Mediates inhibition of astrocyte glutamate transporters and reduction in neuronal N-methyl-D-aspartate receptor activity (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins., [RefSeq, PubMed]; Involvement of GPR37L1 in murine blood pressure regulation and human cardiac disease pathophysiology., [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]; Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine. Publication Status: Online-Only, [RefSeq, PubMed]; Satellite glial GPR37L1 and its ligand maresin 1 regulate potassium channel signaling and pain homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 5, "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": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2R7M9;Q5SXP7;Q86VP7", "ec_number_list": [], "go_molecular_function": "GO:0036505 prosaposin receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0008528 G protein-coupled peptide receptor activity;GO:0042277 peptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043235 receptor complex;GO:0060170 ciliary membrane;GO:0042995 cell projection", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0043410 positive regulation of MAPK cascade;GO:0003085 negative regulation of systemic arterial blood pressure;GO:0034614 cellular response to reactive oxygen species", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O60883-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08246-1", "uniprot_id": [ { "id": "ELNE_HUMAN", "url": "https://www.uniprot.org/uniprot/P08246", "type": "external" } ], "mass": 28518.0, "length": 267, "protein_name": "Neutrophil elastase", "gene_name": "ELANE", "organism": "Human", "refseq_name": "neutrophil elastase preproprotein", "refseq_ac": [ { "id": "NP_001963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001963", "type": "external" } ], "gene_names_uniprotkb": "ELANE; ELA2", "gene_names_refseq": "ELA2; ELANE; GE; HLE; HNE; NE; PMN-E; SCN1", "protein_names_uniprotkb": "Neutrophil elastase; 3.4.21.37; Bone marrow serine protease; Elastase-2; HLE; Human leukocyte elastase; Medullasin; PMN elastase", "protein_names_refseq": "PMN elastase; bone marrow serine protease; elastase 2, neutrophil; elastase-2; granulocyte-derived elastase; leukocyte elastase; medullasin; neutrophil elastase preproprotein; polymorphonuclear elastase; polymorphonuclear leukocyte elastase", "tax_id": 9606, "disease": "severe congenital neutropenia (Disease Ontology:DOID:0050590); mucositis (Disease Ontology:DOID:0080178); COVID-19 (Disease Ontology:DOID:0080600); severe congenital neutropenia 1 (Disease Ontology:DOID:0080625); pleurisy (Disease Ontology:DOID:10247); disseminated intravascular coagulation (Disease Ontology:DOID:11247); toxic shock syndrome (Disease Ontology:DOID:14115); essential thrombocythemia (Disease Ontology:DOID:2224); transient cerebral ischemia (Disease Ontology:DOID:224); suppurative periapical periodontitis (Disease Ontology:DOID:2562); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); cyclic hematopoiesis (Disease Ontology:DOID:5339); periodontitis (Disease Ontology:DOID:824); polycythemia vera (Disease Ontology:DOID:8997); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:1991); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-5620971); (R-HSA-6798695); (R-HSA-6803157); (R-HSA-977606); (R-HSA-9911233)", "pathway_count": 9, "publication_count": 325, "publication_id_list": "37639587;10049780;10229672;10386589;10531307;10551873;10581030;1067618;10706100;10809722;10947984;10986281;11001877;11013208;11119712;11120840;11313366;11375993;11389039;11577169;11675333;11694537;11830519;11872628;11927537;11939578;11971875;12055245;12091371;12493837;12579531;12727852;12843408;1311314;1371271;13816;1386357;1390635;14506276;14673143;14739326;1480033;14962902;14973287;15005656;15140022;1522221;15229136;15234972;15257288;15591058;15778384;15826377;15950618;15956276;15958533;16054449;16079145;16133547;16192651;16215847;16336202;16354652;16354654;16374474;1649600;16631740;16799473;16825197;16825321;16897187;16931762;16940129;1698775;16999828;1704217;1707285;17088321;17182573;17332331;17354228;17363965;17436313;17502600;17505110;17567961;17608959;1783204;17964057;18021746;18028488;18160480;18185531;18434311;1859409;18622425;18658137;18673279;1869557;18946670;19010778;19036076;19095652;19159218;19179970;19254208;19415009;19571574;19657146;19714641;19818633;19859801;19927291;2005102;20103720;20142769;20180804;20220065;20382864;20395631;20510021;20676107;20803142;20845358;20974816;21030783;21297635;21425445;21441952;21593211;2159879;21670566;2169257;2169335;2176865;21784848;21787330;21788512;21864727;21935455;22159414;22241472;22262861;22327069;22382088;22455996;2253219;2269296;22701042;22802338;23035980;2322278;23302724;23351986;23426625;23463630;23487775;23650620;2383557;23845380;2420889;24219363;24256734;2462434;2465906;2466593;2481448;2501794;25066128;25075772;25161283;25211214;2537292;25427142;25461571;2546891;2548603;2551898;2557753;25596890;26148048;26274980;26375003;26375851;26508369;27089320;27281216;27378343;27383986;27418190;27726376;2775493;28045099;28074067;2822677;2834383;28392147;2845110;28459430;28574339;28630087;2902087;2911584;29177860;29242379;293688;293746;29539421;29557506;2956252;29661776;2971659;29741879;29856954;29856955;29891674;29898893;29990470;30143555;301546;3038863;3058116;30976076;31113851;31154438;31575892;32109412;32157095;32188940;3223920;32367036;32387766;32434865;32820063;3286634;33141586;33392160;3391280;34171305;3422232;3479752;35051231;3550808;35580925;3640709;36736422;36899106;37074911;37269950;38226800;3848661;38673851;39063160;39098536;4098172;4216367;6214588;6219696;6222381;6230668;6238120;6258630;6263256;6270089;6334079;6454142;6607952;6694361;670886;6906228;702059;7075587;7391570;7542572;7547873;760802;761607;7669817;7690834;7691959;7746327;7780967;7826345;7890645;7890717;7896811;7897245;7961933;7981201;8015608;8194591;8226919;8314771;8345200;8463259;8495193;8530478;8576151;8621565;8626565;8645182;8663255;8692836;8786315;8804434;8920930;8999957;9038722;9065415;9092507;9111081;9115292;9148753;9261109;9346290;9422744;9461298;9523110;9578462;9632662;9651395;9665269;9756476;978134;9852107", "class_list": "", "function": "(Microbial infection) Inhibited reversibly by S.aureus serine protease inhibitors Eap, EapH1 and EapH2, impairing microbicidal activity in neutrophils., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; A review discusses how ELANE mutations provide clues into the pathogenesis of cyclic and severe congenital neutropenia. Review article, [RefSeq, PubMed]; ELANE rs17223045C/T and rs3761007G/A variants: Protective factors against COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]., [RefSeq]; Human Neutrophil Elastase: Characterization of Intra- vs. Extracellular Inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Neutrophil Elastase Degrades Histone Deacetylases and Sirtuin 1 in Primary Human Monocyte Derived Macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Serine protease that modifies the functions of natural killer cells, monocytes and granulocytes (PubMed:15140022). Shows microbicidal activity in neutrophils by mediating cleavage and degradation of bacterial proteins (PubMed:10947984, PubMed:25161283). Capable of killing E.coli but not S.aureus in vitro; digests outer membrane protein A (ompA) in E.coli and K.pneumoniae (PubMed:10947984). Involved for the formation of neutrophil extracellular traps (NETs): translocates into the nucleus downstream of MPO and mediates degadation of histone H4, thereby participating to chromatin decondensation (PubMed:20974816, PubMed:25066128, PubMed:28574339). NETs are mainly composed of DNA fibers and are released by neutrophils to trap pathogens during inflammation (PubMed:20974816, PubMed:25066128, PubMed:28574339). Inhibits C5a-dependent neutrophil enzyme release and chemotaxis (PubMed:15140022). Promotes cleavage of GSDMB, thereby inhibiting pyroptosis (PubMed:36899106). Promotes blood coagulation (PubMed:20676107). Through the activation of the platelet fibrinogen receptor integrin alpha-IIb/beta-3, potentiates platelet aggregation induced by a threshold concentration of cathepsin G (CTSG) (PubMed:25211214, PubMed:9111081). Cleaves and thus inactivates tissue factor pathway inhibitor (TFPI) (PubMed:20676107, PubMed:25211214)., [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": 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": 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": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 16, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "P09649;Q6B0D9;Q6LDP5", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.4.21.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.5", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.24.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.24", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "type": "external" }, { "id": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.21.39", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.39", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "3.4.24.65", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.65", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.4.21.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.59", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008201 heparin binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0002812 biosynthetic process of antibacterial peptides active against Gram-negative bacteria;GO:0050922 negative regulation of chemotaxis;GO:0070945 neutrophil-mediated killing of gram-negative bacterium;GO:0070947 neutrophil-mediated killing of fungus;GO:1903238 positive regulation of leukocyte tethering or rolling", "synthesized_glycan_count": 0, "hit_score": 34.8, "record_id": "P08246-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7U0-1", "uniprot_id": [ { "id": "ELFN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7U0", "type": "external" } ], "mass": 90477.0, "length": 828, "protein_name": "Protein ELFN1", "gene_name": "ELFN1", "organism": "Human", "refseq_name": "protein ELFN1 precursor", "refseq_ac": [ { "id": "NP_001122108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108", "type": "external" } ], "gene_names_uniprotkb": "ELFN1; PPP1R28", "gene_names_refseq": "DONDS; ELFN1; PPP1R28", "protein_names_uniprotkb": "Protein ELFN1; Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1; Protein phosphatase 1 regulatory subunit 28", "protein_names_refseq": "extracellular leucine-rich repeat and fibronectin type III containing 1; extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1; protein ELFN1 precursor; protein ELFN1; protein phosphatase 1 regulatory subunit 28", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419); Dursun-Ozgul neurodevelopmental syndrome (MONDO:MONDO:0979898)", "pathway": " (hsa:392617)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;19389623;22424782;22898188;24190977;24275569;25047565;25645385;26992070;27846572;28228285;28657654;29242379;29508533;29557506;29686062;30429286;30524438;31844290;32350084;32387766;32897882;32938616;33981976;34171305;34405274;34452636;34509675;35051231;35251023;36010968;36241641;37074911;38986898;40576023", "class_list": "", "function": "Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity., [RefSeq, PubMed]; Damaging missense mutations of ELFN1, that are clustered in the carboxy-terminal region required for mGluR7 recruitment, are found in patients with epilepsy and attention deficit hyperactivity disorder. Publication Status: Online-Only, [RefSeq, PubMed]; ELFN1 is a new extracellular matrix (ECM)-associated protein., [RefSeq, PubMed]; Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes., [UniProtKB, PubMed, UniProtKB]; The binding specificity of ELFN1 and found it to be recruited selectively to all group III mGluRs (mGluR4, mGluR6, mGluR7, and mGluR8), but not other mGluR species., [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "H3BS57", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043679 axon terminus;GO:0060076 excitatory synapse", "go_biological_process": "GO:0050808 synapse organization;GO:0007268 chemical synaptic transmission;GO:0045184 establishment of protein localization;GO:0099560 synaptic membrane adhesion", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P0C7U0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7X0-1", "uniprot_id": [ { "id": "F90AO_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7X0", "type": "external" } ], "mass": 49829.0, "length": 464, "protein_name": "Protein FAM90A24", "gene_name": "FAM90A24", "organism": "Human", "refseq_name": "protein FAM90A24", "refseq_ac": [ { "id": "NP_001410459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001410459", "type": "external" } ], "gene_names_uniprotkb": "FAM90A24; FAM90A24P", "gene_names_refseq": "FAM90A24P; FAM90A24", "protein_names_uniprotkb": "Protein FAM90A24", "protein_names_refseq": "family with sequence similarity 90 member A24, pseudogene; protein FAM90A24; putative protein FAM90A24P", "tax_id": 9606, "disease": "", "pathway": " (hsa:441332)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "17684299;30379171", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8MWA1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C7X0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG43-1", "uniprot_id": [ { "id": "F157C_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG43", "type": "external" } ], "mass": 43408.0, "length": 387, "protein_name": "Putative protein FAM157C", "gene_name": "FAM157C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM157C", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM157C", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "31092671;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": "P0CG43-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DO92-1", "uniprot_id": [ { "id": "ENOL_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DO92", "type": "external" } ], "mass": 9002.0, "length": 83, "protein_name": "Putative protein T-ENOL", "gene_name": "CDIPTOSP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CDIPTOSP; CDIPT-AS1; T-ENOL", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein T-ENOL; CDIP transferase opposite strand, pseudogene; CDIPT antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "P0DO92-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21709-1", "uniprot_id": [ { "id": "EPHA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21709", "type": "external" } ], "mass": 108127.0, "length": 976, "protein_name": "Ephrin type-A receptor 1", "gene_name": "EPHA1", "organism": "Human", "refseq_name": "ephrin type-A receptor 1 precursor", "refseq_ac": [ { "id": "NP_005223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005223", "type": "external" } ], "gene_names_uniprotkb": "EPHA1; EPHT1; EPHT; EPH", "gene_names_refseq": "EPHA1; EPHT1; EPHT; EPH", "protein_names_uniprotkb": "Ephrin type-A receptor 1; 2.7.10.1; EPH tyrosine kinase 1; EPH tyrosine kinase; Erythropoietin-producing hepatoma receptor; Tyrosine-protein kinase receptor EPH; hEpha1", "protein_names_refseq": "eph tyrosine kinase 1; ephrin type-A receptor 1 precursor; ephrin type-A receptor 1; erythropoietin-producing hepatoma amplified sequence; erythropoietin-producing hepatoma receptor; hEpha1; oncogene EPH; tyrosine-protein kinase receptor EPH", "tax_id": 9606, "disease": "", "pathway": " (hsa:2041); (R-HSA-2682334); (R-HSA-2892247); (R-HSA-3928663); (R-HSA-3928665)", "pathway_count": 5, "publication_count": 89, "publication_id_list": "10209961;10369740;10769020;10848605;11179879;11448999;11751684;11780069;11855863;12065233;12084815;12495863;12973357;14681828;15277698;15342941;15351694;15848799;15848800;15955829;16153702;16397896;16511561;16670092;16846370;16862074;16954206;16964243;16978057;17068183;1715580;17204602;17267691;17322526;17344846;17389395;17428795;17506876;17567999;17572666;17634955;17928214;18212089;18366076;18388306;18593464;18653770;18713744;18728013;19118217;19128516;19440552;19525919;19544431;19664994;19696931;19829295;20043122;20496116;20505756;20505821;20526341;20549704;20596523;20616345;20624125;20872845;21049019;21406692;22215994;22887036;24218367;2825356;29493099;29557506;32224528;32266818;32387766;33968037;35051231;35154160;36214254;36835041;38184788;7545930;7688835;9354794;9499402;9807024", "class_list": "", "function": "Alzheimer's disease-associated P460L variant of EphA1 dysregulates receptor activity and blood-brain barrier function., [RefSeq, PubMed]; EphA1 receptor tyrosine kinase is localized to the nucleus in rhabdomyosarcoma from multiple species., [RefSeq, PubMed]; Expression of cancer stem cell markers CD24, EPHA1 and CD9 and their correlation with clinical outcome in epithelial ovarian tumours., [RefSeq, PubMed]; Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Also plays a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis., [UniProtKB, PubMed, PubMed, PubMed]; SOCS2 affects the proliferation, migration and invasion of nasopharyngeal carcinoma cells via regulating EphA1., [RefSeq, PubMed]; The EphA1 and EphA2 Signaling Modulates the Epithelial Permeability in Human Sinonasal Epithelial Cells and the Rhinovirus Infection Induces Epithelial Barrier Dysfunction via EphA2 Receptor Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "A1L3V3;B5A966;B5A967;Q15405", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0001968 fibronectin binding;GO:0005005 transmembrane-ephrin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex", "go_biological_process": "GO:0001525 angiogenesis;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0030335 positive regulation of cell migration;GO:0030336 negative regulation of cell migration;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "P21709-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28715-1", "uniprot_id": [ { "id": "ERCC5_HUMAN", "url": "https://www.uniprot.org/uniprot/P28715", "type": "external" } ], "mass": 133108.0, "length": 1186, "protein_name": "DNA excision repair protein ERCC-5", "gene_name": "ERCC5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERCC5; ERCM2; XPGC; XPG", "gene_names_refseq": "", "protein_names_uniprotkb": "DNA excision repair protein ERCC-5; 3.1.-.-; DNA repair protein complementing XP-G cells; XPG; Xeroderma pigmentosum group G-complementing protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "disease by infectious agent (Disease Ontology:DOID:0050117); cerebrooculofacioskeletal syndrome 3 (Disease Ontology:DOID:0080913); xeroderma pigmentosum group G (Disease Ontology:DOID:0110849); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); melanoma (Disease Ontology:DOID:1909); larynx cancer (Disease Ontology:DOID:2596); Cockayne syndrome (Disease Ontology:DOID:2962); high grade glioma (Disease Ontology:DOID:3070); coronary artery disease (Disease Ontology:DOID:3393); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:2073); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-6782135)", "pathway_count": 4, "publication_count": 181, "publication_id_list": "10447254;10526214;10734143;11007478;11141066;11228268;11237011;11266544;11278856;11511374;11841555;12060391;12080057;14517266;14688016;14726017;15220921;15302935;15590680;15944288;16030353;16195237;16246722;16491090;16537713;16646069;16738949;17000769;17081983;17322306;17466625;17466626;17948053;18079701;18452278;18491316;18614043;18669648;18691976;18701435;18767875;19056823;19157633;19279666;19413330;19415658;19608861;19651622;19661379;19664994;19664995;19713942;19940136;19941824;20058876;20068231;20166139;20227374;20368362;20876134;21282463;21424776;22081108;22213216;22424782;22544926;23038248;23045548;23255472;23352696;23626689;23751493;24061640;24366607;24402227;24700531;24714562;24715725;24737519;24782167;25023406;25154395;25231183;25279219;25332048;25538220;25550928;25576301;25824708;25987016;26042670;26151477;26154972;26812207;26833090;26992070;27600516;27846572;28063628;28218747;28228285;28514659;28832583;28834231;28860189;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30410026;30524438;30533531;31217245;31253769;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32522879;32821917;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37938771;7510366;7559382;7651464;7700386;7951246;8078765;8078911;8088806;8090225;8206890;8413238;8483504;8692841;9096355;9130708;9305916;9699634;9716411;9771713;9927729", "class_list": "", "function": "Single-stranded structure-specific DNA endonuclease involved in DNA excision repair (PubMed:32522879, PubMed:32821917, PubMed:7651464, PubMed:8078765, PubMed:8090225, PubMed:8206890). Makes the 3'incision in DNA nucleotide excision repair (NER) (PubMed:32522879, PubMed:32821917, PubMed:8078765, PubMed:8090225). Binds and bends DNA repair bubble substrate and breaks base stacking at the single-strand/double-strand DNA junction of the DNA bubble (PubMed:32522879). Plays a role in base excision repair (BER) by promoting the binding of DNA glycosylase NTHL1 to its substrate and increasing NTHL1 catalytic activity that removes oxidized pyrimidines from DNA (PubMed:9927729). Involved in transcription-coupled nucleotide excision repair (TCR) which allows RNA polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes (PubMed:16246722). Functions during the initial step of TCR in cooperation with ERCC6/CSB to recognized stalled RNA polymerase II (PubMed:16246722). Also, stimulates ERCC6/CSB binding to the DNA repair bubble and ERCC6/CSB ATPase activity (PubMed:16246722). Required for DNA replication fork maintenance and preservation of genomic stability (PubMed:26833090, PubMed:32522879). Involved in homologous recombination repair (HRR) induced by DNA replication stress by recruiting RAD51, BRCA2, and PALB2 to the damaged DNA site (PubMed:26833090). In TFIIH stimulates the 5'-3' helicase activity of XPD/ERCC2 and the DNA translocase activity of XPB/ERCC3 (PubMed:31253769). During HRR, binds to the replication fork with high specificity and stabilizes it (PubMed:32522879). Also, acts upstream of HRR, to promote the release of BRCA1 from DNA (PubMed:26833090)., [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 26, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 55, "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": "A6NGT4;Q5JUS4;Q5JUS5;Q7Z2V3;Q8IZL6;Q8N1B7;Q9HD59;Q9HD60", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0008047 enzyme activator activity;GO:0016788 hydrolase activity, acting on ester bonds;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0003684 damaged DNA binding", "go_cellular_component": "GO:0000109 nucleotide-excision repair complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0009411 response to UV;GO:0000724 double-strand break repair via homologous recombination;GO:0006283 transcription-coupled nucleotide-excision repair;GO:0006289 nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "P28715-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30040-1", "uniprot_id": [ { "id": "ERP29_HUMAN", "url": "https://www.uniprot.org/uniprot/P30040", "type": "external" } ], "mass": 28993.0, "length": 261, "protein_name": "Endoplasmic reticulum resident protein 29", "gene_name": "ERP29", "organism": "Human", "refseq_name": "endoplasmic reticulum resident protein 29 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001029197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029197", "type": "external" } ], "gene_names_uniprotkb": "ERP29; C12orf8; ERP28", "gene_names_refseq": "C12orf8; ERP29; ERp28; ERp31; HEL-S-107; PDI-DB; PDIA9", "protein_names_uniprotkb": "Endoplasmic reticulum resident protein 29; ERp28; ERp29; ERp31; Endoplasmic reticulum resident protein 28; Endoplasmic reticulum resident protein 31", "protein_names_refseq": "endoplasmic reticulum lumenal protein ERp28; endoplasmic reticulum resident protein 28; endoplasmic reticulum resident protein 29 isoform 2 precursor; endoplasmic reticulum resident protein 29; endoplasmic reticulum resident protein 31; epididymis secretory protein Li 107; protein disulfide isomerase family A, member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10961)", "pathway_count": 1, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11271497;12475965;12643545;1286669;17081065;18083107;20068231;21740066;23090970;23481700;24190977;24714562;24715725;25171405;25505266;25576301;25645385;25810538;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28228285;28467828;28514659;28832583;28904123;29242379;29314611;29331515;29508533;29557506;29632711;29786170;29789417;30192525;30315122;30429286;30484775;30524438;30833945;31154438;31217245;31222486;31611695;31844290;31998317;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33360823;33377711;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34019948;34171305;34229054;34667160;35051231;35083852;35154160;35251023;35494241;35561310;35580925;36284347;36825520;37074911;37938771;37958506;38665916;8313870;9738895", "class_list": "", "function": "Dimerization of ER-resident molecular chaperones mediated by ERp29., [RefSeq, PubMed]; Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER., [UniProtKB]; ERp29 Attenuates Nicotine-Induced Endoplasmic Reticulum Stress and Inhibits Choroidal Neovascularization. Publication Status: Online-Only, [RefSeq, PubMed]; ERp29 forms a feedback regulation loop with microRNA-135a-5p and promotes progression of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Euchromatic histone lysine methyltransferase 2 facilitates radioresistance in prostate cancer by repressing endoplasmic reticulum protein 29 transcription., [RefSeq, PubMed]; This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]; [Silencing ERp29 promotes the invasiveness of human PCa cells in vitro: Molecular mechanisms]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9J183;Q3MJC3;Q6FHT4", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005790 smooth endoplasmic reticulum;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0043335 protein unfolding;GO:0006886 intracellular protein transport;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P30040-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P33947-1", "uniprot_id": [ { "id": "ERD22_HUMAN", "url": "https://www.uniprot.org/uniprot/P33947", "type": "external" } ], "mass": 24422.0, "length": 212, "protein_name": "ER lumen protein-retaining receptor 2", "gene_name": "KDELR2", "organism": "Human", "refseq_name": "ER lumen protein-retaining receptor 2 isoform 2", "refseq_ac": [ { "id": "NP_001094073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094073", "type": "external" } ], "gene_names_uniprotkb": "KDELR2; ERD2.2", "gene_names_refseq": "ELP-1; ERD2.2; KDELR2; OI21", "protein_names_uniprotkb": "ER lumen protein-retaining receptor 2; ELP-1; ERD2-like protein 1; KDEL endoplasmic reticulum protein retention receptor 2; KDEL receptor 2", "protein_names_refseq": "(Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; ER lumen protein-retaining receptor 2 isoform 2; ER lumen protein-retaining receptor 2; ERD-2-like protein; ERD2-like protein 1; KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2; KDEL receptor 2", "tax_id": 9606, "disease": "osteogenesis imperfecta type 21 (Disease Ontology:DOID:0112201)", "pathway": " (hsa:11014); (R-HSA-6807878); (R-HSA-6811434)", "pathway_count": 3, "publication_count": 171, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;12388752;12634853;1316805;1325562;14504276;14654841;14742712;15029241;15037235;15272311;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16571679;16633337;16723730;1680566;16912714;16926190;16940185;17113389;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18086916;18182008;18283113;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19296914;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22304919;23396477;23481700;23839779;24119662;24806965;25364732;25418920;25436559;25492864;25502872;25576301;25645385;25892735;26154972;26992070;27058226;28228285;28832583;28834231;29242379;29331515;29557506;29769354;29786170;30192525;30315122;30410026;30524438;30779550;31154438;31217245;31844290;32157095;32350084;32357974;32488085;32645101;32938616;33053334;33298915;33392160;33592498;33717175;33912179;33936100;33964184;33968037;33981976;34087483;34146461;34185709;34357683;34932366;35051231;35251023;35318648;35580925;36010968;37938771;39365189;39894887;7691276;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "Cell-type-specific differences in KDEL receptor clustering in mammalian cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2., [RefSeq, PubMed]; KDELR2 is necessary for chronic obstructive pulmonary disease airway Mucin5AC hypersecretion via an IRE1alpha/XBP-1s-dependent mechanism., [RefSeq, PubMed]; KDELR2 promotes breast cancer proliferation via HDAC3-mediated cell cycle progression., [RefSeq, PubMed]; Membrane receptor that binds the K-D-E-L sequence motif in the C-terminal part of endoplasmic reticulum resident proteins and maintains their localization in that compartment by participating to their vesicle-mediated recycling back from the Golgi (PubMed:1325562, PubMed:18086916, PubMed:33053334). Binding is pH dependent, and is optimal at pH 5-5.4 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D2P4;Q6IPC5;Q96E30", "ec_number_list": [], "go_molecular_function": "GO:0005046 KDEL sequence binding;GO:0046923 ER retention sequence binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030133 transport vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006621 protein retention in ER lumen;GO:0035437 maintenance of protein localization in endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "P33947-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41162-1", "uniprot_id": [ { "id": "ETV3_HUMAN", "url": "https://www.uniprot.org/uniprot/P41162", "type": "external" } ], "mass": 57001.0, "length": 512, "protein_name": "ETS translocation variant 3", "gene_name": "ETV3", "organism": "Human", "refseq_name": "ETS translocation variant 3 isoform 1", "refseq_ac": [ { "id": "NP_001138784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138784", "type": "external" } ], "gene_names_uniprotkb": "ETV3; METS; PE1", "gene_names_refseq": "ETV3; METS; PE-1; PE1", "protein_names_uniprotkb": "ETS translocation variant 3; ETS domain transcriptional repressor PE1; Mitogenic Ets transcriptional suppressor; PE-1", "protein_names_refseq": "ETS domain transcriptional repressor PE1; ETS translocation variant 3 isoform 1; ets variant gene 3, ETS family transcriptional repressor; mitogenic Ets transcriptional suppressor", "tax_id": 9606, "disease": "", "pathway": " (hsa:2117)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "12007404;14754893;17525531;18025162;18991276;19608861;19690332;22028470;23186163;23329352;23481700;23555621;23783831;24029068;25218447;25505266;25576301;25772364;26992070;27543614;27862975;27920218;28228285;28832583;28904123;29393594;29493099;29508533;29557506;29632711;29786170;29877893;30429286;30779550;30833945;31844290;31848261;31937595;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33968037;33981976;34087483;34171305;34211107;35051231;35561310;35580925;36010968;36241641;36284347;36543959;8020980", "class_list": "", "function": "Case Reports/Review: indeterminate dendritic cell tumor lacking the ETV3-NCOA2 translocation. Review article, [RefSeq, PubMed]; Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS., [RefSeq, PubMed]; ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment., [RefSeq, PubMed]; Frequent copy number gains at 1q21 and 1q32 are associated with overexpression of the ETS transcription factors ETV3 and ELF3 in breast cancer irrespective of molecular subtypes., [RefSeq, PubMed]; PE-1/METS is an antiproliferative Ets repressor factor induced by CREB-1/CREM-1 during macrophage differentiation, [RefSeq, PubMed]; The ETV3 expression was strongly induced by the STAT3 pathway regulated by IL-10 but not by STAT3 signaling activated by IL-6, which cannot activate the anti-inflammatory signaling pathway. Erratum:[J Immunol. 2008 Mar 1;180(5):3612. Panopolous, Athanasia [corrected to Panopoulos, Athanasia D]], [RefSeq, PubMed]; Transcriptional repressor that contribute to growth arrest during terminal macrophage differentiation by repressing target genes involved in Ras-dependent proliferation. Represses MMP1 promoter activity., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 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": "B4E3M7;Q8TAC8;Q9BX30", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0017151 DEAD/H-box RNA helicase binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin;GO:0090571 RNA polymerase II transcription repressor complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0097011 cellular response to granulocyte macrophage colony-stimulating factor stimulus", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P41162-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78545-1", "uniprot_id": [ { "id": "ELF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P78545", "type": "external" } ], "mass": 41454.0, "length": 371, "protein_name": "ETS-related transcription factor Elf-3", "gene_name": "ELF3", "organism": "Human", "refseq_name": "ETS-related transcription factor Elf-3", "refseq_ac": [ { "id": "NP_001107781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107781", "type": "external" } ], "gene_names_uniprotkb": "ELF3; ERT; ESX; JEN", "gene_names_refseq": "ELF3; EPR-1; ERT; ESE-1; ESX", "protein_names_uniprotkb": "ETS-related transcription factor Elf-3; E74-like factor 3; ESE-1; Epithelial-restricted with serine box; Epithelium-restricted Ets protein ESX; Epithelium-specific Ets transcription factor 1", "protein_names_refseq": "E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific); E74-like factor 3 (ets domain transcription factor); E74-like factor 3 (ets domain transcription factor, epithelial-specific); ETS-related transcription factor Elf-3; epithelial-restricted with serine box; epithelium-restricted Ets protein ESX; epithelium-specific Ets transcription factor 1; ets domain transcription factor, serine box (epithelial-specific)", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); familial temporal lobe epilepsy 3 (Disease Ontology:DOID:0060750); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); nasal type extranodal NK/T-cell lymphoma (Disease Ontology:DOID:0080797); inflammatory bowel disease 13 (Disease Ontology:DOID:0110893); osteonecrosis (Disease Ontology:DOID:10159); antisocial personality disorder (Disease Ontology:DOID:10939); familial hyperlipidemia (Disease Ontology:DOID:1168); malaria (Disease Ontology:DOID:12365); Behcet's disease (Disease Ontology:DOID:13241); hepatic encephalopathy (Disease Ontology:DOID:13413); cholestasis (Disease Ontology:DOID:13580); cystic fibrosis (Disease Ontology:DOID:1485); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); cannabis dependence (Disease Ontology:DOID:1849); nephroblastoma (Disease Ontology:DOID:2154); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); opiate dependence (Disease Ontology:DOID:2559); asthma (Disease Ontology:DOID:2841); cryoglobulinemia (Disease Ontology:DOID:2917); pulmonary tuberculosis (Disease Ontology:DOID:2957); familial Mediterranean fever (Disease Ontology:DOID:2987); invasive ductal carcinoma (Disease Ontology:DOID:3008); high grade glioma (Disease Ontology:DOID:3070); temporal lobe epilepsy (Disease Ontology:DOID:3328); toxic encephalopathy (Disease Ontology:DOID:3602); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); allergic rhinitis (Disease Ontology:DOID:4481); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); acquired immunodeficiency syndrome (Disease Ontology:DOID:635); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); chronic myeloid leukemia (Disease Ontology:DOID:8552); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); drug dependence (Disease Ontology:DOID:9974); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1999); (R-HSA-1912408)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10391676;10644990;10773884;11036073;11237011;11313868;12032832;12119107;12414801;12624109;12682075;12713734;14715662;14767472;14991602;14997048;15075319;15169914;15472075;15684396;15794755;16307850;16612405;17060315;17344417;17467953;17491012;17540598;17540599;17554337;17685488;17823410;1831692;18669648;19150886;19714243;19723635;19773441;20080834;20090754;20112406;20351093;20442293;20442780;20495621;20801121;20805998;21280156;21402699;21551231;21602795;21875955;22110129;26977885;28218747;28832583;28904123;29101237;29242379;29437277;29557506;29786170;29789417;30315122;30379171;30410026;30476274;30779550;30833945;31154438;31844290;31848261;32265295;33912179;33968037;34087483;34171305;34932366;35051231;35580925;36215666;36284347;37832805;38481803;38627967;38787503;39052836;8878478;9129154;9234700;9336459;9395241;9417054;9693032", "class_list": "", "function": "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]; Expression of CD44 is regulated by ELF3 in 5-FU treated colorectal cancer cells., [RefSeq, PubMed]; HLA-C expression in extravillous trophoblasts is determined by an ELF3-NLRP2/NLRP7 regulatory axis., [RefSeq, PubMed]; Switch of ELF3 and ATF4 transcriptional axis programs the amino acid insufficiency-linked epithelial-to-mesenchymal transition., [RefSeq, PubMed]; Transcriptional activator that binds and transactivates ETS sequences containing the consensus nucleotide core sequence GGA[AT]. Acts synergistically with POU2F3 to transactivate the SPRR2A promoter and with RUNX1 to transactivate the ANGPT1 promoter. Also transactivates collagenase, CCL20, CLND7, FLG, KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. Represses KRT4 promoter activity. Involved in mediating vascular inflammation. May play an important role in epithelial cell differentiation and tumorigenesis. May be a critical downstream effector of the ERBB2 signaling pathway. May be associated with mammary gland development and involution. Plays an important role in the regulation of transcription with TATA-less promoters in preimplantation embryos, which is essential in preimplantation development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; WTAP Mediated N6-methyladenosine RNA Modification of ELF3 Drives Cellular Senescence by Upregulating IRF8. 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": 4, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 43, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Q6;Q6IAP8;Q7RU03;Q7Z3X2;Q8NFG2;Q99718", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P78545-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13216-1", "uniprot_id": [ { "id": "ERCC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13216", "type": "external" } ], "mass": 44055.0, "length": 396, "protein_name": "DNA excision repair protein ERCC-8", "gene_name": "ERCC8", "organism": "Human", "refseq_name": "DNA excision repair protein ERCC-8 isoform 1", "refseq_ac": [ { "id": "NP_000073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000073", "type": "external" } ], "gene_names_uniprotkb": "ERCC8; CKN1; CSA", "gene_names_refseq": "CKN1; CSA; ERCC8; UVSS2", "protein_names_uniprotkb": "DNA excision repair protein ERCC-8; Cockayne syndrome WD repeat protein CSA", "protein_names_refseq": "Cockayne syndrome WD-repeat protein CSA; DNA excision repair protein ERCC-8 isoform 1; DNA excision repair protein ERCC-8; cockayne syndrome WD repeat protein CSA; excision repair cross-complementation group 8; excision repair cross-complementing rodent repair deficiency, complementation group 8", "tax_id": 9606, "disease": "salivary gland carcinoma (Disease Ontology:DOID:0050904); UV-sensitive syndrome (Disease Ontology:DOID:0060240); polycystic kidney disease (Disease Ontology:DOID:0080322); Cockayne syndrome A (Disease Ontology:DOID:0080907); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); hepatic encephalopathy (Disease Ontology:DOID:13413); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); endometrial carcinoma (Disease Ontology:DOID:2871); cervix carcinoma (Disease Ontology:DOID:2893); Cockayne syndrome (Disease Ontology:DOID:2962); glioblastoma (Disease Ontology:DOID:3068); gliosarcoma (Disease Ontology:DOID:3071); bipolar disorder (Disease Ontology:DOID:3312); renal cell carcinoma (Disease Ontology:DOID:4450); esophagus adenocarcinoma (Disease Ontology:DOID:4914); ulcerative colitis (Disease Ontology:DOID:8577)", "pathway": " (hsa:1161); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-8951664)", "pathway_count": 6, "publication_count": 173, "publication_id_list": "10535940;10597293;10811609;10878807;10944529;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11904382;11961546;12101228;12186903;12208738;12504025;12504026;12526791;12538644;12609982;12660172;12682069;12732143;12759363;12816948;14517266;14661080;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15590680;15601839;15652483;15688063;15694336;15744458;15799966;16171779;16246722;16401342;16547496;16647857;16707496;16751180;16790436;16916636;16943200;16964240;17000769;17081101;17132228;17183367;17220875;17290000;17332328;17466625;17466626;17497243;17785452;17948053;17981804;18079701;18093314;18206966;18452278;18614043;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19279666;19321346;19329487;19617556;19651622;19748355;19894250;19940136;20227374;20541997;21070792;21108394;21282463;21406692;21447816;21463634;21778237;21863050;21940857;22081108;22118460;22306028;22466610;22466611;22466612;22466964;22537386;22902626;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23906714;23912815;23973375;23986495;24076655;24127601;24366543;24402227;24636985;24793695;24793696;25154395;25314029;25349211;25355947;25435140;25531226;26344709;26460955;26620705;26632597;26906416;27030794;27222660;27565346;28115426;29153394;29545921;30379171;30610225;31154438;32005965;32142649;32284348;32355176;33444648;34526721;37938771;38316879;38411728;38600235;38600236;39209536;7664335;7700386;8078911;8876179;9326587;9699634;9716411;9790970;9875289;9887101;9891082", "class_list": "", "function": "A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:12732143, PubMed:16751180, PubMed:16964240, PubMed:32142649, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Following recruitment to lesion-stalled RNA polymerase II (Pol II), the CSA complex mediates ubiquitination of Pol II subunit POLR2A/RPB1 at 'Lys-1268', a critical TC-NER checkpoint, governing RNA Pol II stability and initiating DNA damage excision by TFIIH recruitment (PubMed:12732143, PubMed:16751180, PubMed:16964240, PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). The CSA complex also promotes the ubiquitination and subsequent proteasomal degradation of ERCC6/CSB in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair (PubMed:16751180). Also plays a role in DNA double-strand breaks (DSSBs) repair by non-homologous end joining (NHEJ) (PubMed:29545921)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]., [RefSeq]; Transcription-coupled DNA-protein crosslink repair by CSB and CRL4[CSA]-mediated degradation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB64;Q6FHX5;Q96GB9", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0000109 nucleotide-excision repair complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0043204 perikaryon", "go_biological_process": "GO:0097680 double-strand break repair via classical nonhomologous end joining;GO:0006979 response to oxidative stress;GO:0006974 DNA damage response;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010996 response to auditory stimulus", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q13216-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JX69-1", "uniprot_id": [ { "id": "F209B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JX69", "type": "external" } ], "mass": 19499.0, "length": 171, "protein_name": "Protein FAM209B", "gene_name": "FAM209B", "organism": "Human", "refseq_name": "protein FAM209B precursor", "refseq_ac": [ { "id": "NP_001013668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013668", "type": "external" } ], "gene_names_uniprotkb": "FAM209B; C20orf107", "gene_names_refseq": "C20orf107; FAM209B; dJ1153D9.4", "protein_names_uniprotkb": "Protein FAM209B", "protein_names_refseq": "protein FAM209B precursor; protein FAM209B; uncharacterized protein C20orf107", "tax_id": 9606, "disease": "", "pathway": " (hsa:388799)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "30379171;31429579", "class_list": "", "function": "May play a role in sperm acrosome biogenesis., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3KRB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0001669 acrosomal vesicle;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5JX69-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IPT2-1", "uniprot_id": [ { "id": "GAR5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IPT2", "type": "external" } ], "mass": 27609.0, "length": 247, "protein_name": "Golgi-associated RAB2 interactor protein 5A", "gene_name": "GARIN5A", "organism": "Human", "refseq_name": "Golgi-associated RAB2 interactor protein 5A isoform 1", "refseq_ac": [ { "id": "NP_001295358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295358", "type": "external" } ], "gene_names_uniprotkb": "GARIN5A; FAM71E1", "gene_names_refseq": "FAM71E1; GARIL5; GARIN5A", "protein_names_uniprotkb": "Golgi-associated RAB2 interactor protein 5A", "protein_names_refseq": "GARI like 5; Golgi associated RAB2 interactor protein 5A; Golgi-associated RAB2 interactor protein 5A isoform 1; family with sequence similarity 71 member E1; protein FAM71E1", "tax_id": 9606, "disease": "", "pathway": " (hsa:112703)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;18507432;25418920;28930687", "class_list": "", "function": "RAB2B effector protein which promotes cytosolic DNA-induced innate immune responses. Regulates IFN responses against DNA viruses by regulating the CGAS-STING signaling axis., [UniProtKB, UniProtKB]; The RAB2B-GARIL5 complex promotes cytosolic DNA-induced innate immune responses (Golgi-associated Rab2B interactor-like 5 = GARIL5, also known as FAM71E1), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "Q96EJ5;Q9BSM9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0032481 positive regulation of type I interferon production", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6IPT2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0FGR9-1", "uniprot_id": [ { "id": "ESYT3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0FGR9", "type": "external" } ], "mass": 100035.0, "length": 886, "protein_name": "Extended synaptotagmin-3", "gene_name": "ESYT3", "organism": "Human", "refseq_name": "extended synaptotagmin-3 isoform a", "refseq_ac": [ { "id": "NP_001309760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309760", "type": "external" } ], "gene_names_uniprotkb": "ESYT3; FAM62C", "gene_names_refseq": "CHR3SYT; E-Syt3; ESYT3; FAM62C", "protein_names_uniprotkb": "Extended synaptotagmin-3; Chr3Syt; E-Syt3", "protein_names_refseq": "chr3 synaptotagmin; extended synaptotagmin protein 3; extended synaptotagmin-3 isoform a; family with sequence similarity 62 (C2 domain containing), member C", "tax_id": 9606, "disease": "", "pathway": " (hsa:83850); (R-HSA-9845576)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "11237011;11543631;15107860;15329726;16103222;17105344;17360437;17687330;17980653;18317235;18452278;19940249;21733517;23290777;23791178;23863933;25922075;26202220;26811146;30220461;31568712;31844290;32157095;32339554;32488085;34197731;34499882;35051231;37657044", "class_list": "", "function": "Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Tethers the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane., [UniProtKB, PubMed]; Comprehensive analysis of the prognostic values and immune implication of ESYT3 in lung adenocarcinoma., [RefSeq, PubMed]; ESyt2 and ESyt3, but not ESyt1, interact with activated FGFR1. Erratum:[J Biol Chem. 2016 Feb 12;291(7):3173. doi: 10.1074/jbc.A115.656918. PMID: 26873909], [RefSeq, PubMed]; Two haplotype blocks of ESYT3 gene in 3q22.3 region that likely harbor functional variants and have a role in coronary artery disease in females, [RefSeq, PubMed]; Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K0G5;Q6ZV21;Q8NDZ5;Q9BQR9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0008429 phosphatidylethanolamine binding;GO:0031210 phosphatidylcholine binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0044232 organelle membrane contact site;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0009898 cytoplasmic side of plasma membrane;GO:0140268 endoplasmic reticulum-plasma membrane contact site", "go_biological_process": "GO:0006869 lipid transport;GO:0061817 endoplasmic reticulum-plasma membrane tethering", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "A0FGR9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCT9-1", "uniprot_id": [ { "id": "SPP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCT9", "type": "external" } ], "mass": 41488.0, "length": 377, "protein_name": "Signal peptide peptidase", "gene_name": "HM13", "organism": "Human", "refseq_name": "signal peptide peptidase isoform 1", "refseq_ac": [ { "id": "NP_110416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110416", "type": "external" } ], "gene_names_uniprotkb": "HM13; H13; IMP1; MSTP086; PSL3; SPP", "gene_names_refseq": "H13; HM13-IT1; HM13; IMP1; IMPAS-1; IMPAS; MSTP086; PSENL3; PSL3; SPPL1; SPP", "protein_names_uniprotkb": "Signal peptide peptidase; 3.4.23.-; IMP-1; IMPAS-1; Intramembrane protease 1; Minor histocompatibility antigen H13; Presenilin-like protein 3; Signal peptide peptidase-like 1; hIMP1", "protein_names_refseq": "HM13 intronic transcript 1; intramembrane protease 1; minor histocompatibility antigen 13; minor histocompatibility antigen H13; presenilin-like protein 3; signal peptide peptidase beta; signal peptide peptidase isoform 1; signal peptide peptidase like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81502); (R-HSA-9707587)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11714810;12077416;12139484;12145199;12972007;14741365;15385547;15716490;15998642;16730383;17430897;17517891;18991276;19159218;19720873;20068231;23481700;24275569;24715725;24958774;25239945;25418920;25576301;25645385;25892735;26154972;26375851;26992070;27397612;27846572;27862975;28218747;28467828;28904123;29155886;29343547;29437277;29493099;29557506;30315122;30348988;30410026;30484775;31217245;31611695;31844290;32119511;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33392160;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34357683;34509645;34561969;34725712;34932366;35051231;35251023;35318648;35580925;36010968;36153332;36215666;36241641;36284347;37625440;37938771;38218226;38665916", "class_list": "", "function": "Catalyzes intramembrane proteolysis of signal peptides that have been removed from precursors of secretory and membrane proteins, resulting in the release of the fragment from the ER membrane into the cytoplasm (PubMed:12077416, PubMed:15716490, PubMed:17517891). Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides (PubMed:11714810). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:11714810, PubMed:12077416, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Histocompatibility Minor 13 (HM13), targeted by miR-760, exerts oncogenic role in breast cancer by suppressing autophagy and activating PI3K-AKT-mTOR pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and molecular cloning; expression analysis of the hIMP1 gene (located on chromosome 20) was performed in human cell tissues and transfected cell cultures [IMP1], [RefSeq, PubMed]; Identified human signal peptide peptidase as a polytopic membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases [SPP], [RefSeq, PubMed]; Intramembrane protease SPP defines a cholesterol-regulated abundance control of the mevalonate pathway enzyme squalene synthase., [RefSeq, PubMed]; Preproinsulin signal peptide epitopes are processed by SPP and loaded for HLA-guided immune recognition via pathways that are enhanced during type 1 diabetes pathogenesis., [RefSeq, PubMed]; Study demonstrates that SPP is highly induced in lung and breast cancers and promotes tumor progression, at least in part, by facilitating the degradation of mTOR inhibitor FKBP8., [RefSeq, PubMed]; The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of SPP/SPPL intramembrane proteases in membrane protein homeostasis. 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 8, "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": "B2RAY5;E1P5L3;Q15K36;Q540H8;Q5JWP2;Q5JWP3;Q5JWP4;Q5JWP5;Q7Z4F2;Q86Y35;Q95H87;Q9H110;Q9H111", "ec_number_list": [ { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding;GO:0008233 peptidase activity;GO:0042500 aspartic endopeptidase activity, intramembrane cleaving", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0005791 rough endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:1904211 membrane protein proteolysis involved in retrograde protein transport, ER to cytosol;GO:0034599 cellular response to oxidative stress;GO:0033619 membrane protein proteolysis;GO:0006465 signal peptide processing", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q8TCT9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62195-1", "uniprot_id": [ { "id": "PRS8_HUMAN", "url": "https://www.uniprot.org/uniprot/P62195", "type": "external" } ], "mass": 45626.0, "length": 406, "protein_name": "26S proteasome regulatory subunit 8", "gene_name": "PSMC5", "organism": "Human", "refseq_name": "26S proteasome regulatory subunit 8 isoform 2", "refseq_ac": [ { "id": "NP_001186092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186092", "type": "external" } ], "gene_names_uniprotkb": "PSMC5; SUG1", "gene_names_refseq": "PSMC5; RPT6; S8; SUG-1; SUG1; TBP10; TRIP1; YKNS; p45/SUG; p45", "protein_names_uniprotkb": "26S proteasome regulatory subunit 8; 26S proteasome AAA-ATPase subunit RPT6; Proteasome 26S subunit ATPase 5; Proteasome subunit p45; TRIP1; Thyroid hormone receptor-interacting protein 1; p45/SUG", "protein_names_refseq": "26S protease regulatory subunit 8; 26S proteasome AAA-ATPase subunit RPT6; 26S proteasome regulatory subunit 8 isoform 2; 26S proteasome regulatory subunit 8; MSUG1 protein; Tat-binding protein homolog 10; proteasome (prosome, macropain) 26S subunit, ATPase, 5; proteasome 26S ATPase subunit 5; proteasome subunit p45; testicular tissue protein Li 149; thyroid hormone receptor-interacting protein 1; thyroid receptor interactor 1", "tax_id": 9606, "disease": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Disease Ontology:DOID:0050881); Alzheimer's disease (Disease Ontology:DOID:10652); cancer (Disease Ontology:DOID:162); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); myopathy (Disease Ontology:DOID:423)", "pathway": " (hsa:5705); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 68, "publication_count": 1047, "publication_id_list": "10.1101/2023.09.13.557529;10023660;10066435;10075690;10092233;10187770;10196136;10205060;10215629;10230406;10321728;10323868;10339564;10375532;10409732;10411507;10421629;10433824;10444327;10470034;10484077;10514424;10514433;10535940;10559216;10559916;10564661;10572046;10581160;10593898;10597293;10665657;10679238;10693759;10698680;10702308;10716940;10733526;10748049;10779524;10797013;10811609;10823831;10827953;10838074;10854325;10878807;10882101;10884341;10911365;10918611;10944113;10966113;10973495;10973499;10975528;10982817;10984056;10995389;11024059;11027307;11035045;11046155;11053425;11057907;11062501;11069780;11081627;11090634;11094434;11125146;11146634;11231585;11237011;11239468;11248027;11259415;11262391;11285280;11292861;11292862;11298456;11325957;11350924;11358837;11358993;11371342;11454738;11460167;11486055;11493923;11504826;11504942;11509732;11520989;11562349;11562789;11566882;11584266;11585840;11598268;11606584;11733065;11739726;11772397;11804587;11812794;11842200;11847229;11884229;11923872;11931757;11960000;11960013;11961546;11970895;12000792;12050670;12061891;12068298;12070128;12070292;12101228;12118249;12123571;12136087;12138125;12186903;12194817;12198130;12234927;12297295;12351678;12359729;12379217;12379510;12399544;12403779;12426310;12446569;12473183;12473184;12496252;12504025;12504026;12526791;12538644;12538665;12546821;12554650;12600938;12604685;12609982;12615973;12646216;12646235;12660156;12660731;12676583;12676925;12682069;12700136;12724779;12738770;12750368;12759351;12759363;12787671;12788921;12791267;12791687;12808096;12816948;12819195;12820959;12821933;12853446;12860405;12912907;12915405;12917689;12917691;12923053;12963847;1317798;1352877;1356264;1359686;1377674;14514672;14517290;14517306;14528300;14528312;14564014;14585973;14603323;14611647;14625308;14661020;14661924;14672932;14676825;14681206;14684739;14688281;14690597;14695475;14707141;14734113;14757770;14764894;15014503;15029244;15053880;15075292;15084608;15105418;15115751;15122200;15125833;15138260;15140882;15145317;15163793;15175422;15198976;15199159;15224091;15224092;15226418;15247232;15257295;15282312;15292211;15300262;15327769;15327770;15340381;15361859;15367669;15371334;15469821;15469984;15472518;15474027;15537541;15538386;15541657;15571818;15572695;15574592;15577943;15592474;15601839;15611333;15652483;15652751;15664193;15678106;15678131;15683364;15688063;15694336;1570011;15703179;15735151;15735756;15737063;15749015;15781449;15799966;15831487;15845454;15863492;15899824;15916963;15917222;15917247;15937478;15983046;15987702;16056267;16061793;16115867;16136078;16140942;16155214;16171779;16186825;16209941;16214042;16251969;16252004;16282375;16286508;16301747;16303288;16335952;16341139;16356853;16356855;16356856;16359182;16360641;16371461;16371649;16401342;16413484;16421188;16421275;16446366;16459297;16459298;16478641;16547496;16547521;16551619;16556936;16595681;16611729;16611981;16612002;16647857;16651542;16687519;16705181;16707496;16728642;16732330;16738327;16740475;16753179;16790436;16816140;16818754;16824194;16831874;16849449;16884355;16901786;16901789;16906146;16931761;16943200;16954532;1695717;16959974;16962933;16964248;16971392;16973613;16978534;16980583;16990800;17047224;17072321;17081101;17115028;17126548;17132228;17135271;17139257;17141195;17158449;17161475;17182618;17183061;17183367;17187060;17189198;17204608;17218260;17220875;17234884;17254968;17283082;17290220;17318175;17323924;17332328;17363905;17395884;17428801;17434750;17442700;17443180;17468049;17485488;17496917;17497243;17507369;17507410;17510365;17512459;17523162;17540904;17548359;1756723;17636564;17641202;17675297;17728103;17728323;17785452;17786208;17855752;17873522;17890055;17894550;17900240;17947239;17948026;17948050;17977821;17979524;17980597;17981138;17997719;18031682;18070982;18093314;18162290;18167338;18172164;18180283;18184961;18206966;18235225;18238777;18248330;18249105;18264092;18273910;18280240;1828071;18281465;18282684;1833184;18337469;18434309;18438411;18455992;18462924;18467330;18480045;18485873;18497258;18497827;18502753;18534984;18541707;18555777;18573886;18593949;18632802;18632848;18635759;18636086;18644862;18662542;18692471;18701449;18711132;18716059;18719096;18720373;18772140;18775313;18776931;18805092;18826954;18827223;18832070;18851830;18926707;18997792;18997794;19002207;19015242;19028597;19056373;19061640;19066035;19081070;19122653;19125156;19135894;19166925;19188362;19188440;19208626;19217269;19250909;19264966;19305393;19317650;19321346;19345329;19346256;19352404;19359218;19363159;19368795;19371734;19379695;19398555;19424180;19447222;19452197;19473979;19473982;19489725;19490896;19513348;19533801;19549984;19570978;19573811;19592253;19593530;19603532;19608861;19617556;19622347;19666503;1968359;19684112;19706539;19729658;19734889;19748355;19759537;19808967;19815541;19815555;19818708;19838211;19851334;19852954;19862647;19874575;19874889;19878745;19896182;19903815;19909372;19910467;19934406;19940261;19955409;1998343;19996169;20014402;20016067;20018861;20028659;20038579;20068231;20096447;20100835;20104595;20154143;20193029;20227366;20228808;20236090;20300203;20348946;20360384;20368735;20378532;20436459;20449947;20452972;20460306;20471946;20487519;20495340;20501646;20501935;20512148;20536836;20538596;20543837;20577264;20583968;20585641;20621639;20643644;20685844;20734105;20805357;20818436;20844016;20849292;20858899;20887958;20889716;20956384;21081755;21083385;21091114;21177870;2121370;21220506;21239494;21245377;21252624;21257310;21317288;21329875;21329882;21335549;2135388;21357747;21362556;21372320;21391649;2139180;21447816;21463634;21478859;2147937;21525931;21532586;21571218;21571647;21596315;21652558;21659512;21695114;21734707;21778237;21799911;21801010;2183031;21849505;21863050;21878643;21921029;21931630;21940857;21962518;21966355;21983142;22007132;22012064;22029577;22036506;22047557;22069318;22078707;22085928;22101459;2210768;22117219;22128162;22142471;22153078;22178883;22216260;22223895;22265677;22267219;22279049;22286099;22306028;22306998;22318583;2236053;22391301;22422618;22427670;22440753;22466964;22505454;22508986;22537386;2261476;22718757;22751498;22751928;22761442;22789539;22798961;22800433;22802525;22872865;22885700;22897851;22959436;22964642;22982193;23063411;23069990;23112049;23140627;23144924;23159851;23186163;23201271;23217742;23236459;23256519;23274085;23332756;23333304;23333871;23395819;23401859;23403054;23419514;23443682;23452856;23453757;23486064;23535009;23535662;23535663;23563313;23579495;23583660;23603117;23613522;23661552;23685075;23719536;23725801;23746841;23824326;23825189;23851460;23867461;23878308;23912815;23943595;23955340;23986495;24011591;24019521;2405250;24056413;24072710;24074955;24076655;24190977;24260525;24270891;24298019;24302888;24309468;24366543;24367090;24397554;24493797;24582806;24585635;24636985;24685677;24714562;24715725;2475911;24784881;24793695;24793696;24814062;24845016;24854174;24896179;24925320;25040165;25043025;25083866;25132172;25133187;25152365;25197364;25231993;25242263;25253721;25260729;25305019;2530630;25314029;25339975;25349211;25355947;25394790;25418920;25469497;25489052;25531226;25547115;25576301;25578727;25578875;25584290;25645385;25654763;2570070;2570460;25733683;25740432;25793262;25810538;25921531;26030138;26091038;26117325;26154972;26183061;26208431;26222030;26280083;26280536;26344709;26443277;26460955;26583321;26632597;26778333;26811146;26906416;26942676;26992070;27030794;27137657;27222660;27249176;27342858;27428775;27466718;27565346;27572267;27600516;27846572;27862975;27920218;28063628;28115426;28132103;28178531;28228285;28263418;28317937;28380357;28442575;28467828;28598414;28832583;28834231;28904123;2898143;29055231;29153394;29233872;29242379;29314611;29356040;29393594;29450944;2946959;29493099;29508533;29526543;29557506;29632046;29632312;29632711;29717933;29786170;30118680;30244831;30315122;30334692;30334693;30429286;30573663;30610225;30728908;30833945;31011209;31154438;3129195;31530632;31546975;31679946;31844290;31848261;31998317;32005965;32157095;32161166;32265295;32284348;32293500;32357974;32387766;32488085;32502341;32640524;32672401;32870666;32897882;32938616;32981041;32983136;33009401;33141586;33298915;33406423;33444648;33537174;33592498;33691108;33717175;33791708;33859744;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34215617;34315872;34405274;34509645;3457471;3472246;34725712;34932366;35008409;35051231;35138101;35251023;35385574;35580925;36010968;36198437;36215666;36241641;36284347;36580660;37676773;37938771;38665916;40914422;7479848;7479976;7499357;7510216;7512451;7523390;7529176;7544915;7553863;7553864;7559638;7575604;7578059;7612269;7628694;7639698;7729537;7776974;7799959;7809113;7811704;7831327;7862124;7865904;7885476;7957109;7985023;8107774;8140422;8234276;8327496;8332913;8387275;8521496;8550590;8563751;8599092;8601309;8626374;8662591;8662795;8670417;8689684;8702708;8706131;8824192;8837778;8896571;8921937;8972730;9122164;9135156;9136925;9219684;9230313;9247583;9252186;9295362;9302992;9315679;9346238;9346484;9362451;9371760;9372967;9380723;9430229;9482734;9520446;9528852;9535855;9593755;9601642;9628874;9635433;9652413;9660940;9668046;9674432;9687533;9721103;9742107;9747882;9790970;9816258;9831708;9844631;9859996;9874371;9887101;9891082;9892021;9914500;9990852;9990853", "class_list": "", "function": "Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides., [UniProtKB, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K3Z3;A8K763;O35051;O43208;P47210;P52915;P52916", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0008134 transcription factor binding;GO:0017025 TBP-class protein binding;GO:0140296 general transcription initiation factor binding", "go_cellular_component": "GO:0031597 cytosolic proteasome complex;GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0031595 nuclear proteasome complex;GO:0005634 nucleus", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 105.3, "record_id": "P62195-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14493-1", "uniprot_id": [ { "id": "SLBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14493", "type": "external" } ], "mass": 31286.0, "length": 270, "protein_name": "Histone RNA hairpin-binding protein", "gene_name": "SLBP", "organism": "Human", "refseq_name": "histone RNA hairpin-binding protein isoform 3", "refseq_ac": [ { "id": "NP_001293004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293004", "type": "external" } ], "gene_names_uniprotkb": "SLBP; HBP", "gene_names_refseq": "HBP; SLBP", "protein_names_uniprotkb": "Histone RNA hairpin-binding protein; Histone stem-loop-binding protein", "protein_names_refseq": "hairpin binding protein, histone; histone RNA hairpin-binding protein isoform 3; histone RNA hairpin-binding protein; histone binding protein; histone stem-loop binding protein; stem-loop (histone) binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:7884); (R-HSA-159230); (R-HSA-73856); (R-HSA-77588)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "11237011;11782445;12003494;12588979;1338771;15829567;16086026;16492733;16912046;17081983;18025107;18172165;18490441;18669648;19155325;19413330;19664994;19664995;20068231;20129943;2017161;21406692;22439849;22645359;23186163;23286197;23301498;23804756;25418920;25576301;26992070;27846572;27920218;28063628;28118078;28218747;28228285;28306745;28411811;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30410026;30484775;30784271;30833945;31007083;31530632;31844290;31998317;32157095;32161166;32265295;32387766;32502341;32897882;32960265;33298915;33592498;33691108;33717175;33968037;34171305;34645975;35561310;35580925;36010968;36215666;36241641;39894887;8957003;9049306", "class_list": "", "function": "DRAIC promotes growth of breast cancer by sponging miR-432-5p to upregulate SLBP., [RefSeq, PubMed]; Influenza A virus co-opts ERI1 exonuclease bound to histone mRNA to promote viral transcription., [RefSeq, PubMed]; Knocking down miR-384 promotes growth and metastasis of osteosarcoma MG63 cells by targeting SLBP, [RefSeq, PubMed]; RNA-binding protein involved in the histone pre-mRNA processing (PubMed:12588979, PubMed:19155325, PubMed:8957003, PubMed:9049306). Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3'-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE) (PubMed:12588979, PubMed:19155325, PubMed:8957003, PubMed:9049306). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery (PubMed:12588979, PubMed:19155325, PubMed:8957003, PubMed:9049306). Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expression (PubMed:12588979, PubMed:19155325, PubMed:8957003, PubMed:9049306). Involved in the mechanism by which growing oocytes accumulate histone proteins that support early embryogenesis (By similarity). Binds to the 5' side of the stem-loop structure of histone pre-mRNAs (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; RNA-binding protein involved in the histone pre-mRNA processing. Binds the stem-loop structure of replication-dependent histone pre-mRNAs and contributes to efficient 3'-end processing by stabilizing the complex between histone pre-mRNA and U7 small nuclear ribonucleoprotein (snRNP), via the histone downstream element (HDE). Plays an important role in targeting mature histone mRNA from the nucleus to the cytoplasm and to the translation machinery. Stabilizes mature histone mRNA and could be involved in cell-cycle regulation of histone gene expression. Involved in the mechanism by which growing oocytes accumulate histone proteins that support early embryogenesis. Binds to the 5' side of the stem-loop structure of histone pre-mRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Removal of the phosphoryl group from T230 by either dephosphorylation or mutation results in a 7-fold reduction in the affinity of SLBP for the stem-loop RNA, [RefSeq, PubMed]; Showed that inhibiting the SLBP mRNA and protein levels were rescued by epigenetic modifiers suggesting that nickel's effects on SLBP may be mediated via epigenetic mechanisms Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [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": 11, "reported_mutagensis": 11, "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": "B3KRJ5", "ec_number_list": [], "go_molecular_function": "GO:0071207 histone pre-mRNA stem-loop binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0071208 histone pre-mRNA DCP binding", "go_cellular_component": "GO:0071204 histone pre-mRNA 3'end processing complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006398 mRNA 3'-end processing by stem-loop binding and cleavage;GO:0051028 mRNA transport;GO:0002191 cap-dependent translational initiation", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q14493-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VSL9-1", "uniprot_id": [ { "id": "STRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VSL9", "type": "external" } ], "mass": 95576.0, "length": 837, "protein_name": "Striatin-interacting protein 1", "gene_name": "STRIP1", "organism": "Human", "refseq_name": "striatin-interacting protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001257697", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257697", "type": "external" } ], "gene_names_uniprotkb": "STRIP1; FAM40A; KIAA1761", "gene_names_refseq": "FAM40A; FAR11A; STRIP1", "protein_names_uniprotkb": "Striatin-interacting protein 1; Protein FAM40A", "protein_names_refseq": "FAR11 factor arrest 11 homolog A; family with sequence similarity 40, member A; homolog of yeast FAR11 protein 1; protein FAM40A; striatin-interacting protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85369)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "16964243;17081983;17322306;18452278;18491316;18669648;18691976;18767875;18782753;19367720;19369195;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20112406;20166139;20230923;21406692;21834987;22223895;23186163;23481700;24275569;24715725;25418920;25576301;25743393;26154972;26566883;26992070;27846572;28063628;28228285;28832583;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30622739;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633399;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34509645;34561969;34932366;35051231;35580925;36010968;36284347;37938771", "class_list": "", "function": "Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape. Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0V925;Q5VSL8;Q658K2;Q6ZV31;Q8N598;Q96SN2;Q9C0A2", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0090443 FAR/SIN/STRIPAK complex", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0007010 cytoskeleton organization;GO:0035331 negative regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q5VSL9-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17542-1", "uniprot_id": [ { "id": "TAL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P17542", "type": "external" } ], "mass": 34271.0, "length": 331, "protein_name": "T-cell acute lymphocytic leukemia protein 1", "gene_name": "TAL1", "organism": "Human", "refseq_name": "T-cell acute lymphocytic leukemia protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001274276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274276", "type": "external" } ], "gene_names_uniprotkb": "TAL1; BHLHA17; SCL; TCL5", "gene_names_refseq": "SCL; TAL1; TCL5; bHLHa17; tal-1", "protein_names_uniprotkb": "T-cell acute lymphocytic leukemia protein 1; Class A basic helix-loop-helix protein 17; Stem cell protein; T-cell leukemia/lymphoma protein 5; TAL-1; bHLHa17", "protein_names_refseq": "T-cell acute lymphocytic leukemia 1; T-cell acute lymphocytic leukemia protein 1 isoform 1; T-cell acute lymphocytic leukemia protein 1; T-cell leukemia/lymphoma protein 5; class A basic helix-loop-helix protein 17; stem cell protein; tal-1 product", "tax_id": 9606, "disease": "lymphoid leukemia (Disease Ontology:DOID:1037); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:6886); (R-HSA-8939236); (R-HSA-9616222); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 80, "publication_id_list": "10233885;10330422;11242107;11340171;11369759;11564866;11684017;11747608;11847229;11867521;11904294;12242300;12702500;12869508;1396592;14517214;14519844;14762106;15084397;15678106;15930267;16751774;17063141;17562868;18280240;18701449;18776924;19651622;19690332;20661648;20887958;21471526;21571218;21911577;21993314;22012064;2230650;22310283;22371011;2247063;22474248;22897851;23001182;2303035;23186163;24379003;24584857;25043025;2524830;25394790;25784653;2602361;26092250;26154972;27108190;27137657;2721961;29431622;29557506;29632711;29902443;30599162;31154438;33177556;33592498;34075404;35051231;35215846;35561310;36010968;36632736;38102337;7862113;7970731;8423803;8437851;8695841;8846917;9111058;9177240", "class_list": "", "function": "Disruption of a GATA2-TAL1-ERG regulatory circuit promotes erythroid transition in healthy and leukemic stem cells., [RefSeq, PubMed]; Implicated in the genesis of hemopoietic malignancies. It may play an important role in hemopoietic differentiation. Serves as a positive regulator of erythroid differentiation (By similarity)., [UniProtKB, PubMed]; Suppression of super-enhancer-driven TAL1 expression by KLF4 in T-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; TAL1 activation in T-cell acute lymphoblastic leukemia: a novel oncogenic 3' neo-enhancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 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": "D3DQ24", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0019899 enzyme binding;GO:0046983 protein dimerization activity;GO:0042826 histone deacetylase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0030219 megakaryocyte differentiation;GO:0035162 embryonic hemopoiesis;GO:0030221 basophil differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P17542-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S55-1", "uniprot_id": [ { "id": "WRIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S55", "type": "external" } ], "mass": 72133.0, "length": 665, "protein_name": "ATPase WRNIP1", "gene_name": "WRNIP1", "organism": "Human", "refseq_name": "ATPase WRNIP1 isoform 1", "refseq_ac": [ { "id": "NP_064520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064520", "type": "external" } ], "gene_names_uniprotkb": "WRNIP1; WHIP", "gene_names_refseq": "CFAP93; FAP93; WHIP; WRNIP1; bA420G6.2", "protein_names_uniprotkb": "ATPase WRNIP1; 3.6.1.-; Werner helicase-interacting protein 1", "protein_names_refseq": "ATPase WRNIP1 isoform 1; ATPase WRNIP1; Werner helicase interacting protein 1; putative helicase RUVBL", "tax_id": 9606, "disease": "", "pathway": " (hsa:56897)", "pathway_count": 1, "publication_count": 95, "publication_id_list": "11301316;15302935;15592455;15670210;17081983;17550899;18220336;18669648;18767875;18842586;19413330;19415658;19608861;19651622;19664995;19690332;20068231;20166139;21406692;23186163;23301498;23481700;24275569;24715725;25418920;25576301;25645385;25892735;26154972;26992070;27062441;28218747;28228285;28510447;28832583;28834231;28904123;29053956;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29632711;29769354;30315122;30429286;30524438;30779550;31844290;31848261;31937595;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;35051231;35083852;35251023;35254053;36010968;36215666;36241641;36284347;37268023;37938771;38190717;38488661;38665916;38977862;40914422", "class_list": "", "function": "AXL/WRNIP1 Mediates Replication Stress Response and Promotes Therapy Resistance and Metachronous Metastasis in HER2+ Breast Cancer., [RefSeq, PubMed]; Discovering the nuclear localization signal of Werner Helicase Interacting Protein 1., [RefSeq, PubMed]; Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Also plays a role in the innate immune defense against viruses. Stabilizes the RIGI dsRNA interaction and promotes RIGI 'Lys-63'-linked polyubiquitination. In turn, RIGI transmits the signal through mitochondrial MAVS., [UniProtKB, PubMed, PubMed]; These results indicate that WRNIP1 functions as a modulator for initiation or restart events during pol delta-mediated DNA synthesis and that its ATPase activity is utilized to sense DNA ends and to regulate the extent of stimulation., [RefSeq, PubMed]; WRNIP1 prevents transcription-associated genomic instability. Publication Status: Online-Only, [RefSeq, PubMed]; Werner helicase interacting protein 1 contributes to G-quadruplex processing in human cells. Publication Status: Online-Only, [RefSeq, PubMed]; Werner helicase-interacting protein 1 binds polyubiquitin via its zinc finger domain, [RefSeq, PubMed]; Werner's syndrome is a rare autosomal recessive disorder characterized by accelerated aging that is caused by defects in the Werner syndrome ATP-dependent helicase gene (WRN). The protein encoded by this gene interacts with the exonuclease-containing N-terminal portion of the Werner protein. This protein has a ubiquitin-binding zinc-finger domain in the N-terminus, an ATPase domain, and two leucine zipper motifs in the C-terminus. It has sequence similarity to replication factor C family proteins and is conserved from E. coli to human. This protein likely accumulates at sites of DNA damage by interacting with polyubiquinated proteins and also binds to DNA polymerase delta and increases the initiation frequency of DNA polymerase delta-mediated DNA synthesis. This protein also interacts with nucleoporins at nuclear pore complexes. Two transcript variants encoding different isoforms have been isolated for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RDB0;Q53EP6;Q59ET8;Q5W0E2;Q5W0E4;Q8WV26;Q9H681;Q9NRJ6", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0045087 innate immune response;GO:0000731 DNA synthesis involved in DNA repair;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q96S55-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55011-1", "uniprot_id": [ { "id": "S12A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P55011", "type": "external" } ], "mass": 131447.0, "length": 1212, "protein_name": "Solute carrier family 12 member 2", "gene_name": "SLC12A2", "organism": "Human", "refseq_name": "solute carrier family 12 member 2 isoform 1", "refseq_ac": [ { "id": "NP_001037", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001037", "type": "external" } ], "gene_names_uniprotkb": "SLC12A2; NKCC1", "gene_names_refseq": "BSC-2; BSC2; BSC; CCC1; KILQS; NKCC1; PPP1R141; SLC12A2; hNKCC1", "protein_names_uniprotkb": "Solute carrier family 12 member 2; BSC2; Basolateral Na-K-Cl symporter; Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; Na-K-2Cl cotransporter 1; hNKCC1", "protein_names_refseq": "Na-K-2Cl cotransporter 1; basolateral Na-K-Cl symporter; bumetanide-sensitive cotransporter type 2; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; protein phosphatase 1, regulatory subunit 141; solute carrier family 12 (sodium/potassium/chloride transporter), member 2; solute carrier family 12 (sodium/potassium/chloride transporters), member 2; solute carrier family 12 member 2 isoform 1", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 78 (Disease Ontology:DOID:0112159); sensorineural hearing loss (Disease Ontology:DOID:10003); hypertension (Disease Ontology:DOID:10763); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); middle cerebral artery infarction (Disease Ontology:DOID:3525); Kilquist syndrome (MONDO:MONDO:0033664); Delpire-McNeill syndrome (MONDO:MONDO:0033667)", "pathway": " (hsa:6558); (R-HSA-426117)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10.1101/2023.09.13.557529;10347194;10600773;11237011;11700976;12106695;12145304;12145305;12368912;13785791;16275911;16382158;16669787;16832045;16950202;17525332;18220336;18669648;20091762;20442269;21423148;21613606;22223895;23186163;24190977;24702155;24715725;25502872;25880248;26154972;26853435;26992070;27397612;27782176;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29393594;29508533;29557506;29741879;29769354;29789417;30315122;30429286;30740830;31092671;31217245;31611695;31844290;32081947;32157095;32294086;32350084;32357974;32413057;32488085;32502341;32658972;32754646;32938616;32983136;33141586;33298915;33592498;33597714;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34211107;34357683;34433824;34725712;35051231;35154160;35251023;35318648;35585053;35624355;35968893;36010968;36215666;36239040;36284347;36306358;36323541;36581221;37938771;38396064;41018975;7629105;8528245;8640224;8663127;8812482", "class_list": "", "function": "Cation-chloride cotransporter which mediates the electroneutral transport of chloride, potassium and/or sodium ions across the membrane (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:33597714, PubMed:35585053, PubMed:36239040, PubMed:36306358, PubMed:7629105). Plays a vital role in the regulation of ionic balance and cell volume (PubMed:16669787, PubMed:32081947, PubMed:32294086, PubMed:7629105)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Comprehensive analyses of solute carrier family members identify SLC12A2 as a novel therapy target for colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Cryo-EM structure of the human NKCC1 transporter reveals mechanisms of ion coupling and specificity., [RefSeq, PubMed]; Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression., [RefSeq, PubMed]; NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a Case-Control Study., [RefSeq, PubMed]; The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; [Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type ]., [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": 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": 23, "reported_mutagensis": 86, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 8, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8N713;Q8WWH7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0051087 protein-folding chaperone binding;GO:0051879 Hsp90 protein binding;GO:0008519 ammonium channel activity;GO:0015079 potassium ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0043025 neuronal cell body;GO:0070062 extracellular exosome", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:0030644 intracellular chloride ion homeostasis;GO:0061044 negative regulation of vascular wound healing;GO:0070634 transepithelial ammonium transport;GO:0007214 gamma-aminobutyric acid signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P55011-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16576-1", "uniprot_id": [ { "id": "RBBP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16576", "type": "external" } ], "mass": 47820.0, "length": 425, "protein_name": "Histone-binding protein RBBP7", "gene_name": "RBBP7", "organism": "Human", "refseq_name": "histone-binding protein RBBP7 isoform 1", "refseq_ac": [ { "id": "NP_001185648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185648", "type": "external" } ], "gene_names_uniprotkb": "RBBP7; RBAP46", "gene_names_refseq": "RBBP7; RbAp46; SPGFX9", "protein_names_uniprotkb": "Histone-binding protein RBBP7; Histone acetyltransferase type B subunit 2; Nucleosome-remodeling factor subunit RBAP46; RBBP-7; Retinoblastoma-binding protein 7; Retinoblastoma-binding protein p46", "protein_names_refseq": "G1/S transition control protein-binding protein RbAp46; RBBP-7; histone acetyltransferase type B subunit 2; histone-binding protein RBBP7 isoform 1; histone-binding protein RBBP7; nucleosome-remodeling factor subunit RBAP46; retinoblastoma-binding protein 7; retinoblastoma-binding protein RbAp46; retinoblastoma-binding protein p46", "tax_id": 9606, "disease": "X-linked spermatogenic failure 9 (Disease Ontology:DOID:0061177); azoospermia (Disease Ontology:DOID:14227)", "pathway": " (hsa:5931); (R-HSA-212300); (R-HSA-2559580); (R-HSA-3214815); (R-HSA-3214841); (R-HSA-3214847); (R-HSA-3214858); (R-HSA-427389); (R-HSA-5617472); (R-HSA-606279); (R-HSA-6804758); (R-HSA-73762); (R-HSA-8943724); (R-HSA-8951664); (R-HSA-8953750); (R-HSA-9609690); (R-HSA-9679191); (R-HSA-9710421); (R-HSA-9764725); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9909649); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 26, "publication_count": 607, "publication_id_list": "10082553;10087012;10204490;10220405;10330177;10347217;10444591;10449787;10535940;10597293;10655587;10722742;10748112;10772813;10777502;10786633;10811609;10821277;10866654;10871633;10878807;10904264;10913176;10922406;10926844;10949293;10970879;10973499;10978333;11069780;11099047;11102443;11118440;11171983;11237011;11250901;11259415;11292861;11292862;11341840;11378386;11448779;11454738;11509652;11545734;11564866;11585840;11733065;11739383;11742974;11747826;11751582;11756452;11781575;11784859;11909966;11912130;11959841;11959846;11961546;12004135;12032298;12101228;12123582;12130538;12134156;12183469;12186903;12189133;12193592;12351676;12393749;12419226;12421820;12435631;12453418;12504025;12504026;12504854;12526791;12538644;12540855;12609982;12670868;12682069;12700765;12724404;12759363;12808055;12816948;12857923;12869583;12909625;12920132;13130464;14507994;14532106;14536086;14609955;14690597;14690610;14757770;14978097;14992727;15014447;15099518;15145825;15235609;15282312;15287722;15310751;15313887;15361859;15367669;15369671;15456747;1547496;15485929;15516265;15536069;15537541;15542832;15563468;15572695;15574592;15601839;15643425;15652483;15688063;15694336;15701600;15799966;15866172;15867264;15882967;15964846;16079151;16115318;16118227;16140760;16171779;16186106;16186825;16199523;16292313;16337592;16357870;16387653;16401342;16415179;16418168;16428440;16431907;16436515;16519522;16522641;16547496;16549775;16567619;16622420;16647857;16676006;16682010;16702404;16707490;16707496;16790436;16805913;16826196;16839880;16943200;16954381;17001316;17021013;17081101;17130829;17132228;17183367;17185360;17199038;17210787;17211407;17215844;17220875;17254968;17255097;17287340;17318177;17332328;17332741;17339379;17344414;17395714;17428788;17497243;17500065;17544230;1756725;17600109;17646674;17660710;17662961;17707229;17713478;17761849;17765224;17785452;17825402;17851529;17873065;17875933;17898714;17974977;18079182;18082607;18093314;18172008;18172012;18203656;18206966;18223688;18346456;18365017;18381289;18391013;18404153;18452278;18487508;18535146;18562691;18571423;18623064;18656484;18669648;18691976;18775313;18776931;18781158;18793328;18794358;18805092;18826954;18851830;18926707;18974356;19007248;19026781;19088198;19115252;19187765;19232136;19234465;19250909;19321346;19398759;19410544;19410545;19440552;19451217;19451218;19462008;19528227;19571010;19608861;19617556;19682613;19747919;19748355;1975088;19782034;19808676;19854132;19884659;20018852;20068231;20075857;20080577;20085832;20123894;20223979;20228809;20233713;2028256;20418909;20516213;20523938;20566683;20660729;20871592;20937877;20951943;20974918;21131967;21170310;21196496;21289308;21316606;21406692;21447816;21463634;21490301;21587264;21596310;21690215;21768289;21774791;21778237;21779408;21832073;21863050;21940857;21986495;22020331;22099308;22128185;22158034;22174689;22231400;22306028;22323599;22325352;22336108;22398447;22401777;22466170;22466964;22537386;22552008;22569366;22645359;22683641;22684280;22705304;22814904;22879880;22939622;22959436;23186163;23201271;23219899;23239876;23287862;23301498;23326524;23333871;23361464;23401859;23431171;23431328;23453757;23466526;23534758;23535662;23535663;23563313;23583660;23630040;23641311;23679895;23912815;23954429;23986495;24074865;24076655;24174538;24252660;24272870;24275569;24307175;24312487;24366543;24385926;24554700;24584101;24586203;24627085;24636985;24714562;24718924;24793695;24793696;24920672;25101834;25135475;25150861;25274305;25314029;25349211;25355947;25418920;25531226;25556658;25576301;25593309;25645385;2570724;25728608;25728771;25753662;25772364;25801024;25880248;25913784;26002965;26024233;26101246;26154972;26212009;26344709;26460955;26572645;26632597;26811146;26813693;26906416;26910647;26929215;26992070;27030794;27222660;27418187;27418309;27501258;27543614;27565346;27600516;27633282;27732854;27806305;27846572;27920218;2805069;28063628;28115426;28218747;28228285;28273063;28352266;28404884;28415052;28425720;28510447;28533432;28649982;28832583;28834231;28904123;28977666;29042441;29153394;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29729076;29786170;29945920;30045876;30122475;30134174;30201761;30228260;30315122;30327463;30360396;30385408;30410026;30484775;30524438;30610225;30761409;30779550;30898548;30923826;30980593;30993897;31048504;31086175;31154438;31217245;31222486;31289231;31427381;31530632;31746185;31844290;31848261;32005965;32157095;32161166;32183950;32188940;32284348;32357974;32387766;32488085;32860047;32897882;32938616;32983136;33214551;33264408;33283408;33298915;33392160;33444648;33537174;33592498;33608512;33633747;33691108;33912179;33936100;33968037;34019948;34171305;34185709;34229054;34357683;34561969;34932366;35008409;35008676;35051231;35083852;35138000;35292107;35318648;35561310;35580925;35809576;35851744;36008597;36010968;36241641;36284347;37225855;37843278;37938771;38359823;38368381;38577935;38665916;40914422;7488013;7491500;7501971;7503932;7513682;7535770;7588633;7623816;7801123;7816143;7831296;7859739;7906964;7908827;7969165;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8674428;8741839;8759021;8769649;8774846;8846784;8974401;9016654;9030721;9150135;9162092;9195981;9218805;9272954;9427644;9482740;9501179;9512513;9529249;9558366;9564042;9628874;9642256;9651585;9689056;9704927;9768359;9790534;9790970;9804427;9824166;9880483;9885572;9887101;9891082", "class_list": "", "function": "Core histone-binding subunit that may target chromatin remodeling factors, histone acetyltransferases and histone deacetylases to their histone substrates in a manner that is regulated by nucleosomal DNA. Component of several complexes which regulate chromatin metabolism. These include the type B histone acetyltransferase (HAT) complex, which is required for chromatin assembly following DNA replication; the core histone deacetylase (HDAC) complex, which promotes histone deacetylation and consequent transcriptional repression; the nucleosome remodeling and histone deacetylase complex (the NuRD complex), which promotes transcriptional repression by histone deacetylation and nucleosome remodeling; and the PRC2/EED-EZH2 complex, which promotes repression of homeotic genes during development; and the NURF (nucleosome remodeling factor) complex., [UniProtKB, PubMed, PubMed, PubMed]; FIT links c-Myc and P53 acetylation by recruiting RBBP7 during colorectal carcinogenesis., [RefSeq, PubMed]; Interpreting the molecular mechanisms of RBBP4/7 and their roles in human diseases (Review). Review article, [RefSeq, PubMed]; RBBP7, regulated by SP1, enhances the Warburg effect to facilitate the proliferation of hepatocellular carcinoma cells via PI3K/AKT signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]; X-linked RBBP7 mutation causes maturation arrest and testicular tumors. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JP00", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0035098 ESC/E(Z) complex;GO:0016589 NURF complex", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:1902455 negative regulation of stem cell population maintenance;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 61.0, "record_id": "Q16576-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15773-1", "uniprot_id": [ { "id": "MLF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15773", "type": "external" } ], "mass": 28147.0, "length": 248, "protein_name": "Myeloid leukemia factor 2", "gene_name": "MLF2", "organism": "Human", "refseq_name": "myeloid leukemia factor 2", "refseq_ac": [ { "id": "NP_005430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005430", "type": "external" } ], "gene_names_uniprotkb": "MLF2", "gene_names_refseq": "MLF2; NTN4", "protein_names_uniprotkb": "Myeloid leukemia factor 2; Myelodysplasia-myeloid leukemia factor 2", "protein_names_refseq": "myelodysplasia-myeloid leukemia factor 2; myeloid leukemia factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8079)", "pathway_count": 1, "publication_count": 100, "publication_id_list": "11237011;16565220;16959974;17081983;17287340;18095154;18212344;18669648;18691976;18767875;18991276;19413330;19415658;19651622;19664994;19664995;20058876;20068230;20068231;20112406;21406692;23186163;23481700;24275569;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26811146;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32387766;32502341;32703400;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36284347;36581221;37938771;38665916;8661158", "class_list": "", "function": "CRL4(DCAF8) and USP11 oppositely regulate the stability of myeloid leukemia factors (MLFs)., [RefSeq, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q15773-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NE01-1", "uniprot_id": [ { "id": "F186A_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NE01", "type": "external" } ], "mass": 262758.0, "length": 2351, "protein_name": "Protein FAM186A", "gene_name": "FAM186A", "organism": "Human", "refseq_name": "protein FAM186A", "refseq_ac": [ { "id": "NP_001138947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138947", "type": "external" } ], "gene_names_uniprotkb": "FAM186A", "gene_names_refseq": "FAM186A", "protein_names_uniprotkb": "Protein FAM186A", "protein_names_refseq": "protein FAM186A", "tax_id": 9606, "disease": "", "pathway": " (hsa:121006)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;28218747;28904123;29557506;30379171;31154438;31844290;32387766;32502341;34561969;35051231", "class_list": "", "function": "", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A6NE01-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07237-1", "uniprot_id": [ { "id": "PDIA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P07237", "type": "external" } ], "mass": 57116.0, "length": 508, "protein_name": "Protein disulfide-isomerase", "gene_name": "P4HB", "organism": "Human", "refseq_name": "protein disulfide-isomerase precursor", "refseq_ac": [ { "id": "NP_000909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000909", "type": "external" } ], "gene_names_uniprotkb": "P4HB; ERBA2L; PDIA1; PDI; PO4DB", "gene_names_refseq": "CLCRP1; DSI; ERBA2L; GIT; P4HB; P4Hbeta; PDIA1; PDI; PHDB; PO4DB; PO4HB; PROHB", "protein_names_uniprotkb": "Protein disulfide-isomerase; 5.3.4.1; Cellular thyroid hormone-binding protein; PDI; Prolyl 4-hydroxylase subunit beta; p55", "protein_names_refseq": "cellular thyroid hormone-binding protein; collagen prolyl 4-hydroxylase beta; glutathione-insulin transhydrogenase; procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide; prolyl 4-hydroxylase, beta polypeptide; protein disulfide isomerase family A, member 1; protein disulfide isomerase-associated 1; protein disulfide isomerase/oxidoreductase; protein disulfide-isomerase precursor; protein disulfide-isomerase; protocollagen hydroxylase; testicular secretory protein Li 32; thyroid hormone-binding protein p55", "tax_id": 9606, "disease": "Cole-Carpenter syndrome (Disease Ontology:DOID:0060438)", "pathway": " (hsa:5034); (R-HSA-1650814); (R-HSA-264876); (R-HSA-3299685); (R-HSA-381426); (R-HSA-5358346); (R-HSA-8866423); (R-HSA-8957275); (R-HSA-8963888); (R-HSA-8964041); (R-HSA-9020591); (R-HSA-9020933); (R-HSA-9918432)", "pathway_count": 13, "publication_count": 409, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10029572;10077652;10218588;10228156;10383197;10415122;10479448;10512690;10514471;10521251;10521424;10614670;10636893;10656833;10681634;10810289;10833429;10898936;10899108;10912521;10919671;10934207;10951195;10982;10984056;10990447;11018045;11054122;11114383;11139407;11158056;11181151;11237011;11250653;11264294;11316783;11353333;11369260;11462236;11486055;11493706;11507097;11518528;11522292;11606061;11707400;11739083;11751371;11788658;11886899;11904301;11912930;12023369;12095988;12218051;12218052;12241545;12379487;12446202;12466191;12473679;12475640;12485997;12518019;12643545;12646579;12665801;12692552;12700345;12810533;12829378;1286669;12893768;12904166;12947981;1323838;1347984;1370451;1383255;14500733;14592831;14617756;14704853;14732096;15004198;15044467;15044469;15046979;15064408;15075292;15087447;15126567;15158710;15163793;15280035;1528899;15292211;15308688;15317809;15331542;15469690;15485880;15525596;15596429;15642270;15644496;15720785;1577494;1578138;15878854;15927447;1597478;16138901;16158220;16158222;16282375;16335952;16401067;16407158;16478722;16591531;16611729;16615992;1668270;16714477;1674604;16750198;16880213;16984975;1699755;17047378;17081065;17126548;17215532;17237796;17249697;17275676;17312271;17339654;17507410;17519234;1763037;17707404;17985932;18264092;18358825;18389480;1848237;18487197;18502753;18534984;18703498;18711132;18840671;18936159;18991276;19002207;19008531;19075007;19081070;19161421;19219623;19346256;19542232;19603532;19693541;1999334;20054003;20070187;20308425;20367259;20470363;20585641;20690882;20699468;2071038;2079031;21091435;21145486;21215271;21257310;21308844;21357747;21385867;21393238;21670307;21713314;21776394;21878990;21967573;21967640;22121020;22299025;22363685;22493009;22517366;22869735;22910329;23112049;23152058;23164639;23454490;23455484;23475612;23584533;23719536;23867461;24714562;2476804;24784881;2479552;25047527;25091901;25259790;2543975;25502872;25505266;25516297;25576301;25683117;25813380;25880248;26091039;26109132;26208004;26224785;26374642;2669954;26853435;26887945;26972013;26992070;27383988;27452731;27846572;27862975;27920218;28218747;2822027;28228285;28228593;2833496;2846539;28467828;28514659;28649982;28832583;28834231;28871256;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;3034602;30397120;30410026;30444036;30484775;30779550;30833945;31184304;31217245;31350524;31611695;3173483;31844290;31848261;32119511;32149426;32157095;32162841;32350084;32357974;32387766;32488085;32502341;32723473;32870666;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33392160;3342239;33485965;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34211107;34357683;3457020;34725712;35051231;35083852;35154160;35215835;35251023;35318648;3532102;35561310;35580925;36010968;3611107;3619451;36215666;36241641;36284347;3693360;37880717;37938771;38100120;38396772;38665916;38793607;3896518;3905801;39251943;3938630;40914422;4345202;5389100;60;6286671;6307276;6619141;6809411;6961438;7021796;710450;7172448;7487923;7519608;7523391;7525263;7525634;7525824;7527330;7527811;7538844;7543116;7588299;7626024;7638186;7683646;7689487;7753822;7803401;7885476;7911493;7985023;807573;8379940;8428933;8452552;8580850;8626595;8663465;8672469;8689684;8781553;8817670;8824192;8894645;8916141;8943050;8964575;9054364;9150948;9166668;9207799;9295278;9369223;9399589;9497324;9498755;9545296;9548923;9560306;9582318;9593755;9631292;9639555;9709957;9726962;9733769;9786878;9880564;9890938;9922210;9923614", "class_list": "", "function": "ARID1A loss induces P4HB to activate fibroblasts to support lung cancer cell growth, invasion, and chemoresistance., [RefSeq, PubMed]; Circular RNA P4HB promotes glycolysis and tumor progression by binding with PKM2 in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Exploring the Influence of Zinc Ions on the Conformational Stability and Activity of Protein Disulfide Isomerase. Publication Status: Online-Only, [RefSeq, PubMed]; P4HB regulates the TGFbeta/SMAD3 signaling pathway through PRMT1 to participate in high glucose-induced epithelial-mesenchymal transition and fibrosis of renal tubular epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]., [RefSeq]; This multifunctional protein catalyzes the formation, breakage and rearrangement of disulfide bonds. At the cell surface, seems to act as a reductase that cleaves disulfide bonds of proteins attached to the cell. May therefore cause structural modifications of exofacial proteins. Inside the cell, seems to form/rearrange disulfide bonds of nascent proteins. At high concentrations and following phosphorylation by FAM20C, functions as a chaperone that inhibits aggregation of misfolded proteins (PubMed:32149426). At low concentrations, facilitates aggregation (anti-chaperone activity). May be involved with other chaperones in the structural modification of the TG precursor in hormone biogenesis. Also acts as a structural subunit of various enzymes such as prolyl 4-hydroxylase and microsomal triacylglycerol transfer protein MTTP. Receptor for LGALS9; the interaction retains P4HB at the cell surface of Th2 T helper cells, increasing disulfide reductase activity at the plasma membrane, altering the plasma membrane redox state and enhancing cell migration (PubMed:21670307)., [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": 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": 2, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RDQ2;P30037;P32079;Q15205;Q6LDE5", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "1.14.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.2", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.4.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.18", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003779 actin binding;GO:0005178 integrin binding;GO:0019899 enzyme binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0034663 endoplasmic reticulum chaperone complex;GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005829 cytosol", "go_biological_process": "GO:0045785 positive regulation of cell adhesion;GO:2000406 positive regulation of T cell migration;GO:0071456 cellular response to hypoxia;GO:0046598 positive regulation of viral entry into host cell;GO:0035722 interleukin-12-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 42.1, "record_id": "P07237-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42785-1", "uniprot_id": [ { "id": "PCP_HUMAN", "url": "https://www.uniprot.org/uniprot/P42785", "type": "external" } ], "mass": 55800.0, "length": 496, "protein_name": "Lysosomal Pro-X carboxypeptidase", "gene_name": "PRCP", "organism": "Human", "refseq_name": "lysosomal Pro-X carboxypeptidase isoform 3", "refseq_ac": [ { "id": "NP_001306143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306143", "type": "external" } ], "gene_names_uniprotkb": "PRCP; PCP", "gene_names_refseq": "HUMPCP; PCP; PRCP", "protein_names_uniprotkb": "Lysosomal Pro-X carboxypeptidase; 3.4.16.2; Angiotensinase C; Lysosomal carboxypeptidase C; PRCP; Proline carboxypeptidase; Prolylcarboxypeptidase", "protein_names_refseq": "angiotensinase C; lysosomal Pro-X carboxypeptidase isoform 3; lysosomal Pro-x carboxypeptidase; lysosomal carboxypeptidase C; proline carboxypeptidase", "tax_id": 9606, "disease": "brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:5547); (R-HSA-6798695); (R-HSA-9970672)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;1066663;11204562;11237011;11830581;11986212;12944405;14691562;19054851;19159218;20112406;20540760;21544310;22898188;23090970;23584533;23650620;24190977;24715725;25418920;25502872;25645385;25813380;26154972;27449720;27726376;27846572;27920218;28218747;28228285;28321;28467828;28514659;28831120;28832583;28834231;28855257;28904123;29242379;29314611;29393594;29437277;29508533;29557506;29632046;29632711;29741879;29769354;30192525;30315122;30429286;30459171;30573663;30779550;30833945;31154438;31530632;31611695;31837203;31844290;31848261;31937595;32157095;32161166;32265295;32350084;32387766;32448049;32488085;32502341;32938616;32983136;33043033;33123756;33141586;33298915;33319614;33392160;33592498;33717175;33912179;33936100;33968037;34019948;34171305;34357683;34433824;34509645;3484703;34932366;35051231;35154160;35251023;35289036;35580925;36010968;36215666;36241641;37074911;37938771;38665916;3886654;39531497;39534244;4054110;500690;6604055;7391081;8195709;8344943;8692836;8710908;874082;9427705", "class_list": "", "function": "Cleaves C-terminal amino acids linked to proline in peptides such as angiotensin II, III and des-Arg9-bradykinin. This cleavage occurs at acidic pH, but enzymatic activity is retained with some substrates at neutral pH., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Fast oxidation of alpha-melanocyte-stimulating hormone and derived peptides under laboratory conditions causes irreproducible results-Insights from studies of prolylcarboxypeptidase in human cell types., [RefSeq, PubMed]; For the first time, PRCP is identified as an apelin-cleaving enzyme., [RefSeq, PubMed]; Genetic association study of prolylcarboxypeptidase polymorphisms with susceptibility to essential hypertension in the Yi minority of China: A case-control study based on an isolated population., [RefSeq, PubMed]; Haplotype-based association study between PRCP gene polymorphisms and essential hypertension in Hani minority group from a remote region of China., [RefSeq, PubMed]; This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. 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]; Using multiple -omics approach, study validated key molecules, such as CAP1, SHC1 and PRCP, that might play a significant role in IgA nephropathy pathogenesis. 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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 81, "disease_count": 1, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A8MU24;B2R7B7;B3KRK5;B5BU34", "ec_number_list": [ { "id": "3.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.25", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.6.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.29", "type": "external" } ], "go_molecular_function": "GO:0008239 dipeptidyl-peptidase activity;GO:0004185 serine-type carboxypeptidase activity;GO:0004181 metallocarboxypeptidase activity;GO:0070008 serine-type exopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045178 basal part of cell;GO:0070062 extracellular exosome;GO:0101003 ficolin-1-rich granule membrane;GO:0035577 azurophil granule membrane", "go_biological_process": "GO:0043535 regulation of blood vessel endothelial cell migration;GO:0002003 angiotensin maturation;GO:0003085 negative regulation of systemic arterial blood pressure;GO:0060055 angiogenesis involved in wound healing;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "P42785-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHN1-1", "uniprot_id": [ { "id": "DPOG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHN1", "type": "external" } ], "mass": 54911.0, "length": 485, "protein_name": "DNA polymerase subunit gamma-2", "gene_name": "POLG2", "organism": "Human", "refseq_name": "DNA polymerase subunit gamma-2", "refseq_ac": [ { "id": "NP_009146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009146", "type": "external" } ], "gene_names_uniprotkb": "POLG2; MTPOLB", "gene_names_refseq": "HP55; MTDPS16A; MTDPS16B; MTDPS16; MTPOLB; PEOA4; POLG-BETA; POLG2; POLGB", "protein_names_uniprotkb": "DNA polymerase subunit gamma-2; DNA polymerase gamma accessory 55 kDa subunit; Mitochondrial DNA polymerase accessory subunit; MtPolB; PolG-beta; p55", "protein_names_refseq": "DNA polymerase gamma accessory 55 kDa subunit; DNA polymerase subunit gamma-2, mitochondrial; DNA polymerase subunit gamma-2; mitochondrial DNA polymerase subunit gamma-2; mitochondrial DNA polymerase, accessory subunit; polymerase (DNA directed), gamma 2, accessory subunit; polymerase (DNA) gamma 2, accessory subunit", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 16 (Disease Ontology:DOID:0070446); mitochondrial DNA depletion syndrome 16B (Disease Ontology:DOID:0070447); autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (Disease Ontology:DOID:0111525); nephrocalcinosis (Disease Ontology:DOID:12679)", "pathway": " (hsa:11232); (R-HSA-2151201); (R-HSA-9913635)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10412986;10497183;10608893;10643692;10666468;10677218;10713165;11237011;11340167;11477093;11477094;11504725;11809803;12374852;12379656;12563009;12745923;15167897;15684387;16079181;16079853;16685652;16788062;16890199;16908542;16911507;17031457;17437997;17715127;17923681;18187503;18195150;18215119;18343819;18680753;18685103;19001277;19356719;19417006;19837034;19951946;20445207;21953457;22383523;23186163;25635099;26056153;26253742;27220468;27226550;27592148;29290614;30102370;30157269;30247721;30256971;30605451;30949702;31778857;33847964;35051231;35819194;35947649;36010968;36528058;36744436;37013609;37085601;37202477;37592734;7629110;7799916;8108407;8333869;9153213;9178750;9286700", "class_list": "", "function": "Accessory subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Acts as an allosteric regulator of the holoenzyme activities. Enhances the polymerase activity and the processivity of POLG by increasing its interactions with the DNA template. Suppresses POLG exonucleolytic proofreading especially toward homopolymeric templates bearing mismatched termini. Binds to single-stranded DNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature. Review article, [RefSeq, PubMed]; PolB gamma can bind double-stranded DNA and may play a role in DNA replication or repair, [RefSeq, PubMed]; Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA., [RefSeq, PubMed]; This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "O00419;Q0IJ81;Q96GW2;Q9UK35;Q9UK94", "ec_number_list": [], "go_molecular_function": "GO:0030337 DNA polymerase processivity factor activity;GO:0003887 DNA-directed DNA polymerase activity;GO:0042802 identical protein binding;GO:0070182 DNA polymerase binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0042645 mitochondrial nucleoid;GO:0005760 gamma DNA polymerase complex", "go_biological_process": "GO:1900264 positive regulation of DNA-directed DNA polymerase activity;GO:0006264 mitochondrial DNA replication;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9UHN1-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3A3-1", "uniprot_id": [ { "id": "PHOCN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3A3", "type": "external" } ], "mass": 26032.0, "length": 225, "protein_name": "MOB-like protein phocein", "gene_name": "MOB4", "organism": "Human", "refseq_name": "MOB-like protein phocein isoform 3", "refseq_ac": [ { "id": "NP_001094289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094289", "type": "external" } ], "gene_names_uniprotkb": "MOB4; CGI-95; MOB3; MOBKL3; PHOCN; PREI3", "gene_names_refseq": "2C4D; CGI-95; MOB1; MOB3; MOB4; MOBKL3; PHOCN; PREI3", "protein_names_uniprotkb": "MOB-like protein phocein; 2C4D; Class II mMOB1; Mob1 homolog 3; Mob3; Mps one binder kinase activator-like 3; Preimplantation protein 3", "protein_names_refseq": "MOB-like protein phocein isoform 3; MOB1, Mps One Binder kinase activator-like 3; Mps One Binder kinase activator-like 3; class II mMOB1; mob-like protein phocein; mob1 homolog 3; phocein, Mob-like protein; preimplantation protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:25843)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11230166;11237011;11319234;18362890;18782753;22223895;25576301;27846572;27920218;28514659;28832583;29242379;29393594;29557506;29632046;30072378;30315122;31844290;31848261;32157095;32357974;32387766;32938616;33298915;33633399;33912179;33936100;33968037;33981976;34171305;35051231;35561310;36010968;37259670;38253038;40596516", "class_list": "", "function": "Because of divergent evolution of key interface residues, MST4 and MOB4 could disrupt assembly of the MST1-MOB1 complex through alternative pairing and thereby increased YAP activity. Collectively, these findings identify the MST4-MOB4 complex as a noncanonical regulator of the Hippo-YAP pathway with an oncogenic role in PC, [RefSeq, PubMed]; Mob4 is essential for spermatogenesis in Drosophila melanogaster., [RefSeq, PubMed]; Part of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation., [UniProtKB, PubMed, PubMed]; Phosphorylation of MOB1 at Thr74 by MST2 is essential to make a complex of MOB1, MST2 and NDR1, and to fully activate NDR1, [RefSeq, PubMed]; This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[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": 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": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DML0;Q53SE0;Q7Z4Y6;Q9H2P3;Q9H5J1;Q9Y4T8", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm;GO:0098794 postsynapse", "go_biological_process": "GO:0035330 regulation of hippo signaling;GO:0035331 negative regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9Y3A3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2B4-1", "uniprot_id": [ { "id": "CT2NL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2B4", "type": "external" } ], "mass": 70158.0, "length": 639, "protein_name": "CTTNBP2 N-terminal-like protein", "gene_name": "CTTNBP2NL", "organism": "Human", "refseq_name": "CTTNBP2 N-terminal-like protein", "refseq_ac": [ { "id": "NP_061174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061174", "type": "external" } ], "gene_names_uniprotkb": "CTTNBP2NL; KIAA1433", "gene_names_refseq": "CTTNBP2NL", "protein_names_uniprotkb": "CTTNBP2 N-terminal-like protein", "protein_names_refseq": "CTTNBP2 N-terminal-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55917)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;15302935;15345747;16964243;17081983;18452278;18669648;18767875;18782753;19413330;19651622;19664994;19664995;20058876;20068231;21406692;23186163;23301498;26811146;26992070;27846572;28904123;29437277;29557506;30429286;31844290;32157095;32265295;32488085;32502341;32938616;32983136;33123756;33592498;33968037;34725712;35051231;35254053;35580925;36010968;36241641;36284347;37938771;38253038;38665916;40307207", "class_list": "", "function": "Regulates lamellipodial actin dynamics in a CTTN-dependent manner (By similarity). Associates with core striatin-interacting phosphatase and kinase (STRIPAK) complex to form CTTNBP2NL-STRIPAK complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. 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)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KMS5;Q96B40", "ec_number_list": [], "go_molecular_function": "GO:0051721 protein phosphatase 2A binding", "go_cellular_component": "GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium;GO:0001725 stress fiber;GO:0090443 FAR/SIN/STRIPAK complex;GO:0005737 cytoplasm", "go_biological_process": "GO:1903119 protein localization to actin cytoskeleton;GO:0032410 negative regulation of transporter activity;GO:0034763 negative regulation of transmembrane transport;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9P2B4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00399-1", "uniprot_id": [ { "id": "DCTN6_HUMAN", "url": "https://www.uniprot.org/uniprot/O00399", "type": "external" } ], "mass": 20747.0, "length": 190, "protein_name": "Dynactin subunit 6", "gene_name": "DCTN6", "organism": "Human", "refseq_name": "dynactin subunit 6", "refseq_ac": [ { "id": "NP_006562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006562", "type": "external" } ], "gene_names_uniprotkb": "DCTN6; WS3", "gene_names_refseq": "DCTN6; WS-3; WS3; p27", "protein_names_uniprotkb": "Dynactin subunit 6; Dynactin subunit p27; Protein WS-3", "protein_names_refseq": "dynactin 6; dynactin subunit 6; dynactin subunit p27; novel RGD-containing protein; protein WS-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10671); (R-HSA-2132295); (R-HSA-3371497); (R-HSA-6807878); (R-HSA-6811436)", "pathway_count": 5, "publication_count": 292, "publication_id_list": "10036229;10052452;10064083;10072072;10318838;10359595;10445031;10480952;10540230;10559959;10559986;10562278;10593899;10631941;10631952;10639150;10679020;10747884;10748235;10761932;10809954;10903204;10921873;11035033;11080672;11172815;11237011;11285137;11306556;11461920;11483508;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11748249;11751894;11790530;11813165;11853874;12047556;12070132;12078484;12198549;12388752;12401177;12432908;12447383;12634853;12742663;12748383;12781197;12925777;13486053;14654841;14731593;14742712;1493716;15037235;15159550;15381148;15483056;15591061;15616190;15632110;15728195;15749704;15813748;15878873;15911768;15914536;16030262;16181339;16207721;16242130;1631136;16314391;16403413;16618111;16633337;16723730;1680566;16824007;16912714;16926190;16940185;17142755;17253781;17274799;17283181;17360540;17429068;17451557;17488286;17591767;17760859;17804755;17827179;17927562;17956946;18046453;18086915;18182008;18215318;18243712;18254226;18283113;18292509;18524849;18635947;18641641;18664496;18809720;1898986;19015319;19109418;19164740;19296914;19359544;1956401;19564404;1957170;19631211;19635840;19753100;19758564;20006655;20038533;20072699;20357002;20420828;20427317;20637885;21116285;21158691;21173190;21183720;2121367;21219331;21376746;21441454;21689688;21700222;21796517;21844168;2190094;22011577;22013193;22094269;22130221;22266222;22304919;22318716;22433123;22562055;22791416;23333653;23455152;23481700;23783758;23839779;2391366;24012426;24119662;24694367;24806965;24891604;25233431;25436559;25453831;25492864;25576301;26073023;26154972;26203193;26313416;26992070;27462449;27600516;27663436;27846572;27920218;28083797;28301631;28755533;28832583;28834231;28919297;29242379;29331515;29557506;30197098;30429286;31110491;31141847;31154438;31217245;31530632;31731497;31826031;31844290;31848261;31937595;31998317;32016915;32157095;32161166;32320027;32448030;32488085;32502341;32544881;32982970;32983136;33141586;33298915;33592498;33717175;33896271;33912179;33968037;33981976;34171305;34561969;34932366;35051231;35580925;37938771;6645495;6891012;7481823;7592972;7650016;7667286;7691276;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8560673;8620540;8636227;8642258;8687433;8849454;8909537;8939989;8947036;8991093;9030515;9050864;9075930;9114004;9150144;9168138;9177194;9202021;9244307;9288971;9311912;9312039;9323141;9380700;9382863;9405360;9464360;9464361;9490716;9497313;9539769;9545226;9606180;9667968;9671725;9671731;9733780;9751720;9990005", "class_list": "", "function": "Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Study on the Prognostic Values of Dynactin Genes in Low-Grade Glioma., [RefSeq, PubMed]; The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological 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": 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": "B2RAC1", "ec_number_list": [], "go_molecular_function": "GO:0070840 dynein complex binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005869 dynactin complex;GO:0000776 kinetochore", "go_biological_process": "GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "O00399-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHL4-1", "uniprot_id": [ { "id": "DPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHL4", "type": "external" } ], "mass": 54341.0, "length": 492, "protein_name": "Dipeptidyl peptidase 2", "gene_name": "DPP7", "organism": "Human", "refseq_name": "dipeptidyl peptidase 2 isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_037511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037511", "type": "external" } ], "gene_names_uniprotkb": "DPP7; DPP2; QPP", "gene_names_refseq": "DPP II; DPP2; DPP7; DPPII; DPP; II; QPP", "protein_names_uniprotkb": "Dipeptidyl peptidase 2; 3.4.14.2; DPP II; Dipeptidyl aminopeptidase II; Dipeptidyl peptidase 7; Dipeptidyl peptidase II; Quiescent cell proline dipeptidase", "protein_names_refseq": "carboxytripeptidase; dipeptidyl aminopeptidase II; dipeptidyl arylamidase II; dipeptidyl peptidase 2 isoform 2 preproprotein; dipeptidyl peptidase 2; dipeptidyl-peptidase II; quiescent cell proline dipeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:29952); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10567372;11067927;11237011;15487984;18823758;19159218;19556882;20534982;22424782;22898188;22952628;23090970;23650620;23719902;24190977;24715725;25502872;25576301;25645385;26154972;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28514659;28832583;28834231;28855257;28904123;29242379;29314611;29437277;29493099;29557506;29632046;29632711;29741879;30192525;30315122;30429286;30573663;30779550;31154438;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33537174;33968037;33981976;34089345;34185709;34211107;34357683;34509645;34561969;35051231;35154160;35580925;36010968;36215666;36241641;37074911;37340703;37938771;38665916;39534244;40596516;8692836", "class_list": "", "function": "DPP II plays a minor role in the progression of malignant melanocytic lesions, [RefSeq, PubMed]; DPP2 is essential for maintaining lymphocytes and fibroblasts in G(0), and its inhibition results in apoptosis mediated by induction of c-Myc and p53., [RefSeq, PubMed]; Human DPP7 structures reveal the molecular basis of specific inhibition and the architectural diversity of proline-specific peptidases, [RefSeq, PubMed]; Plays an important role in the degradation of some oligopeptides., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The constitutive expression of dipeptidyl peptidase II mRNA in chronic lymphocytic leukemia was demonstrated., [RefSeq, PubMed]; The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [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": 5, "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": 5, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K7U7;Q5VSF1;Q969X4", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0008239 dipeptidyl-peptidase activity;GO:0004177 aminopeptidase activity;GO:0008236 serine-type peptidase activity;GO:0070008 serine-type exopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0070062 extracellular exosome;GO:0035578 azurophil granule lumen;GO:0031982 vesicle;GO:0005764 lysosome", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9UHL4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQG0-1", "uniprot_id": [ { "id": "MBB1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQG0", "type": "external" } ], "mass": 148855.0, "length": 1328, "protein_name": "Myb-binding protein 1A", "gene_name": "MYBBP1A", "organism": "Human", "refseq_name": "myb-binding protein 1A isoform 1", "refseq_ac": [ { "id": "NP_001099008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099008", "type": "external" } ], "gene_names_uniprotkb": "MYBBP1A; P160", "gene_names_refseq": "MYBBP1A; P160; PAP2; Pol5", "protein_names_uniprotkb": "Myb-binding protein 1A", "protein_names_refseq": "MYB binding protein (P160) 1a; myb-binding protein 1A isoform 1; myb-binding protein 1A; p53-activated protein-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10514); (R-HSA-5250924)", "pathway_count": 2, "publication_count": 123, "publication_id_list": "10644447;11230166;11237011;12429849;15558034;16514417;16565220;16603771;16964243;17081983;17322306;17924679;18077418;18220336;18452278;18491316;18669648;18691976;18767875;19007248;19369195;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068231;20177074;21406692;21559432;22028470;23186163;23388179;23481700;23555303;23667505;24366607;24715725;24901984;24952918;25367160;25418920;25576301;25645385;25810538;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28510447;28832583;28834231;28855257;28904123;29065309;29242379;29351928;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30444036;30484775;30524438;31066170;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32522876;32897882;32938616;32983136;33141586;33214551;33298915;33465208;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34725712;34932366;35051231;35083852;35251023;35485735;35561310;35580925;36215666;36241641;37217939;37298588;37938771;38665916;40596516;40914422", "class_list": "", "function": "Characterization of the impact of the MYBBP1A gene and rs3809849 on asparaginase sensitivity and cellular functions., [RefSeq, PubMed]; Intratumoral Restoration of miR-137 Plus Cholesterol Favors Homeostasis of the miR-137/Coactivator p160/AR Axis and Negatively Modulates Tumor Progression in Advanced Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May activate or repress transcription via interactions with sequence specific DNA-binding proteins (By similarity). Repression may be mediated at least in part by histone deacetylase activity (HDAC activity) (By similarity). Acts as a corepressor and in concert with CRY1, represses the transcription of the core circadian clock component PER2 (By similarity). Preferentially binds to dimethylated histone H3 'Lys-9' (H3K9me2) on the PER2 promoter (By similarity). Has a role in rRNA biogenesis together with PWP1 (PubMed:29065309)., [UniProtKB, UniProtKB, PubMed]; Suggest that MYBBP1A is required for p53 activation during anoikis; therefore, it is involved in suppressing colony formation and the tumorigenesis of breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; This study shows the capability of MYBBP1A to regulate glucose metabolism through c-MYB and PGC1alpha in human tumors., [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": 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": 40, "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": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q86VM3;Q9BW49;Q9P0V5;Q9UF99", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003714 transcription corepressor activity;GO:0043565 sequence-specific DNA binding;GO:0070888 E-box binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q9BQG0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6K5-1", "uniprot_id": [ { "id": "OAS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6K5", "type": "external" } ], "mass": 121170.0, "length": 1087, "protein_name": "2'-5'-oligoadenylate synthase 3", "gene_name": "OAS3", "organism": "Human", "refseq_name": "2'-5'-oligoadenylate synthase 3 isoform 1", "refseq_ac": [ { "id": "NP_006178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006178", "type": "external" } ], "gene_names_uniprotkb": "OAS3; OKcl.4", "gene_names_refseq": "OAS3; p100OAS; p100", "protein_names_uniprotkb": "2'-5'-oligoadenylate synthase 3; (2-5')oligo(A) synthase 3; 2-5A synthase 3; 2.7.7.84; p100 OAS; p100OAS", "protein_names_refseq": "(2-5')oligo(A) synthase 3; (2-5')oligo(A) synthetase 3; 2'-5'-oligoadenylate synthase 3 isoform 1; 2'-5'-oligoadenylate synthase 3; 2'-5'-oligoadenylate synthetase 3, 100kDa; 2'-5'oligoadenylate synthetase p100; 2-5A synthase 3; 2-5A synthetase 3; p100 OAS", "tax_id": 9606, "disease": "", "pathway": " (hsa:4940); (R-HSA-877300); (R-HSA-8983711); (R-HSA-909733)", "pathway_count": 4, "publication_count": 223, "publication_id_list": "10067896;10395669;10464285;10542297;10982844;10986460;11092454;11112351;11237011;11265282;11280764;11337497;11377645;11404376;11585831;11972023;11980899;11986302;12029096;12040185;12438563;12446674;12766484;12842042;12915721;1396683;14586410;14722222;14769151;15047845;1508672;15143187;15231837;15312780;15322115;15388922;15449939;15530433;15778442;16009940;16171819;16237089;16467876;16987978;17125875;17251292;1730654;17351669;17408844;17969444;18035202;18362138;18575461;18591661;18991276;19056102;19904482;19923450;20049711;20068231;20112406;20130243;20304997;20363976;20643137;21142819;2211721;22544926;23061660;23084743;23121362;23186163;23319625;23481700;24417533;24500209;24578532;24714562;24931123;25275129;25352621;25371710;25418920;25505266;25540362;25576301;25645385;25775560;25892109;25892735;26055709;26154972;26375851;26760998;26768311;26811146;26858407;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29331515;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29930882;30315122;30379171;30429286;30485383;30524438;30779550;30833945;31154438;31844290;32032529;32113509;32157095;32350084;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32897882;32938616;32983136;33117408;33123756;33141586;33189161;33193462;33239784;33298915;33396578;3350819;33537174;33592498;33691108;33717175;33968037;33981976;34031250;34078123;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35305973;35318648;35580925;35934228;36010968;36215666;36241641;36284347;36538032;36581221;36672782;37217939;37938771;38760017;6162102;6190010;6548414;688397;7510216;7514165;7526154;7530745;7537377;7539425;7540766;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8702790;9096384;9111318;9121453;9143706;9242679;9334213;9407111;9660177;9847332;9861020;9880533;9880569", "class_list": "", "function": "IFN-beta1b induces OAS3 to inhibit EV71 via IFN-beta1b/JAK/STAT1 pathway., [RefSeq, PubMed]; Integrative Multiomics and Regulatory Network Analyses Uncovers the Role of OAS3, TRAFD1, miR-222-3p, and miR-125b-5p in Hepatitis E Virus Infection. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response. In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation. Catalyzes preferentially the dimerization of ATP to form 2'-5'-diadenylate (2-5A), but can also form the trimeric 2'-5'-oligoadenylate. The oligoadenylate then binds to the inactive monomeric form of ribonuclease L (RNase L) leading to its dimerization and subsequent activation. Activation of RNase L leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication. Can mediate the antiviral effect via the classical RNase L-dependent pathway or an alternative antiviral pathway independent of RNase L. Displays antiviral activity against Chikungunya virus (CHIKV), Dengue virus, Sindbis virus (SINV) and Semliki forest virus (SFV)., [UniProtKB, PubMed, PubMed, PubMed]; OAS1, OAS2, and OAS3 Contribute to Epidermal Keratinocyte Proliferation by Regulating Cell Cycle and Augmenting IFN-1Induced Jak1Signal Transducer and Activator of Transcription 1 Phosphorylation in Psoriasis., [RefSeq, PubMed]; TYK2, IFITM3, IFNAR2 and OAS3 single-nucleotide polymorphisms among severe COVID-19 ICU patients in Morocco., [RefSeq, PubMed]; This gene encodes an enzyme included in the 2', 5' oligoadenylate synthase family. This enzyme is induced by interferons and catalyzes the 2', 5' oligomers of adenosine in order to bind and activate RNase L. This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]., [RefSeq]; Zika virus employs the host antiviral RNase L protein to support replication factory assembly., [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": 5, "reported_glycation": 0, "reported_snv": 33, "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": "Q2HJ14;Q9H3P5", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.7.84", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.84", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.5.4.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.37", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "4.2.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.-.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "2.7.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.-", "type": "external" }, { "id": "3.1.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.5.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0003725 double-stranded RNA binding;GO:0001730 2'-5'-oligoadenylate synthetase activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0070106 interleukin-27-mediated signaling pathway;GO:2000342 negative regulation of chemokine (C-X-C motif) ligand 2 production;GO:0051607 defense response to virus;GO:0045071 negative regulation of viral genome replication", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q9Y6K5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51692-1", "uniprot_id": [ { "id": "STA5B_HUMAN", "url": "https://www.uniprot.org/uniprot/P51692", "type": "external" } ], "mass": 89866.0, "length": 787, "protein_name": "Signal transducer and activator of transcription 5B", "gene_name": "STAT5B", "organism": "Human", "refseq_name": "signal transducer and activator of transcription 5B", "refseq_ac": [ { "id": "NP_036580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036580", "type": "external" } ], "gene_names_uniprotkb": "STAT5B", "gene_names_refseq": "GHISID2; STAT5B; STAT5", "protein_names_uniprotkb": "Signal transducer and activator of transcription 5B", "protein_names_refseq": "signal transducer and activator of transcription 5B; transcription factor STAT5B", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); growth hormone insensitivity syndrome with immune dysregulation 1 (Disease Ontology:DOID:0080836); growth hormone insensitivity syndrome with immune dysregulation 2 (Disease Ontology:DOID:0080837); colon adenocarcinoma (Disease Ontology:DOID:234); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6777); (R-HSA-1170546); (R-HSA-1266695); (R-HSA-1433557); (R-HSA-1839117); (R-HSA-186763); (R-HSA-2586552); (R-HSA-512988); (R-HSA-8854691); (R-HSA-8983432); (R-HSA-8985947); (R-HSA-9020558); (R-HSA-9020958); (R-HSA-9027283); (R-HSA-9645135); (R-HSA-9670439); (R-HSA-9674555); (R-HSA-9702518); (R-HSA-9703465); (R-HSA-9705462); (R-HSA-982772); (R-HSA-9976102)", "pathway_count": 22, "publication_count": 492, "publication_id_list": "10358045;10358752;10377264;10397721;10469654;10477686;10477722;10480903;10508235;10514492;10523831;10523834;10537111;10562299;10579907;10643150;10679268;10688839;10688912;10698507;10825200;10875937;10884405;10887137;10918587;10919676;10935490;10944457;10949031;10982827;11007921;11016959;11027663;11046040;11090077;11163236;11196675;11237011;11306517;11328862;11369651;11390453;11390454;11395417;11418623;11418668;11448122;11481447;11494148;11520784;11564763;11564764;11689702;11706020;11707405;11728342;11739186;11748924;11751923;11773439;11809791;12039059;12062105;12087100;12093291;12124177;12133942;12184921;12192036;12237455;12244150;12351624;12393597;12411494;12429742;12433361;12456798;12468433;12469119;12475982;12481435;12511554;12517932;12621061;12623850;12660731;12734179;12759422;12796379;12824176;12878163;12889071;12897384;12907755;12954634;1314164;13679528;1371879;1374684;1375232;1375321;1376929;1381360;1396555;1396585;1400495;14504097;14512302;14580208;14593182;14660670;14695343;14764663;15003515;15007386;15034873;15039213;15050920;15051545;15082796;15107455;15120653;15121872;15143187;15166220;15178252;15178681;1526987;15282306;15316008;15353558;15448205;1549776;15498859;15526160;15601820;15609342;15677474;15749844;15767667;15790786;15800673;15827093;15919823;16129412;16188233;16212621;16397263;16477002;16483568;16492764;16497976;16546209;1662392;16627759;16684964;16707477;16720384;16737840;16750817;16761019;16772534;16840534;16873377;16908864;16946300;16964243;16982608;1701053;17016520;1702217;1721591;17255936;17268528;17322306;17344430;17356133;17363902;17452978;17533378;17546049;17565041;17662946;17698633;17764812;17878297;17879956;17997837;18192505;18205209;18250158;1833064;1833065;18382766;18412956;18488018;18516053;18550772;18591661;18599299;18644434;18669613;18669648;18691976;18692472;18697750;18767875;18830264;18941194;19265199;19345670;19369959;19438505;19438593;19453968;19457860;1948064;19535621;19630967;19651622;19690332;19802003;19864382;19874848;19927328;20053995;20068231;20111072;20169197;20226962;20304997;20462497;20639532;2065657;20671117;20702587;20927104;20966397;21072051;21098725;21105711;21135090;21205088;21262971;21330321;21439476;2147944;21705501;22089421;22411868;22419735;22424782;22438257;22442148;22464331;22509308;22649370;22802649;22962576;23073628;23103841;23168613;2317865;23186163;23481700;23596048;24220695;24366607;24417533;2466336;24687822;2472219;24737791;24854988;24972766;25004819;25239608;25297818;2555171;25572173;25645385;25892735;26154972;26301565;26308771;26375851;26515730;26716518;2681215;26974155;26992070;27133025;27256702;27423467;27536065;27600516;27666490;27774606;27795560;27920218;27984641;28028030;28192400;28218747;28228285;2825030;28400581;28403213;28458652;28510447;28612433;28649982;28751768;28832583;28904123;28923937;29025582;29139090;29228564;29242379;29314611;29393594;29437277;29507660;29508533;29557506;29632046;29632711;29704617;29769354;29786170;29844444;29880609;29964125;30370255;30429286;30524438;30552988;30559310;30644389;30792533;31066629;31085175;31154438;31359998;31844290;31918398;32157095;32350084;32357974;32502341;32897882;32938616;32983136;33141586;3349036;33691108;33936100;33968037;34211107;34357683;34561969;34932366;35051231;35154160;35251023;35580925;35705054;36010968;36215666;36241641;36755813;36862902;37564209;37938771;38618957;39218290;7489741;7499411;7506952;7509796;7512451;7512720;7513165;7514277;7521688;7523381;7526158;7536744;7543512;7568001;7600304;7608147;7641685;7651724;7680037;7685273;7691587;7691811;7692233;7718508;7719938;7744007;7775604;7805849;7935391;7973658;8007942;8022485;8084588;8128231;8188682;8197119;8266077;8294403;8343952;8388543;8443409;8483502;8530383;8611693;8631883;8636116;8643566;8647802;8647804;8647855;8657151;8695790;8700888;8702919;8709637;8732682;8756628;8774734;8830676;8861946;8940081;8947042;8950973;8977235;8990121;9020115;9030599;9038210;9045650;9057652;9058373;9061609;9092791;9111318;9126349;9162089;9188471;9226159;9233603;9256427;9355737;9398404;9405487;9422786;9425908;9428692;9438854;9446650;9484840;9488729;9512511;9535918;9546424;9553136;9576949;9587401;9600917;9657743;9685210;9715265;9716603;9722506;9739761;9766809;9788619;9799234;9804779;9837784;9864153;9872323;9885206;9918857;9923445;9949182;9989503", "class_list": "", "function": "Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Hyperactive STAT5 hijacks T cell receptor signaling and drives immature T cell acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of STAT5B as a biomarker associated with prognosis and immune infiltration in breast cancer., [RefSeq, PubMed]; METTL3-STAT5B interaction facilitates the co-transcriptional m[6]A modification of mRNA to promote breast tumorigenesis., [RefSeq, PubMed]; PAK1 overexpression promotes myxofibrosarcoma angiogenesis through STAT5B-mediated CSF2 transactivation: clinical and therapeutic relevance of amplification and nuclear entry. Publication Status: Online-Only, [RefSeq, PubMed]; STAT5b: A master regulator of key biological pathways. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Signal transducer and transcription activator that mediates cellular responses to cytokines, hormones and growth factors (PubMed:29844444, PubMed:9188471). Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation. Involved in the oncostatin-M-mediated signaling pathway through type II OSM receptor complex (heterodimers composed of OSMR and IL6ST) (PubMed:9188471)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [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": 26, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8WWS8", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046983 protein dimerization activity", "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:0006952 defense response;GO:0040014 regulation of multicellular organism growth;GO:0042127 regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 49.6, "record_id": "P51692-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60841-1", "uniprot_id": [ { "id": "IF2P_HUMAN", "url": "https://www.uniprot.org/uniprot/O60841", "type": "external" } ], "mass": 138827.0, "length": 1220, "protein_name": "Eukaryotic translation initiation factor 5B", "gene_name": "EIF5B", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 5B", "refseq_ac": [ { "id": "NP_056988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056988", "type": "external" } ], "gene_names_uniprotkb": "EIF5B; IF2; KIAA0741", "gene_names_refseq": "EIF5B; IF2", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 5B; 3.6.5.3; Translation initiation factor IF-2; eIF-5B", "protein_names_refseq": "eIF-5B; eukaryotic translation initiation factor 5B; translation initiation factor IF-2; translation initiation factor IF2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9669); (R-HSA-72706)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10200264;10432305;10659855;1095581;11018020;11124703;12569173;15302935;15345747;16408927;17081983;17322306;17487921;17924679;18088087;18212344;18318008;18452278;18491316;1856230;18572216;18669648;18691976;18707149;18767875;19367720;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20230923;21406692;22645359;23186163;23301498;24275569;24366607;24715725;25576301;25810538;26024233;26154972;26992070;27846572;27920218;28510447;28832583;28834231;28904123;29242379;29493099;29557506;30211544;31154438;31217245;31530632;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;32984844;33043033;33123756;33123915;33141586;33214551;33298915;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34357683;34433824;34509645;34525951;34725712;34923394;34932366;35051231;35138101;35154160;35251023;35561310;35580925;35732735;36010968;36241641;37217939;38665916;39302247;40914422;429297;592398;592399;641056", "class_list": "", "function": "Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008]., [RefSeq]; Depletion of eukaryotic initiation factor 5B (eIF5B) reprograms the cellular transcriptome and leads to activation of endoplasmic reticulum (ER) stress and c-Jun N-terminal kinase (JNK)., [RefSeq, PubMed]; Dynamic interaction network involving the conserved intrinsically disordered regions in human eIF5., [RefSeq, PubMed]; EIF5B and eIF1A reorient initiator tRNA to allow ribosomal subunit joining., [RefSeq, PubMed]; EIF5B drives integrated stress response-dependent translation of PD-L1 in lung cancer., [RefSeq, PubMed]; EIF5B regulates the expression of PD-L1 in prostate cancer cells by interacting with Wig1. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in translation initiation (PubMed:10659855, PubMed:35732735). Ribosome-dependent GTPase that promotes the joining of the 60S ribosomal subunit to the pre-initiation complex to form the 80S initiation complex with the initiator methionine-tRNA in the P-site base paired to the start codon (PubMed:10659855, PubMed:35732735). Together with eIF1A (EIF1AX), actively orients the initiator methionine-tRNA in a conformation that allows 60S ribosomal subunit joining to form the 80S initiation complex (PubMed:12569173, PubMed:35732735). Is released after formation of the 80S initiation complex (PubMed:35732735). Its GTPase activity is not essential for ribosomal subunits joining, but GTP hydrolysis is needed for eIF1A (EIF1AX) ejection quickly followed by EIF5B release to form elongation-competent ribosomes (PubMed:10659855, PubMed:35732735). In contrast to its procaryotic homolog, does not promote recruitment of Met-rRNA to the small ribosomal subunit (PubMed:10659855)., [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": 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": 37, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O95805;Q53RV7;Q53SI8;Q9UF81;Q9UMN7", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0006413 translational initiation;GO:0006446 regulation of translational initiation;GO:0042255 ribosome assembly", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "O60841-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42336-1", "uniprot_id": [ { "id": "PK3CA_HUMAN", "url": "https://www.uniprot.org/uniprot/P42336", "type": "external" } ], "mass": 124284.0, "length": 1068, "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform", "gene_name": "PIK3CA", "organism": "Human", "refseq_name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform", "refseq_ac": [ { "id": "NP_006209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006209", "type": "external" } ], "gene_names_uniprotkb": "PIK3CA", "gene_names_refseq": "CCM4; CLAPO; CLOVE; CWS5; HMH; MCAP; MCMTC; MCM; PI3K-alpha; PI3K; PIK3CA; p110-alpha", "protein_names_uniprotkb": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform; 2.7.1.137; 2.7.1.153; 2.7.11.1; PI3-kinase subunit alpha; PI3K-alpha; PI3Kalpha; Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha; Phosphoinositide 3-kinase alpha; Phosphoinositide-3-kinase catalytic alpha polypeptide; PtdIns-3-kinase subunit alpha; PtdIns-3-kinase subunit p110-alpha; Serine/threonine protein kinase PIK3CA; p110alpha", "protein_names_refseq": "PI3-kinase p110 subunit alpha; mutant phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha; phosphatidylinositol 3-kinase, catalytic, 110-KD, alpha; phosphatidylinositol 3-kinase, catalytic, alpha polypeptide; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform; phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit alpha; phosphoinositide 3-kinase alpha; phosphoinositide-3-kinase, catalytic, alpha polypeptide; ptdIns-3-kinase subunit p110-alpha; serine/threonine protein kinase PIK3CA", "tax_id": 9606, "disease": "estrogen-receptor positive breast cancer (Disease Ontology:DOID:0060075); cerebral cavernous malformation (Disease Ontology:DOID:0060669); colorectal carcinoma (Disease Ontology:DOID:0080199); CLOVES syndrome (Disease Ontology:DOID:0080351); Cowden syndrome 5 (Disease Ontology:DOID:0081001); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); epidermal nevus (Disease Ontology:DOID:0111162); stomach cancer (Disease Ontology:DOID:10534); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); rectal benign neoplasm (Disease Ontology:DOID:1984); colon adenocarcinoma (Disease Ontology:DOID:234); ovarian cancer (Disease Ontology:DOID:2394); cutaneous Paget's disease (Disease Ontology:DOID:3450); breast angiosarcoma (Disease Ontology:DOID:4511); esophageal cancer (Disease Ontology:DOID:5041); seborrheic keratosis (Disease Ontology:DOID:6498); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); megalodactyly (MONDO:MONDO:0007962); megalencephaly-capillary malformation-polymicrogyria syndrome (MONDO:MONDO:0011240); hemifacial myohyperplasia (MONDO:MONDO:0011723); CLAPO syndrome (MONDO:MONDO:0013125); cerebral cavernous malformation 4 (MONDO:MONDO:0859192)", "pathway": " (hsa:5290); (R-HSA-109704); (R-HSA-112399); (R-HSA-114604); (R-HSA-1236382); (R-HSA-1250342); (R-HSA-1257604); (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-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-6811558); (R-HSA-8851907); (R-HSA-8853659); (R-HSA-9009391); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9027276); (R-HSA-9028335); (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-9703465); (R-HSA-9703648); (R-HSA-9725370); (R-HSA-9842640); (R-HSA-9842663); (R-HSA-9856530); (R-HSA-9927354)", "pathway_count": 61, "publication_count": 1443, "publication_id_list": "10021361;10026222;10037737;10051567;10068651;10072481;10075701;10080542;10102273;10191087;10191262;10194437;10194451;10207047;10207622;10216106;10224048;10224278;10224668;10232922;10319328;10323868;10358045;10376603;10377264;10393930;10395673;10397721;10427092;10445845;10448070;10455108;10464238;10469124;10469654;10477686;10477722;10480903;10482988;10490598;10490823;10508167;10508235;10508610;10521483;10523665;10523675;10523831;10523834;10526156;10541305;10555148;10556217;10559246;10559940;10567430;10570274;10579713;10579907;10587647;10593988;10611248;10639123;10648629;10649434;10652257;10677529;10679268;10688839;10692392;10698507;10698680;10699171;10699464;10702393;10706082;10706887;10716940;10722704;10727532;10734310;10744696;10744763;10749680;10749889;10753883;10764742;10783894;10805725;10806474;10811803;10822173;10847683;10861009;10869344;10871282;10873802;10884405;10887137;10913131;10918587;10934142;10935490;10949031;10958683;10982827;10995764;11000521;11001876;11002419;11007481;11015615;11027663;11029009;11029403;11043579;11044445;11048639;11058585;11063744;11084340;11085924;11087732;11090077;11094066;11094073;11110708;11121404;11136978;11145705;11147812;11149925;11157491;11185956;11191051;11237011;11237712;11262396;11278486;11278720;11279162;11280786;11290608;11302699;11310834;11313946;11323411;11328862;11340081;11340297;11349134;11353842;11358993;11360177;11368773;11369651;11369763;11373293;11390647;11390650;11395417;11396949;11425868;11429702;11431473;11432776;11447223;11470823;11481033;11491658;11494148;11504915;11520784;11546808;11562357;11566266;11584276;11598010;11604140;11606067;11607834;11607835;11672528;11676921;11689432;11689445;11689702;11695992;11696015;11702783;11704860;11707405;11707441;11733541;11733557;11739186;11742120;11749377;11751994;11753430;11756552;11773441;11773442;11773443;11803464;11804587;11804589;11804590;11809791;11825873;11850821;11853546;11877430;11884229;11884391;11886862;11907067;11912491;11919634;11923287;11943732;11961559;11968001;11969368;11981029;11988758;12032311;12048194;12062105;12071859;12093360;12094235;12096337;12101241;12112524;12118066;12120503;12121613;12122009;12124177;12134158;12138205;12167717;12176338;12185581;12192036;12195014;12214271;12215529;12221096;12242309;12324459;12351724;12388769;12391143;12393597;12421825;12422219;12424201;12431978;12432077;12464388;12468433;12471035;12471105;12473184;12475982;12481435;12506011;12511554;12511868;12522257;12531887;12536145;12538664;12546821;12547822;12569364;12588983;12646134;12650940;12660326;12660731;12665586;12668668;12670391;12682286;12724311;12750159;12766170;12767043;12771945;12800156;12808053;12808147;12810700;12813055;12820653;12824176;12832405;12846735;12847086;12857875;12865409;12869549;12877655;12878163;12881510;12881521;12882960;12911816;12920229;12923183;12934099;12944901;12949711;12969963;1314164;1325671;1334462;1371879;1374684;1375232;1375321;1378832;1381348;1381360;1396555;1396585;1400495;14506247;14512443;14514672;14514689;14516276;14534538;14560030;14563642;14570703;14617813;14633607;1464587;1465135;14660569;14660670;14665621;14665640;14675773;14695343;14695357;14701753;14707138;14715624;14718169;14718541;14724572;14749497;14764897;14766744;14871245;14962911;14967142;14981546;14984498;15003515;15007255;15007386;15010370;15016963;15023524;15026417;15029211;15033483;15033976;15034873;15039213;15044318;15044950;15050920;15059917;15064355;15077177;15080793;15090535;15107133;15107860;15118073;15118125;15122200;15125833;15133129;15135396;15143187;15145317;15147912;15149544;15161916;15169778;15169870;15178581;15184383;15208656;15221957;15226403;15231819;15231873;15247219;15256420;15284455;15286081;15289301;15294978;15302923;15304325;15308621;15308668;15314172;15317731;15329413;15331416;15339924;15342493;15356145;15365099;15371334;15374880;15448205;1545823;15464023;15467163;15485661;15496458;15498859;15507211;15520168;15526160;15536084;15541657;15542837;15545998;15546878;15569713;15569929;15574420;15579468;15579503;15588951;15592455;15598814;15601624;15608678;15609342;15611138;15634346;15644415;15657067;15688067;15695828;15705661;15708849;15712344;15716355;15718470;15728722;15784156;15790786;15797027;15800673;15809313;15814684;15834429;15840652;15843475;15850391;15858067;15863030;15870016;15893672;15895073;15897194;15924253;15928335;15930273;15938644;15951850;15956360;15962004;15994075;15994232;16002401;16024644;16056267;16081809;16091734;16112081;16114017;16116428;16129412;16153455;16154996;16161041;16170336;16174766;16182515;16184169;16187797;16188233;16239258;16243035;16243036;16266983;16268778;16274718;16317043;16322209;16336962;16339315;16339447;16353168;16356853;16356855;16397263;16399794;16410449;16432179;16456001;16456541;16467200;16473593;16476736;16483568;16492808;16497229;16507994;16519628;16522682;16525419;16533766;16543952;1660188;16612002;16627759;16630808;16636067;16636149;16645038;16647110;16678913;16684964;16702231;16707477;16737840;16754659;16760434;16761019;16762923;16777452;16777603;16777849;16780920;16825495;16835357;16843263;16844695;16847462;16849543;16862148;16871283;16873377;16878150;1689311;16895971;16896804;16908864;16914516;16914545;16923326;16938345;16939498;16946300;16953218;16966330;16968698;16969069;16978534;16979564;16990784;17008356;1702217;17030947;17037979;17038317;17047224;17060455;17072321;17077126;17086210;17135271;17145773;17158234;1716764;17177598;17185414;17196961;17199126;17200115;17202354;17214551;1721591;17237347;17244649;17245604;17254966;17255936;17268528;17269730;17274988;17293873;17311002;17344430;17349580;17353907;17363905;17372273;17416736;17424910;17452978;17468049;17483340;17496917;17505008;17525128;17533378;17535799;17546049;17548359;17583407;17590538;17599059;17616532;17625570;17626883;17646646;17651088;17652160;17662946;17673550;17681947;17686471;17698633;17698854;17699773;17702745;17712310;17728323;17764812;17765681;17804252;17893108;17916740;17921256;17923684;17976533;17991742;17993265;17998941;18006505;18033240;18039657;18045877;18056264;18068628;18070884;18079394;18093523;18097461;18191593;18192505;18205209;18206197;18218625;18249095;18317450;1833064;1833065;18337450;18347018;18373495;18374639;18381441;18391968;18396277;18412956;18413839;18418043;18426980;18434541;18439422;18452557;18467591;18483393;18515384;18552176;18577758;18589439;18593892;18594010;18594509;18606717;18653540;18657504;18662984;18691974;18692472;18697750;18701132;18710921;18721752;18724359;1874735;18753295;18754654;18755892;18757403;18757432;18775330;18787071;18794883;18829560;18838382;18849880;18923523;18923524;18923525;18925875;18936096;18955485;1898771;18990089;19020623;19038970;1905813;19064725;19103595;19138696;19147536;19185485;19200708;19230644;19265199;19267251;19269969;19279408;19345670;19369959;19381019;19409513;19411071;19438505;19443634;19456272;19459784;19477218;19494238;19560417;19576174;19592646;19605563;19644473;19665053;19673492;19700402;19713215;19723632;19749790;19802003;19805105;19809159;19815557;19850008;19874848;19879889;19881549;19896968;19920141;19934221;19946327;19962665;20033049;20094046;20179196;20226962;20231295;20233749;20304997;20338997;20400958;20439495;20454865;20460433;20478380;20484116;20489731;20522708;20534812;20548102;20632993;20650261;2065657;20658524;20679435;20709759;20713702;20719933;20810653;20861220;20889717;20927104;20966921;21049007;21072051;21102635;21134980;21148482;21151158;21154129;21160078;21164297;21188471;21204784;21213368;21262971;21317208;21330321;21345110;21368164;21372320;21378159;21389326;21415216;21445309;21478295;21482677;21494621;21542010;21565175;21596819;21613211;21653832;21656749;21659545;21666749;21668414;21680538;21705501;21708979;21711248;21730051;2174051;21779497;21779505;21827948;21838707;21847362;21851428;21865595;2196173;21976531;21984976;21989057;21993244;22004470;22028449;22031296;22037487;22046346;22089421;22096251;22120714;22153499;22162641;22188813;22249260;22266855;22267732;22286764;22298643;22327215;22327622;22347464;22347506;22407364;22438257;22439933;22446104;22475431;22483114;22569528;22570254;22588880;22589270;22608513;22647598;22658521;22658544;22689825;22729224;22734669;22750304;22802530;22837387;22908275;22970203;23073628;23100325;23103841;23104988;23139213;23168613;23175443;23184205;23201355;23209303;23216836;23219661;23220880;23239810;23246288;23246379;23255595;23288169;23298836;23303910;23434736;23443682;23519112;23541593;23558953;23572525;23575685;23592373;23661334;23669310;23674897;23676467;23707487;23718289;2374928;23752188;23757206;23758345;23826249;23843458;23870057;23889739;23936502;23940355;23948973;23957430;23970477;23971979;23997528;24039841;24060861;24086303;24259668;24299208;24335996;24352656;24356251;24445538;24475247;24496003;24511546;24518094;24530924;24588013;24613930;24623723;2466336;24670165;24687822;24715725;2472219;24736079;24736082;24854988;24859002;24890514;24897931;24933155;24937142;24947326;24960694;25024229;25211221;25219551;25239608;25331893;25342631;25393796;25398149;25418920;25421750;25422220;25428919;25467007;25495341;25505266;2555171;25572173;25576301;25587652;25645385;25701704;25704760;25721503;25781681;25795300;25813404;25853726;25862245;25880248;25880691;25921060;25994018;26001147;26001593;26016997;26029847;26062823;26085527;26129894;26154972;26235028;26301689;26308771;26375550;26418745;26464158;26529257;26545934;26593112;26630010;26708155;26716518;26768311;26811146;2681215;26887924;26891877;26895103;26992070;27095573;27108388;27117132;27145964;27170215;27216196;27245569;27256702;27288742;27317099;27481945;27536065;27555588;27566546;27566826;27573755;27600516;27629725;27666490;27713499;27780853;27795560;27797339;27797363;27806292;27846572;27862975;27874193;27920218;28028030;28068934;28114311;28192400;28196833;28218747;28228285;28271164;28274957;2833705;28351781;28377484;28403213;28404650;2841328;28522571;28539435;28576946;28659337;28676499;28736554;28741662;28751768;28778966;28832583;28834231;28851395;28923937;29025582;29089502;29242379;29309929;29312580;29331515;29358323;29380702;29382922;29393594;29408302;29437277;29446767;29455642;29493099;29504069;29507660;29508533;29557506;29632046;29632711;29675095;29704617;29738483;29765525;29786170;29873274;29880609;29964125;29967253;30061385;30131584;30301790;30314968;30315122;30332834;30370255;30389923;30429286;30484775;30559310;30651634;30692217;30779550;30784271;30792533;30853411;30854046;3086311;31066629;31085175;31135801;31205027;31222486;31359998;31366041;31389670;31530632;31585938;31844290;31848261;31871319;32157095;32203420;32296767;32357974;32387766;32502341;32606397;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34496175;34499618;34509645;34561969;34646012;34819663;34819673;34932366;35051231;35318648;35484264;35580925;36010968;36284347;37712948;39191495;39336800;39455600;6148751;7478529;7479768;7479848;7506952;7509446;7509796;7512369;7513165;7517665;7523381;7526158;7526779;7535773;7536744;7537740;7543144;7559638;7597091;7608176;7624799;7637810;7651724;7665556;7673236;7680037;7681396;7685273;7691811;7692233;7713498;7721814;7737969;7744773;7750475;7753201;7809086;7824924;7835339;7876172;7935391;7935463;7937899;7954816;7972015;8007942;8021274;8036006;8052307;8084588;8107774;8145851;8228618;8246984;8294403;8355686;8388543;8394845;8443409;8479541;8483502;8493579;8530489;8537347;8543060;8550590;8601309;8611693;8617235;8617742;8617750;8621607;8626543;8628282;8631863;8633037;8636116;8637703;8643598;8645157;8647802;8647804;8647855;8649859;8657103;8657148;8657151;8662891;8662982;8663278;8663426;8664309;8665852;8673706;8674117;8681945;8695790;8700127;8702662;8710374;8723348;8756646;8769096;8769125;8774734;8782602;8798539;8805223;8810315;8816443;8876252;8906793;8939933;8939998;8940081;8943348;8947042;8950973;8980223;8981370;8986718;8990121;8994827;8995358;9013646;9028946;9030599;9038210;9043658;9045650;9045692;9047384;9094719;9099679;9099726;9108392;9108479;9111318;9113980;9113989;9162089;9173876;9182576;9182757;9192684;9200440;9211928;9223670;9225065;9252186;9256427;9259313;9286278;9295334;9299438;9299490;9305846;9305890;9334184;9355737;9356464;9362451;9367159;9393975;9395517;9396765;9398617;9407096;9422786;9425908;9428629;9438848;9438849;9438854;9446650;9472046;9484840;9488729;9490415;9490638;9491986;9497316;9514948;9516481;9524259;9525940;9546424;9565625;9576949;9582072;9590251;9593664;9604935;9616126;9620797;9632781;9632797;9659915;9660759;9660833;9670022;9685210;9687533;9690470;9705280;9716603;9736715;9737679;9739761;9764818;9764820;9766809;9768361;9770463;9788619;9792683;9799234;9811831;9819383;9822598;9830044;9830063;9843499;9857065;9872323;9883723;9885561;9890893;9895304;9918857;9927426;9949182;9973503;9988689;9990853", "class_list": "", "function": "Constitutional Mutation of PIK3CA: A Variant of Cowden Syndrome? Publication Status: Online-Only, [RefSeq, PubMed]; Defining the transcriptome of PIK3CA-altered cells in a human capillary malformation using single cell long-read sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; PIK3CA Mutated Colorectal Cancers Without KRAS, NRAS and BRAF Mutations Possess Common and Potentially Targetable Mutations in Epigenetic Modifiers and DNA Damage Response Genes., [RefSeq, PubMed]; Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]., [RefSeq]; Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Participates in cellular signaling in response to various growth factors. Involved in the activation of AKT1 upon stimulation by receptor tyrosine kinases ligands such as EGF, insulin, IGF1, VEGFA and PDGF. Involved in signaling via insulin-receptor substrate (IRS) proteins. Essential in endothelial cell migration during vascular development through VEGFA signaling, possibly by regulating RhoA activity. Required for lymphatic vasculature development, possibly by binding to RAS and by activation by EGF and FGF2, but not by PDGF. Regulates invadopodia formation through the PDPK1-AKT1 pathway. Participates in cardiomyogenesis in embryonic stem cells through a AKT1 pathway. Participates in vasculogenesis in embryonic stem cells through PDK1 and protein kinase C pathway. In addition to its lipid kinase activity, it displays a serine-protein kinase activity that results in the autophosphorylation of the p85alpha regulatory subunit as well as phosphorylation of other proteins such as 4EBP1, H-Ras, the IL-3 beta c receptor and possibly others (PubMed:23936502, PubMed:28676499). Plays a role in the positive regulation of phagocytosis and pinocytosis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This paper reports the first purification of a phosphoinositide 3-kinase and shows that the protein is a heterodimer of an 85 kd regulatory subunit that mediates binding to phosphorylated proteins and a 110 kd catalytic subunit., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 131, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 24, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14CW1;Q99762", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "2.7.1.151", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.151", "type": "external" }, { "id": "2.7.1.140", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.140", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0030295 protein kinase activator activity;GO:0043560 insulin receptor substrate binding;GO:0016303 1-phosphatidylinositol-3-kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0030835 negative regulation of actin filament depolymerization;GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0086003 cardiac muscle cell contraction;GO:0014870 response to muscle inactivity;GO:0001525 angiogenesis", "synthesized_glycan_count": 0, "hit_score": 144.4, "record_id": "P42336-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01658-1", "uniprot_id": [ { "id": "NC2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01658", "type": "external" } ], "mass": 19444.0, "length": 176, "protein_name": "Protein Dr1", "gene_name": "DR1", "organism": "Human", "refseq_name": "protein Dr1", "refseq_ac": [ { "id": "NP_001929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001929", "type": "external" } ], "gene_names_uniprotkb": "DR1", "gene_names_refseq": "DR1; NC2-BETA; NC2B; NC2; NCB2", "protein_names_uniprotkb": "Protein Dr1; Down-regulator of transcription 1; NC2-beta; Negative cofactor 2-beta; TATA-binding protein-associated phosphoprotein", "protein_names_refseq": "TATA-binding protein-associated phosphoprotein; negative cofactor 2-beta; protein Dr1", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); muscular disease (Disease Ontology:DOID:0080000); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); familial hyperlipidemia (Disease Ontology:DOID:1168); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); familial combined hyperlipidemia (Disease Ontology:DOID:13809); familial lipoprotein lipase deficiency (Disease Ontology:DOID:14118); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); coronary artery disease (Disease Ontology:DOID:3393); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1810); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 112, "publication_id_list": "10786633;10821277;11461703;12393701;12482972;12670868;1339312;14636557;14992727;15199122;15313887;16227571;16239140;16387653;16829959;16878130;16892064;17287340;17355966;17500065;17612494;17671196;17925232;17998332;18381289;18598942;18623064;18669648;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19413330;19556245;19664995;20018852;20068231;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;22223895;22266653;22327296;22652693;22665483;23186163;23301498;23508102;23739916;23995757;24244196;24368734;24680668;24715725;25561738;25593305;26324722;26886794;26992070;27563068;27698142;27760318;28182322;28218747;28398509;28514659;28832583;28834231;29138278;29242379;29393594;29557506;29897600;29937342;30429286;31400120;31485071;31544921;31844290;32350084;32387766;32897882;32983136;33657400;33691108;33912179;33936100;33968037;34012049;34019948;34357683;34932366;34933446;35033534;35190547;35439434;36284347;38194758;8670811;8836190;9427644;9558366;9880483", "class_list": "", "function": "Downregulation of transcription 1 hinders the replication of Dabie bandavirus by promoting the expression of TLR7, TLR8, and TLR9 signaling pathway., [RefSeq, PubMed]; The association of the DR1/DRAP1 heterodimer with TBP results in a functional repression of both activated and basal transcription of class II genes. This interaction precludes the formation of a transcription-competent complex by inhibiting the association of TFIIA and/or TFIIB with TBP. Can bind to DNA on its own. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4., [UniProtKB, PubMed, PubMed]; This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0017025 TBP-class protein binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0090575 RNA polymerase II transcription regulator complex;GO:0072686 mitotic spindle;GO:0017054 negative cofactor 2 complex", "go_biological_process": "GO:0017055 negative regulation of RNA polymerase II transcription preinitiation complex assembly;GO:0090043 regulation of tubulin deacetylation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q01658-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49257-1", "uniprot_id": [ { "id": "LMAN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49257", "type": "external" } ], "mass": 57549.0, "length": 510, "protein_name": "Protein ERGIC-53", "gene_name": "LMAN1", "organism": "Human", "refseq_name": "protein ERGIC-53 precursor", "refseq_ac": [ { "id": "NP_005561", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005561", "type": "external" } ], "gene_names_uniprotkb": "LMAN1; ERGIC53; F5F8D", "gene_names_refseq": "ERGIC-53; ERGIC53; F5F8D; FMFD1; LMAN1; MCFD1; MR60; gp58", "protein_names_uniprotkb": "Protein ERGIC-53; ER-Golgi intermediate compartment 53 kDa protein; Gp58; Intracellular mannose-specific lectin MR60; Lectin mannose-binding 1", "protein_names_refseq": "ER-Golgi intermediate compartment 53 kDa protein; endoplasmic reticulum-golgi intermediate compartment protein 53; intracellular mannose-specific lectin MR60; protein ERGIC-53 precursor; protein ERGIC-53", "tax_id": 9606, "disease": "factor XIII deficiency (Disease Ontology:DOID:2211); factor V deficiency (Disease Ontology:DOID:2216); factor V and factor VIII, combined deficiency of, type 1 (MONDO:MONDO:0009206)", "pathway": " (hsa:3998); (R-HSA-204005); (R-HSA-5694530); (R-HSA-8980692); (R-HSA-9013106); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-948021)", "pathway_count": 10, "publication_count": 431, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10037681;10090935;10232922;10445031;10490598;10523665;10523675;10526156;10559958;10559959;10579713;10618392;10619026;10652252;10652265;10679020;10699171;10747087;10788476;10825291;10847683;10873388;10903204;10982397;11035026;11058585;11085924;11145705;11149925;11207612;11285137;11306556;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11784792;11804589;11804590;11840567;11864571;11884391;11912491;11919634;11927603;11956649;11967128;12070132;12071859;12093360;12177196;12195014;12221077;12221096;12235121;12237308;12376551;12531887;12577064;12650940;12665801;12717434;12727195;12857875;12877655;13130098;14512443;1464587;14675773;15023524;15037235;15064355;15107133;15133129;15169870;15302923;15342493;15485661;15489334;15542837;15601624;15611138;15814684;15850391;15866170;16081809;16112081;16116428;16129679;16184169;16217026;16243035;16243036;16257008;16303754;16339170;16467373;16495487;16519628;1660188;16624868;16630611;16776779;16777452;16777849;16862148;16896804;16912714;16914516;17005010;17010120;17027967;17038314;17060455;17064668;17077126;17158234;17192411;17214551;17269730;17287728;17316621;17499046;17562788;17562871;17607000;17684057;17698854;17702745;17765681;17804252;17916560;17932950;17942708;17976533;18025080;18056264;18158243;18191593;18218625;18283111;18287528;18391077;18662984;18697831;18829452;18843296;19164740;19265014;19269366;19269969;19494238;19534724;19566487;19581409;19605563;19635168;19638414;19656848;19673492;19713215;19787799;20030946;20101212;20138881;20142513;20166139;20400958;20427317;20477988;20533886;20545907;20591975;20628200;20660154;20679433;20679435;20805473;20966969;21148482;21151158;21269460;21351730;21378159;21454492;21478858;21525241;21532587;21565175;21576392;21621533;21689688;21699497;21757538;21865595;21878990;21936715;22013193;22096251;22157747;22298643;22305756;22337587;22665057;22673745;22675024;22734669;22790947;22911862;22992742;23087206;23096567;23200924;23255595;23378591;23434736;23479643;23481700;23555621;23572525;23584533;23698585;23709226;23757206;23852824;23864707;23870057;23870313;24086303;24102721;24119662;24128008;24259668;24275569;24335996;24352656;24498414;24623723;24659802;24714562;24806965;24917561;24933155;25202031;25211221;25406594;25418920;25425145;25469497;25492864;25502872;25505266;25576301;25586378;25619252;25619253;25645385;25704760;25746724;25813380;25862245;25944712;26016997;26154972;26371245;26375851;26529257;26628301;26728094;26811146;26887924;26992070;27090790;27145964;27216196;27397612;27452731;27481945;27600516;27713499;27846572;27852748;27862975;27893789;27920218;27986909;28112683;28196833;28228285;28356423;28486133;28584191;28675934;28832583;28834231;28904123;28947137;29082580;29146911;29237092;29242379;29371260;29393594;29493099;29508533;29557506;29632046;29632711;29679592;29776664;29786170;30315122;30397120;30410026;30429286;30459171;30728747;31105010;31142615;31154438;31217245;31389670;31530632;31611695;31844290;31848261;31871319;32157095;32161166;32203420;32265295;32350084;32356523;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33214551;33298915;33392160;33465208;33592498;33717175;33912179;33936100;33968037;34185709;34211107;34357683;34725712;34779586;34932366;35051231;35154160;35251023;35322856;35561310;35580925;36010968;36241641;36870056;38493152;38665916;39302247;39534244;40596516;40914422;7476457;7479768;7673236;7721814;7753201;7876089;8021274;8205612;8221884;8223692;8537347;8543060;8571126;8617235;8620540;8643598;8645157;8649427;8662891;8663406;8756646;8769096;8807639;8810315;8816443;8854877;8939998;8945468;9013646;9045860;9094723;9111050;9113980;9150144;9177194;9245995;9252344;9305890;9307973;9395526;9418861;9472029;9490638;9497316;9535835;9546392;9548756;9647643;9659915;9670022;9705280;9792683;9822605;9829970", "class_list": "glycogene", "function": "Data present the crystal structure of the LMAN1/MCFD2 complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 protein., [RefSeq, PubMed]; LMAN1 is a receptor for house dust mite allergens., [RefSeq, PubMed]; LMAN1-MCFD2 complex is a cargo receptor for the ER-Golgi transport of alpha1-antitrypsin., [RefSeq, PubMed]; Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 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": 1, "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": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 629, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 3, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q12895;Q8N5I7;Q9UQG1;Q9UQG2;Q9UQG3;Q9UQG4;Q9UQG5;Q9UQG6;Q9UQG7;Q9UQG8;Q9UQG9;Q9UQH0;Q9UQH1;Q9UQH2", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051082 unfolded protein binding;GO:0005537 D-mannose binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0031012 extracellular matrix", "go_biological_process": "GO:0015031 protein transport;GO:0007596 blood coagulation;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006457 protein folding;GO:0010638 positive regulation of organelle organization", "synthesized_glycan_count": 0, "hit_score": 45.1, "record_id": "P49257-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC57-1", "uniprot_id": [ { "id": "M1AP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC57", "type": "external" } ], "mass": 59386.0, "length": 530, "protein_name": "Meiosis 1 arrest protein", "gene_name": "M1AP", "organism": "Human", "refseq_name": "meiosis 1 arrest protein isoform 2", "refseq_ac": [ { "id": "NP_001268224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268224", "type": "external" } ], "gene_names_uniprotkb": "M1AP; C2orf65; SPATA37", "gene_names_refseq": "C2orf65; D6Mm5e; M1AP; SPATA37; SPGF48", "protein_names_uniprotkb": "Meiosis 1 arrest protein; Meiosis 1-arresting protein; Meiosis 1-associated protein; Spermatogenesis-associated protein 37", "protein_names_refseq": "meiosis 1 arrest protein isoform 2; meiosis 1 arrest protein; meiosis 1 arresting protein; spermatogenesis associated 37", "tax_id": 9606, "disease": "spermatogenic failure 48 (Disease Ontology:DOID:0112176)", "pathway": " (hsa:130951)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;32017041;32673564;33392160;34509645;35051231;35341049", "class_list": "", "function": "An M1AP homozygous splice-site mutation associated with severe oligozoospermia in a consanguineous family., [RefSeq, PubMed]; Required for meiosis I progression during spermatogenesis., [UniProtKB, PubMed]; Structural analysis of M1AP variants associated with severely impaired spermatogenesis causing male infertility. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is likely to function in progression of meiosis. A similar protein in mouse plays a role in gametogenesis in both sexes. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7Z6E7;E9PGG8;Q6ZP30;Q96L07", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006396 RNA processing;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006325 chromatin organization;GO:0007292 female gamete generation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8TC57-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ39-1", "uniprot_id": [ { "id": "DDX50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ39", "type": "external" } ], "mass": 82565.0, "length": 737, "protein_name": "ATP-dependent RNA helicase DDX50", "gene_name": "DDX50", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DDX50", "refseq_ac": [ { "id": "NP_076950", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076950", "type": "external" } ], "gene_names_uniprotkb": "DDX50", "gene_names_refseq": "DDX50; GU2; GUB; RH-II/GuB; mcdrh", "protein_names_uniprotkb": "ATP-dependent RNA helicase DDX50; 3.6.4.13; DEAD box protein 50; Gu-beta; Nucleolar protein Gu2", "protein_names_refseq": "ATP-dependent RNA helicase DDX50; DEAD (Asp-Glu-Ala-Asp) box polypeptide 50; DEAD box protein 50; DEAD-box helicase 50; RNA helicase II/Gu beta; gu-beta; malignant cell derived RNA helicase; nucleolar protein GU2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79009)", "pathway_count": 1, "publication_count": 93, "publication_id_list": "11237011;11891046;12027455;12429849;17081983;18615715;18669648;19651622;20068231;21406692;22121020;23186163;23481700;24029068;25418920;25576301;25645385;25802875;25810538;25880248;26154972;26375851;26758079;26768311;26811146;27600516;27846572;27920218;28063628;28181036;28228285;28411811;28510447;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30315122;30484775;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33123756;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34405274;34932366;35051231;35215908;35318648;35561310;35580925;36010968;36241641;37938771;38665916;38773330;40914422", "class_list": "", "function": "ATP-dependent RNA helicase that may play a role in various aspects of RNA metabolism including pre-mRNA splicing or ribosomal RNA production (PubMed:12027455). Also acts as a viral restriction factor and promotes the activation of the NF-kappa-B and IRF3 signaling pathways following its stimulation with viral RNA or infection with RNA and DNA viruses (PubMed:35215908). For instance, decreases vaccinia virus, herpes simplex virus, Zika virus or dengue virus replication during the early stage of infection (PubMed:28181036, PubMed:35215908). Mechanistically, acts via the adapter TICAM1 and independently of the DDX1-DDX21-DHX36 helicase complex to induce the production of interferon-beta (PubMed:35215908)., [UniProtKB, PubMed, PubMed, PubMed]; DDX50 Is a Viral Restriction Factor That Enhances IRF3 Activation. Publication Status: Online-Only, [RefSeq, PubMed]; DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]., [RefSeq]; Results provide evidence that DDX50 negatively regulates DENV-2 replication during the early stages of infection by inducing IFN-beta production., [RefSeq, PubMed]; Solution structure of the GUCT domain from human RNA helicase II/Gu beta reveals the RRM fold, but implausible RNA interactions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VX37;Q8WV76;Q9BWI8", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9BQ39-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX47-1", "uniprot_id": [ { "id": "MARH5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX47", "type": "external" } ], "mass": 31232.0, "length": 278, "protein_name": "E3 ubiquitin-protein ligase MARCHF5", "gene_name": "MARCHF5", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MARCHF5", "refseq_ac": [ { "id": "NP_060294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060294", "type": "external" } ], "gene_names_uniprotkb": "MARCHF5; MARCH5; RNF153", "gene_names_refseq": "MARCH-V; MARCH5; MARCHF5; MITOL; RNF153", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MARCHF5; 2.3.2.27; MARCH-V; MITOL; Membrane-associated RING finger protein 5; Membrane-associated RING-CH protein V; Mitochondrial ubiquitin ligase; RING finger protein 153; RING-type E3 ubiquitin transferase MARCHF5", "protein_names_refseq": "E3 ubiquitin-protein ligase MARCH5; E3 ubiquitin-protein ligase MARCHF5; RING-type E3 ubiquitin transferase MARCH5; RING-type E3 ubiquitin transferase MARCHF5; membrane associated ring finger 5; membrane-associated RING finger protein 5; membrane-associated RING-CH protein V; membrane-associated ring finger (C3HC4) 5; mitochondrial ubiquitin ligase; ring finger protein 153", "tax_id": 9606, "disease": "", "pathway": " (hsa:54708)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "14722266;16874301;16936636;17606867;19741096;20103533;25418920;26246171;26992070;28218747;28228285;29242379;29393594;29437277;29557506;30315122;30379171;30779550;31154438;31217245;31844290;31881323;32265295;32357974;32387766;32938616;33392160;33912179;33936100;33968037;34171305;34185709;34357683;35051231;35318648;35580925;35705054;36010968;36241641;36284347;37575012;37916870;37932447;37938771;38211832;38861187;39423819;39423820;40071916;40596516", "class_list": "", "function": "(Microbial infection) Plays a positive role in Japanese encephalitis virus infection by catalyzing the 'Lys-27'-linked polyubiquitination of viral E protein to facilitate efficient viral attachment., [UniProtKB, PubMed]; A novel mitochondrial ubiquitin ligase, designated MITOL, which is localized in the mitochondrial outer membrane, plays a critical role in mitochondrial dynamics through the control of mitochondrial fission proteins., [RefSeq, PubMed]; MARCH-V has a crucial role in the control of mitochondrial morphology by regulating MFN2 and Drp1 activities., [RefSeq, PubMed]; MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]., [RefSeq]; MARCH5 promotes hepatocellular carcinoma progression by inducing p53 ubiquitination degradation. Publication Status: Online-Only, [RefSeq, PubMed]; MARCH5-mediated downregulation of ACC2 promotes fatty acid oxidation and tumor progression in ovarian cancer., [RefSeq, PubMed]; Mitochondrial E3 ubiquitin-protein ligase that plays a crucial role in the control of mitochondrial morphology by acting as a positive regulator of mitochondrial fission and as an important regulator of immune response (PubMed:16874301, PubMed:17606867, PubMed:26246171, PubMed:31881323). Plays a crucial role in maintaining mitochondrial homeostasis by regulating the dynamics of mitochondria through the ubiquitination of key proteins involved in fission and fusion such as FIS1, DNM1L and MFN1 (PubMed:16874301, PubMed:17606867). Acts as a critical determinant of mitotic apoptosis through both MCL1-dependent and -independent pathways (By similarity). Turns off persistent immune signaling by degrading oligomeric complexes of retinoic acid-inducible gene I/DDX58 and mitochondrial antiviral-signaling protein/MAVS formed upon RNA virus infection (PubMed:26246171, PubMed:31881323, PubMed:40071916). Promotes STING-mediated type-I interferon production via 'Lys-63'-linked ubiquitination of STING1 thereby preserving its activity and preventing the formation of inactive STING1 polymers (PubMed:37916870). Plays also an essential role in the formation of PEX3-containing vesicles in the de novo biogenesis of peroxisomes from mitochondria (PubMed:39423820, PubMed:39423819). Acts as a regulator of NLRP3 inflammasome activation on the mitochondria by mediating the 'Lys-27'-linked polyubiquitination of NLRP3, positively regulating the NLRP3-NEK7 complex formation and NLRP3 oligomerization (PubMed:37575012)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PD-1 signaling negatively regulates the common cytokine receptor gamma chain via MARCH5-mediated ubiquitination and degradation to suppress anti-tumor immunity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051020 GTPase binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005778 peroxisomal membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0090140 regulation of mitochondrial fission;GO:0070585 protein localization to mitochondrion;GO:0000209 protein polyubiquitination;GO:0051865 protein autoubiquitination;GO:0070936 protein K48-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9NX47-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15083-1", "uniprot_id": [ { "id": "ERC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15083", "type": "external" } ], "mass": 110558.0, "length": 957, "protein_name": "ERC protein 2", "gene_name": "ERC2", "organism": "Human", "refseq_name": "ERC protein 2", "refseq_ac": [ { "id": "NP_056391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056391", "type": "external" } ], "gene_names_uniprotkb": "ERC2; KIAA0378", "gene_names_refseq": "CAST1; CAST; ELKSL; ERC2; SPBC110; Spc110", "protein_names_uniprotkb": "ERC protein 2", "protein_names_refseq": "CAZ-associated structural protein; ERC protein 2; cytomatrix protein p110", "tax_id": 9606, "disease": "", "pathway": " (hsa:26059)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;12923177;17924679;18452278;18767875;20068231;28657654;29557506;29786170;30315122;31671734;31844290;32157095;32387766;32938616;32983136;33968037;34509645;34561969;34790172;34932366;35051231;35318648;38253038", "class_list": "", "function": "IDH1 R132C and ERC2 L309I Mutations Contribute to the Development of Maffucci's Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; In vitro results indicate that ERC2/CAST, an active zone-specific isoform, interacts with all of the known isoforms of liprin-alpha and that liprin-alpha1 associates with both ERC2 and ERC1b, [RefSeq, PubMed]; Serine-Arginine Protein Kinase SRPK2 Modulates the Assembly of the Active Zone Scaffolding Protein CAST1/ERC2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]., [RefSeq]; Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "Q2T9F6;Q86TK4", "ec_number_list": [], "go_molecular_function": "GO:0098882 structural constituent of presynaptic active zone", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0098831 presynaptic active zone cytoplasmic component;GO:0005856 cytoskeleton;GO:0030426 growth cone", "go_biological_process": "GO:0048790 maintenance of presynaptic active zone structure;GO:0099509 regulation of presynaptic cytosolic calcium ion concentration;GO:0016082 synaptic vesicle priming;GO:0150037 regulation of calcium-dependent activation of synaptic vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "O15083-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULC4-1", "uniprot_id": [ { "id": "MCTS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULC4", "type": "external" } ], "mass": 20555.0, "length": 181, "protein_name": "Malignant T-cell-amplified sequence 1", "gene_name": "MCTS1", "organism": "Human", "refseq_name": "malignant T-cell-amplified sequence 1 isoform 2", "refseq_ac": [ { "id": "NP_001131026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131026", "type": "external" } ], "gene_names_uniprotkb": "MCTS1; MCT1", "gene_names_refseq": "IMD118; MCT-1; MCT1; MCTS1", "protein_names_uniprotkb": "Malignant T-cell-amplified sequence 1; MCT-1; Multiple copies T-cell malignancies", "protein_names_refseq": "malignant T-cell amplified sequence 1; malignant T-cell-amplified sequence 1 isoform 2; multiple copies T-cell malignancies; multiple copies in T-cell lymphoma-1", "tax_id": 9606, "disease": "immunodeficiency 118 (Disease Ontology:DOID:0061084)", "pathway": " (hsa:28985)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "10440924;11709712;12637315;12938157;15897892;16322206;16533400;16982740;17016429;17416211;18991276;20068231;20713520;23301498;23481700;24366607;24715725;25576301;25645385;25810538;26992070;27600516;27846572;27862975;27920218;28228285;28446606;28832583;28834231;28855257;28904123;29242379;29493099;29508533;29786170;30315122;30429286;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33936100;33968037;34019948;34211107;34357683;34405274;34509645;34704820;35051231;35254053;35274760;35580925;36241641;37634410;37875108;37938771;38665916;40596516;9766643", "class_list": "", "function": "Demonstrated the presence of sequence-specific DNA-binding protein in nuclear extracts designated as LMBF; the 26-mer oligonucleotide containing the LMBF binding site is required for maximum transcriptional activity of the MCT-1 promoter, [RefSeq, PubMed]; Human MCTS1-dependent translation of JAK2 is essential for IFN-gamma immunity to mycobacteria., [RefSeq, PubMed]; MCTS1 enhances the proliferation of laryngeal squamous cell carcinoma via promoting OTUD6B-1 mediated LIN28B deubiquitination., [RefSeq, PubMed]; MCTS1 promotes laryngeal squamous cell carcinoma cell growth via enhancing LARP7 stability., [RefSeq, PubMed]; Prognostic value of malignant T cell-amplified sequence 1 in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Translation regulator forming a complex with DENR to promote translation reinitiation. Translation reinitiation is the process where the small ribosomal subunit remains attached to the mRNA following termination of translation of a regulatory upstream ORF (uORF), and resume scanning on the same mRNA molecule to initiate translation of a downstream ORF, usually the main ORF (mORF). The MCTS1/DENR complex is pivotal to two linked mechanisms essential for translation reinitiation. Firstly, the dissociation of deacylated tRNAs from post-termination 40S ribosomal complexes during ribosome recycling. Secondly, the recruitment in an EIF2-independent manner of aminoacylated initiator tRNA to P site of 40S ribosomes for a new round of translation (PubMed:16982740, PubMed:20713520, PubMed:37875108). This regulatory mechanism governs the translation of more than 150 genes which translation reinitiation is MCTS1/DENR complex-dependent (PubMed:16982740, PubMed:20713520, PubMed:37875108). Consequently, modulates various unrelated biological processes including cell cycle regulation and DNA damage signaling and repair (PubMed:10440924, PubMed:11709712, PubMed:12637315, PubMed:15897892, PubMed:16322206, PubMed:17016429, PubMed:17416211, PubMed:9766643). Notably, it positively regulates interferon gamma immunity to mycobacteria by enhancing the translation of JAK2 (PubMed:37875108)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Tumor cell lines overexpressing MCT-1 exhibited increased growth rates and displayed increased protection against apoptosis induced by serum starvation, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "B4DGY2;Q502X6", "ec_number_list": [], "go_molecular_function": "GO:0043024 ribosomal small subunit binding;GO:0003743 translation initiation factor activity;GO:0000339 RNA cap binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0002188 translation reinitiation;GO:0032790 ribosome disassembly;GO:0075522 IRES-dependent viral translational initiation;GO:0006351 DNA-templated transcription;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9ULC4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57105-1", "uniprot_id": [ { "id": "SYJ2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P57105", "type": "external" } ], "mass": 15928.0, "length": 145, "protein_name": "Synaptojanin-2-binding protein", "gene_name": "SYNJ2BP", "organism": "Human", "refseq_name": "synaptojanin-2-binding protein", "refseq_ac": [ { "id": "NP_060843", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060843", "type": "external" } ], "gene_names_uniprotkb": "SYNJ2BP; OMP25", "gene_names_refseq": "ARIP2; OMP25; SYNJ2BP", "protein_names_uniprotkb": "Synaptojanin-2-binding protein; Mitochondrial outer membrane protein 25", "protein_names_refseq": "activin receptor interacting protein 5; mitochondrial outer membrane protein 25; synaptojanin-2-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55333)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;20112406;23481700;24025447;25576301;25645385;26154972;27600516;28832583;28834231;29242379;29393594;29557506;29786170;31154438;31844290;31937595;31998317;32157095;32387766;32488085;32938616;33141586;33298915;33592498;33968037;34087483;34171305;34405274;34509645;34932366;35051231;36010968;38158052", "class_list": "", "function": "Regulates endocytosis of activin type 2 receptor kinases through the Ral/RALBP1-dependent pathway and may be involved in suppression of activin-induced signal transduction., [UniProtKB, UniProtKB]; SYNJ2BP ameliorates intervertebral disc degeneration by facilitating mitochondria-associated endoplasmic reticulum membrane formation and mitochondrial Zn[2+] homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9630, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q49SH3;Q96IA4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0001937 negative regulation of endothelial cell proliferation;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0016525 negative regulation of angiogenesis;GO:0010596 negative regulation of endothelial cell migration;GO:0008593 regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P57105-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NU23-1", "uniprot_id": [ { "id": "LYRM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NU23", "type": "external" } ], "mass": 10449.0, "length": 88, "protein_name": "LYR motif-containing protein 2", "gene_name": "LYRM2", "organism": "Human", "refseq_name": "LYR motif-containing protein 2", "refseq_ac": [ { "id": "NP_065199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065199", "type": "external" } ], "gene_names_uniprotkb": "LYRM2", "gene_names_refseq": "DJ122O8.2; LYRM2", "protein_names_uniprotkb": "LYR motif-containing protein 2", "protein_names_refseq": "LYR motif-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57226); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11220739;11237011;17936786;19752196;20406883;20552642;20858599;21924235;23553477;24191001;24714562;25418920;25576301;25678554;26154972;26728094;26992070;27499296;27600516;27626371;27846572;27920218;28228285;28832583;28904123;29242379;29393594;29632046;30429286;30779550;31004700;31530632;31666358;31844290;31848261;31866046;32157095;32265295;32320651;32387766;32983136;33592498;33691108;33879611;33882309;33968037;34171305;34509645;35333655;35614220;37217939;38199007;9571201", "class_list": "", "function": "Authors identified a new Akt-S58phos-LYRM2-Complex I axis, which is responsible for the LYRM2-induced tumor growth and the activation of OXPHOS in colorectal cancer., [RefSeq, PubMed]; Involved in efficient integration of the N-module into mitochondrial respiratory chain complex I., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "B2R4U2;E1P517", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9NU23-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969X5-1", "uniprot_id": [ { "id": "ERGI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969X5", "type": "external" } ], "mass": 32592.0, "length": 290, "protein_name": "Endoplasmic reticulum-Golgi intermediate compartment protein 1", "gene_name": "ERGIC1", "organism": "Human", "refseq_name": "endoplasmic reticulum-Golgi intermediate compartment protein 1", "refseq_ac": [ { "id": "NP_001026881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026881", "type": "external" } ], "gene_names_uniprotkb": "ERGIC1; ERGIC32; HT034; KIAA1181", "gene_names_refseq": "AMC2; AMCN; ERGIC-32; ERGIC1; ERGIC32; NET24", "protein_names_uniprotkb": "Endoplasmic reticulum-Golgi intermediate compartment protein 1; ER-Golgi intermediate compartment 32 kDa protein; ERGIC-32", "protein_names_refseq": "ER-Golgi intermediate compartment 32 kDa protein; endoplasmic reticulum-Golgi intermediate compartment protein 1; endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1; endoplasmic reticulum-golgi intermediate compartment 32 kDa protein", "tax_id": 9606, "disease": "neurogenic-type arthrogryposis multiplex congenita-2 (Disease Ontology:DOID:0090124)", "pathway": " (hsa:57222)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10931946;11230166;11237011;15308636;18491316;19159218;19724895;19748539;19851296;20198315;23481700;25576301;25880248;25892735;26154972;26992070;27452731;27726376;27846572;27920218;28228285;28317099;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29549924;29557506;29632046;29786170;29789417;30315122;30410026;30429286;30459171;30524438;30779550;31020640;31142615;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34037256;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37938771;38665916", "class_list": "", "function": "Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis., [RefSeq, PubMed]; ERGIC-32 functions as a modulator of the hErv41-hErv46 complex by stabilizing hErv46, [RefSeq, PubMed]; ERGIC1 might play an inhibitory role in the initiation and progression of gastric cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; Plays a role in transport between endoplasmic reticulum and Golgi., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Possible role in transport between endoplasmic reticulum and Golgi., [UniProtKB, PubMed]; This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [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": 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": 7, "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": "Q9H0L0;Q9H2J2;Q9ULN9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q969X5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53539-1", "uniprot_id": [ { "id": "FOSB_HUMAN", "url": "https://www.uniprot.org/uniprot/P53539", "type": "external" } ], "mass": 35928.0, "length": 338, "protein_name": "Protein FosB", "gene_name": "FOSB", "organism": "Human", "refseq_name": "protein FosB isoform 2", "refseq_ac": [ { "id": "NP_001107643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107643", "type": "external" } ], "gene_names_uniprotkb": "FOSB; G0S3", "gene_names_refseq": "AP-1; FOSB; G0S3; GOS3; GOSB", "protein_names_uniprotkb": "Protein FosB; FosB proto-oncogene, AP-1 transcription factor subunit; G0/G1 switch regulatory protein 3; Transcription factor AP-1 subunit FosB", "protein_names_refseq": "FBJ murine osteosarcoma viral oncogene homolog B; FosB proto-oncogene, AP-1 trancription factor subunit; G0/G1 switch regulatory protein 3; activator protein 1; protein FosB isoform 2; transcription factor AP-1 subunit FosB", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); withdrawal disorder (Disease Ontology:DOID:0060001); autism spectrum disorder (Disease Ontology:DOID:0060041); non-syndromic X-linked intellectual disability 50 (Disease Ontology:DOID:0112029); X-linked epilepsy with variable learning disabilities and behavior disorders (Disease Ontology:DOID:0112122); opioid abuse (Disease Ontology:DOID:11206); major depressive disorder (Disease Ontology:DOID:1470); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); morphine dependence (Disease Ontology:DOID:2560); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809); substance dependence (Disease Ontology:DOID:9973); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:2354); (R-HSA-9018519); (R-HSA-9031628); (R-HSA-9909649)", "pathway_count": 4, "publication_count": 271, "publication_id_list": "10203854;10381005;10500157;10611221;10611312;10656257;10734128;10826704;10828826;10872467;10873660;10882540;10984481;11010967;11018254;11027551;11034064;11103799;11136970;11165043;11237011;11280768;11331872;11343657;11345900;11410592;11452016;11567222;11581164;11682626;11755530;11840323;11956230;12399542;12498683;12511643;12612073;12618758;12959972;1301997;1377233;14522948;14597720;14631847;14675539;14969744;15001666;15102911;15161978;15276198;15282324;15343269;15345050;15449318;15514030;15542842;15620361;1570299;15733869;15836632;15880109;15986123;16009131;16034366;16046058;16087863;16113099;16136673;16187211;16221685;16260776;16287845;1630819;16339507;16407550;16484497;16574654;16687504;16732277;16980581;17013392;17088210;17088211;17088212;17241283;17277772;17463000;17495528;17510434;17632064;17637753;17666587;17690249;17898216;18056528;18088355;18160048;18187655;18219272;18256232;18322535;1833716;18358809;18456662;18476782;18524893;18533032;1861162;18762174;18805503;19001364;19020303;19061646;19088198;19098913;19116276;19193899;19194657;19274700;19295514;19321454;19383337;19718048;19926875;2017159;20219941;20220130;2040600;20473292;20498280;20506119;2052361;20570965;20682797;2072895;21057636;2109185;21106759;21151129;21326363;21445275;21486943;21573489;21621608;2181374;21835891;21878914;21934649;21940756;22053691;22056668;22065583;22265404;22302795;2237820;22492511;22545144;22704330;23145106;23172872;23192763;23303788;23403292;23435229;23723241;23906331;24060757;24167369;24371278;24735615;24854081;24885040;24973012;24998469;25248477;25296600;25365482;25433557;25542856;25569790;25633194;25663755;25674852;25728767;25748042;26018600;26056233;26153859;26204489;26462610;26479350;2676516;27041596;27062924;27128622;27220739;27886276;28076410;28275114;28286024;28539435;28981703;2919170;29351928;29559111;30385408;3045126;3127059;32183950;32542236;3281094;32860047;33968037;3498214;36241641;3672127;3677090;36898276;37461273;37478314;37553246;38665916;39413198;7551568;7559524;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;7935485;7937828;8090221;8090222;8195246;8197458;8248782;8413279;8419924;8483478;8576248;8583621;8668170;8756618;8846918;8876171;8918830;8985116;9032251;9084409;9201922;9338790;9343422;9388265;9390517;9418898;9611253;9622090;9671459;9722618;9731700;9770464;9774344;9808461;9822744;9858769", "class_list": "", "function": "2'3'-cGAMP interactome identifies 2'3'-cGAMP/Rab18/FosB signaling in cell migration control independent of innate immunity. Erratum:[Sci Adv. 2025 Jan 17;11(3):eadv6581. doi: 10.1126/sciadv.adv6581. PMID: 39823348], [RefSeq, PubMed]; Exhibits lower transactivation activity than isoform 1 in vitro (By similarity). The heterodimer with JUN does not display any transcriptional activity, and may thereby act as an transcriptional inhibitor (By similarity). May be involved in the regulation of neurogenesis in the hippocampus (By similarity). May play a role in synaptic modifications in nucleus accumbens medium spiny neurons and thereby play a role in adaptive and pathological reward-dependent learning, including maladaptive responses involved in drug addiction (By similarity). Seems to be more stably expressed with a half-life of ~9.5 hours in cell culture as compared to 1.5 hours half-life of isoform 1 (By similarity)., [UniProtKB, UniProtKB]; Expression of SARS-CoV-2 receptor angiotensin-converting enzyme 2 by activating protein-1 in human mast cells., [RefSeq, PubMed]; Heterodimerizes with proteins of the JUN family to form an AP-1 transcription factor complex, thereby enhancing their DNA binding activity to gene promoters containing an AP-1 consensus sequence 5'-TGA[GC]TCA-3' and enhancing their transcriptional activity (PubMed:12618758, PubMed:28981703). As part of the AP-1 complex, facilitates enhancer selection together with cell-type-specific transcription factors by collaboratively binding to nucleosomal enhancers and recruiting the SWI/SNF (BAF) chromatin remodeling complex to establish accessible chromatin (By similarity). Together with JUN, 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). Exhibits transactivation activity in vitro (By similarity). Involved in the display of nurturing behavior towards newborns (By similarity). May play a role in neurogenesis in the hippocampus and in learning and memory-related tasks by regulating the expression of various genes involved in neurogenesis, depression and epilepsy (By similarity). Implicated in behavioral responses related to morphine reward and spatial memory (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Lack of FOS/FOSB Gene Rearrangements in Ischemic Fasciitis Indicates Distinct Pathogenesis from Proliferative Fasciitis and Proliferative Myositis., [RefSeq, PubMed]; NOTCH4 potentiates the IL-13 induced genetic program in M2 alternative macrophages through the AP1 and IRF4-JMJD3 axis., [RefSeq, PubMed]; New kids on the block: FOS and FOSB gene. Review article, [RefSeq, PubMed]; The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. 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": 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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K9K5;A8VJE1;A8VJE6;A8VJF0;A8VJF3;A8VJF7;A8VJG1;A8VJG5;A8VJG9;E7EPR6;E9PHJ3;K7EKC1;K7EMJ6;Q49AD7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0035094 response to nicotine;GO:0045471 response to ethanol;GO:0001975 response to amphetamine", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "P53539-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14772-1", "uniprot_id": [ { "id": "FPGT_HUMAN", "url": "https://www.uniprot.org/uniprot/O14772", "type": "external" } ], "mass": 68010.0, "length": 607, "protein_name": "Fucose-1-phosphate guanylyltransferase", "gene_name": "FPGT", "organism": "Human", "refseq_name": "fucose-1-phosphate guanylyltransferase isoform 3", "refseq_ac": [ { "id": "NP_001186257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186257", "type": "external" } ], "gene_names_uniprotkb": "FPGT; GFPP", "gene_names_refseq": "FPGT; GFPP", "protein_names_uniprotkb": "Fucose-1-phosphate guanylyltransferase; 2.7.7.30; GDP-L-fucose diphosphorylase; GDP-L-fucose pyrophosphorylase", "protein_names_refseq": "GDP-L-fucose diphosphorylase; GDP-beta-L-fucose pyrophosphorylase; fucose-1-phosphate guanyltransferase; fucose-1-phosphate guanylyltransferase isoform 3", "tax_id": 9606, "disease": "aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); kidney failure (Disease Ontology:DOID:1074); adult respiratory distress syndrome (Disease Ontology:DOID:11394); toxic shock syndrome (Disease Ontology:DOID:14115); thrombocytopenia (Disease Ontology:DOID:1588); blood platelet disease (Disease Ontology:DOID:2218); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:8790); (R-HSA-6787639)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11237011;11326280;12056818;12753898;16086588;16185085;16582493;23774504;23922970;25645385;25892735;26992070;27738779;28832583;28904123;29242379;29437277;29557506;29769354;31154438;31217245;31844290;32157095;32357974;32387766;32938616;32983136;33298915;33912179;33968037;34171305;34357683;34509645;35051231;35580925;36010968;36284347;37217939;8910301;9525924;9603974;9804772", "class_list": "glycogene", "function": "A complete native data set has been collected as a first step in determining the three-dimensional structure of this enzyme., [RefSeq, PubMed]; Catalyzes the formation of GDP-L-fucose from GTP and L-fucose-1-phosphate (PubMed:9804772). Functions as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids (PubMed:9804772)., [UniProtKB, PubMed]; Identified five amino acid residues that are critical for catalysis., [RefSeq, PubMed]; L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]., [RefSeq]; The nature of the purine base is the major determinant in substrate specificity, followed by the nature of the hexose-1-P, and finally by the ribose moiety. Binding is enthalpy-driven and does not involve proton transfer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 72, "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": "A0A0A0MRP2;A6NMH3;B4DRX2;B4E2Y7;E9PNQ2;Q8N5J7", "ec_number_list": [ { "id": "2.7.7.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.30", "type": "external" } ], "go_molecular_function": "GO:0047341 fucose-1-phosphate guanylyltransferase activity;GO:0005525 GTP binding;GO:0000166 nucleotide binding;GO:0016772 transferase activity, transferring phosphorus-containing groups", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006004 fucose metabolic process;GO:0042350 GDP-L-fucose biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "O14772-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2K8-1", "uniprot_id": [ { "id": "TAOK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2K8", "type": "external" } ], "mass": 105406.0, "length": 898, "protein_name": "Serine/threonine-protein kinase TAO3", "gene_name": "TAOK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase TAO3 isoform b", "refseq_ac": [ { "id": "NP_001333417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333417", "type": "external" } ], "gene_names_uniprotkb": "TAOK3; DPK; JIK; KDS; MAP3K18", "gene_names_refseq": "DPK; JIK; MAP3K18; TAOK3; hKFC-A", "protein_names_uniprotkb": "Serine/threonine-protein kinase TAO3; 2.7.11.1; CTCL-associated antigen HD-CL-09; Cutaneous T-cell lymphoma-associated antigen HD-CL-09; Dendritic cell-derived protein kinase; JNK/SAPK-inhibitory kinase; Jun kinase-inhibitory kinase; Kinase from chicken homolog A; Thousand and one amino acid protein 3; hKFC-A", "protein_names_refseq": "CTCL-associated antigen HD-CL-09; JNK/SAPK-inhibitory kinase; STE20-like kinase; cutaneous T-cell lymphoma-associated antigen HD-CL-09; dendritic cell-derived protein kinase; jun kinase-inhibitory kinase; kinase from chicken homolog A; serine/threonine-protein kinase TAO3 isoform b; serine/threonine-protein kinase TAO3; thousand and one amino acid protein 3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); cancer (Disease Ontology:DOID:162); central nervous system disease (Disease Ontology:DOID:331)", "pathway": " (hsa:51347); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423)", "pathway_count": 4, "publication_count": 313, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559204;10559246;10579713;10618392;10699171;10699464;10847683;10873802;10924369;10958683;11007481;11058585;11085924;11145705;11149925;11237011;11278723;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11919634;11956649;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;13679851;14512443;14514689;1464587;14675773;14718541;14996095;15023524;15033976;15064355;15107133;15133129;15147912;15169870;15302923;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15777939;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16473593;16492808;16507994;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17060455;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17344846;17396146;17525332;17583407;17599059;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18347018;18396277;18426980;18653540;18662984;18669648;18691976;18697831;18838382;19269969;19369195;19494238;19534724;19605563;19651622;19673492;19713215;19934221;20068231;20166139;20400958;20460433;20679435;20810653;20949042;21148482;21151158;21378159;21406692;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22202175;22298643;22407364;22475431;22608513;22734669;22970203;23186163;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24623723;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25892735;26016997;26129894;26375851;26529257;26628301;26768311;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27862975;28114311;28196833;28228285;28356423;28832583;28904123;29089502;29242379;29358323;29382922;29493099;29557506;30315122;30373850;30429286;30524438;30853411;31154438;31389670;31844290;31848261;31871319;32157095;32203420;32350084;32357974;32387766;32502341;32807497;32897882;32938616;32983136;33298915;33414172;33592498;33717175;33968037;34087483;34171305;34357683;34506849;34509645;34634521;35051231;35251023;35580925;36284347;36581221;37705061;38166031;38956325;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;9705280;9792683;9822598;9843499;9988689", "class_list": "", "function": "STE20-type kinase TAOK3 regulates hepatic lipid partitioning., [RefSeq, PubMed]; Serine-Threonine Kinase TAO3-Mediated Trafficking of Endosomes Containing the Invadopodia Scaffold TKS5alpha Promotes Cancer Invasion and Tumor Growth., [RefSeq, PubMed]; Serine/threonine-protein kinase that acts as a regulator of the p38/MAPK14 stress-activated MAPK cascade and of the MAPK8/JNK cascade. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of upstream MAP2K3 and MAP2K6 kinases. Inhibits basal activity of the MAPK8/JNK cascade and diminishes its activation in response to epidermal growth factor (EGF). Positively regulates canonical T cell receptor (TCR) signaling by preventing early PTPN6/SHP1-mediated inactivation of LCK, ensuring sustained TCR signaling that is required for optimal activation and differentiation of T cells (PubMed:30373850). Phosphorylates PTPN6/SHP1 on 'Thr-394', leading to its polyubiquitination and subsequent proteasomal degradation (PubMed:38166031). Required for cell surface expression of metalloprotease ADAM10 on type 1 transitional B cells which is necessary for their NOTCH-mediated development into marginal zone B cells (By similarity). Also required for the NOTCH-mediated terminal differentiation of splenic conventional type 2 dendritic cells (By similarity). Positively regulates osteoblast differentiation by acting as an upstream activator of the JNK pathway (PubMed:32807497). Promotes JNK signaling in hepatocytes and positively regulates hepatocyte lipid storage by inhibiting beta-oxidation and triacylglycerol secretion while enhancing lipid synthesis (PubMed:34634521). Restricts age-associated inflammation by negatively regulating differentiation of macrophages and their production of pro-inflammatory cytokines (By similarity). Plays a role in negatively regulating the abundance of regulatory T cells in white adipose tissue (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TAOK3 Facilitates Esophageal Squamous Cell Carcinoma Progression and Cisplatin Resistance Through Augmenting Autophagy Mediated by IRGM., [RefSeq, PubMed]; The STE20 kinase TAOK3 controls the development of house dust mite-induced asthma in mice., [RefSeq, PubMed]; The induction of SHP-1 degradation by TAOK3 ensures the responsiveness of T cells to TCR stimulation., [RefSeq, PubMed]; The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [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": 13, "reported_mutagensis": 6, "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": "Q658N1;Q8IUM4;Q9HC79;Q9NZM9;Q9UHG7", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004860 protein kinase inhibitor activity;GO:0016740 transferase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005886 plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0006281 DNA repair;GO:0006468 protein phosphorylation;GO:0046330 positive regulation of JNK cascade;GO:0000165 MAPK cascade;GO:0048812 neuron projection morphogenesis", "synthesized_glycan_count": 0, "hit_score": 31.4, "record_id": "Q9H2K8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24071-1", "uniprot_id": [ { "id": "FCAR_HUMAN", "url": "https://www.uniprot.org/uniprot/P24071", "type": "external" } ], "mass": 32265.0, "length": 287, "protein_name": "Immunoglobulin alpha Fc receptor", "gene_name": "FCAR", "organism": "Human", "refseq_name": "immunoglobulin alpha Fc receptor isoform a precursor", "refseq_ac": [ { "id": "NP_001991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001991", "type": "external" } ], "gene_names_uniprotkb": "FCAR; CD89", "gene_names_refseq": "CD89; CTB-61M7.2; FCAR; FcalphaRI; FcalphaR", "protein_names_uniprotkb": "Immunoglobulin alpha Fc receptor; IgA Fc receptor", "protein_names_refseq": "Fc fragment of IgA receptor; Fc fragment of IgA, receptor for; immunoglobulin alpha Fc receptor isoform a precursor; immunoglobulin alpha Fc receptor", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); IgA glomerulonephritis (Disease Ontology:DOID:2986)", "pathway": " (hsa:2204); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "12768205;12783876;14759258;17548632;18045383;18083107;2258698;23650620;29557506;32076466;32983136;33043033;33392160;35051231;35580925;37872175;7522255;7636188;8666819;8692836;8836118;9367406", "class_list": "", "function": "Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production., [UniProtKB, PubMed]; SIgA structures bound to Streptococcus pyogenes M4 and human CD89 provide insights into host-pathogen interactions. Publication Status: Online-Only, [RefSeq, PubMed]; Serum Soluble CD89-IgA Complexes Are Elevated in IgA Nephropathy without Immunosuppressant History. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described 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": 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": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q13603;Q13604;Q15727;Q15728;Q1AJL7;Q1AJL8;Q1AJL9;Q53X38;Q53X39;Q92587;Q92588;Q92590;Q92592;Q92593;Q9UEK0", "ec_number_list": [], "go_molecular_function": "GO:0019766 IgA receptor activity;GO:0004888 transmembrane signaling receptor activity;GO:0019862 IgA binding;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0035457 cellular response to interferon-alpha;GO:0038093 Fc receptor signaling pathway;GO:0006955 immune response;GO:0002446 neutrophil mediated immunity", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P24071-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYD2-1", "uniprot_id": [ { "id": "RM09_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYD2", "type": "external" } ], "mass": 30243.0, "length": 267, "protein_name": "Large ribosomal subunit protein bL9m", "gene_name": "MRPL9", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL9m isoform 2", "refseq_ac": [ { "id": "NP_001287662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287662", "type": "external" } ], "gene_names_uniprotkb": "MRPL9", "gene_names_refseq": "L9mt; MRPL9; bL9m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL9m; 39S ribosomal protein L9, mitochondrial; L9mt; MRP-L9", "protein_names_refseq": "39S ribosomal protein L9, mitochondrial; large ribosomal subunit protein bL9m isoform 2; mitochondrial large ribosomal subunit protein bL9m", "tax_id": 9606, "disease": "", "pathway": " (hsa:65005); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 54, "publication_id_list": "11237011;11279069;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;21907147;22172991;2250005;23481700;24715725;25233460;25278503;25838379;26992070;27029019;27862975;28832583;28892042;28904123;29242379;29632046;29786170;30315122;30524438;31222486;31844290;32157095;32161166;32387766;32938616;33243891;33592498;33878294;33936100;33968037;33981976;34087483;34357683;34509645;34561969;35051231;35177605;36010968;36233293;36241641;36302763;36596788;37141370;37343379", "class_list": "", "function": "Identification of a novel therapeutic target for lung cancer: Mitochondrial ribosome protein L9., [RefSeq, PubMed]; Interaction of MRPL9 and GGCT Promotes Cell Proliferation and Migration by Activating the MAPK/ERK Pathway in Papillary Thyroid Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RD99;Q5SZR2;Q9BSW8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9BYD2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVH7-1", "uniprot_id": [ { "id": "ESPNL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVH7", "type": "external" } ], "mass": 108132.0, "length": 1005, "protein_name": "Espin-like protein", "gene_name": "ESPNL", "organism": "Human", "refseq_name": "espin-like protein isoform 2", "refseq_ac": [ { "id": "NP_001295299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295299", "type": "external" } ], "gene_names_uniprotkb": "ESPNL", "gene_names_refseq": "ESPNL", "protein_names_uniprotkb": "Espin-like protein", "protein_names_refseq": "espin-like protein isoform 2; espin-like protein", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 36 (Disease Ontology:DOID:0110494)", "pathway": " (hsa:339768); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 15, "publication_id_list": "10025409;10821263;11163272;11237011;19413330;23481700;28218747;28228285;29557506;29789417;30315122;31844290;32983136;35051231;36215666", "class_list": "", "function": "Binds to but does not cross-link actin. Required for the formation and maintenance of inner ear hair cell stereocilia and staircase formation. Essential for normal hearing., [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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q66K27;Q6ZVG1;Q8IVU2", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0032426 stereocilium tip", "go_biological_process": "GO:0051017 actin filament bundle assembly;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6ZVH7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FG2-1", "uniprot_id": [ { "id": "ELMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FG2", "type": "external" } ], "mass": 43046.0, "length": 381, "protein_name": "ELMO domain-containing protein 3", "gene_name": "ELMOD3", "organism": "Human", "refseq_name": "ELMO domain-containing protein 3 isoform b", "refseq_ac": [ { "id": "NP_001128493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128493", "type": "external" } ], "gene_names_uniprotkb": "ELMOD3; PP4068; RBED1; RBM29", "gene_names_refseq": "DFNA81; DFNB88; ELMOD3; LST3; RBED1; RBM29", "protein_names_uniprotkb": "ELMO domain-containing protein 3; RNA-binding motif and ELMO domain-containing protein 1; RNA-binding motif protein 29; RNA-binding protein 29", "protein_names_refseq": "ELMO domain-containing protein 3 isoform b; ELMO/CED-12 domain containing 3; RNA binding motif and ELMO/CED-12 domain 1; RNA-binding motif and ELMO domain-containing protein 1; RNA-binding motif protein 29; deafness, autosomal recessive 88; liver-specific organic anion transporter 3TM12; organic anion transporter LST-3b", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 81 (Disease Ontology:DOID:0070608); autosomal recessive nonsyndromic deafness 88 (Disease Ontology:DOID:0110533)", "pathway": " (hsa:84173)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;15498874;23481700;24039609;24616099;27920218;28904123;29557506;29713870;30379171;31800155;31844290;32157095;33968037;36010968;37708136", "class_list": "", "function": "Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity., [UniProtKB, PubMed]; Collectively, our data provide the first insights into the expression and biochemical properties of ELMOD3 and highlight its functional links to sound perception and actin cytoskeleton., [RefSeq, PubMed]; ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario., [RefSeq, PubMed]; Gene regulation analysis of patient-derived iPSCs and its CRISPR-corrected control provides a new tool for studying perturbations of ELMOD3 c.512A>G mutation during the development of inherited hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; The analysis of the stability of the wild-type (WT) and mutant ELMOD3 protein shows that the decay of p.His171Arg is faster than that of the WT, suggesting a shorter halflife of the c.512A > G variant. A novel variant in the ELMOD3 gene, encoding a member of the engulfment and cell motility (ELMO) family, [RefSeq, PubMed]; The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity., [RefSeq, PubMed]; This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "B8ZZD6;D6W5K4;Q2M1K3;Q2XSU3;Q2XSU4;Q8NAC1;Q8TCK4;Q8WV70;Q8WY75;Q9H6Q8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005856 cytoskeleton;GO:0005929 cilium;GO:0060091 kinocilium;GO:0032420 stereocilium", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96FG2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04609-1", "uniprot_id": [ { "id": "FOLH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04609", "type": "external" } ], "mass": 84331.0, "length": 750, "protein_name": "Glutamate carboxypeptidase 2", "gene_name": "FOLH1", "organism": "Human", "refseq_name": "glutamate carboxypeptidase 2 isoform 2", "refseq_ac": [ { "id": "NP_001014986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014986", "type": "external" } ], "gene_names_uniprotkb": "FOLH1; FOLH; GIG27; NAALAD1; PSMA; PSM", "gene_names_refseq": "FGCP; FOLH1; FOLH; GCP2; GCPII; NAALAD1; PSMA; PSM; mGCP", "protein_names_uniprotkb": "Glutamate carboxypeptidase 2; 3.4.17.21; Cell growth-inhibiting gene 27 protein; FGCP; Folate hydrolase 1; Folylpoly-gamma-glutamate carboxypeptidase; GCPII; Glutamate carboxypeptidase II; Membrane glutamate carboxypeptidase; N-acetylated-alpha-linked acidic dipeptidase I; NAALADase I; PSMA; PSM; Prostate-specific membrane antigen; Pteroylpoly-gamma-glutamate carboxypeptidase; mGCP", "protein_names_refseq": "N-acetylated alpha-linked acidic dipeptidase 1; N-acetylated-alpha-linked acidic dipeptidase I; NAALADase I; cell growth-inhibiting gene 27 protein; folylpoly-gamma-glutamate carboxypeptidase; glutamate carboxylase II; glutamate carboxypeptidase 2 isoform 2; glutamate carboxypeptidase 2; glutamate carboxypeptidase II; membrane glutamate carboxypeptidase; pteroylpoly-gamma-glutamate carboxypeptidase", "tax_id": 9606, "disease": "cerebral infarction (Disease Ontology:DOID:3526); abdominal aortic aneurysm (Disease Ontology:DOID:7693)", "pathway": " (hsa:2346); (R-HSA-8963693)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10.1101/2023.09.13.557529;10085079;10369257;10628836;10642534;11092759;11237011;11566871;12384542;12602510;12754519;12841872;12960111;14716746;15152093;15289844;15378520;15837926;16203785;16467855;16482569;16555021;16669630;16959974;17027983;17150306;17194761;17372356;17440952;17567119;17929272;17938645;18158780;18234225;19053759;19107881;19301871;19641205;19678840;19807691;20128819;20708999;21604260;21874303;21932426;22304711;22310383;2241899;22718265;22729556;23038267;23266799;24155240;24657844;24992895;25505266;2564390;25645385;27045997;27703488;27891225;28416261;28622427;28904123;29372909;29557506;29844168;29938870;31154438;31217245;31324691;31844290;32157095;32236612;32582212;32983136;33437477;33612342;34185709;34249152;34662441;35051231;35580925;36010968;36284347;36499557;37074911;38321782;38664014;40112979;4052435;7882349;8417812;8545283;8977634;9187245;9568678;9622670;9650914;9694964;9809977;9822272;9838072;9882712", "class_list": "", "function": "Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC., [UniProtKB]; Expression of PSMA in Tumor-Associated Vasculature Predicts Poorer Survival in Patients With Hepatocellular Carcinoma and Is Likely Associated With PD-L1., [RefSeq, PubMed]; Frequent Amplification and Overexpression of PSMA in Basallike Breast Cancer from Analysis of The Cancer Genome Atlas. Publication Status: Online-Only, [RefSeq, PubMed]; Has both folate hydrolase and N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Has a preference for tri-alpha-glutamate peptides. In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N-aceylaspartylglutamate (NAAG), thereby releasing glutamate. Involved in prostate tumor progression., [UniProtKB]; PSM' protein is likely not generated by alternative splicing of the PSMA gene but by different mechanism, probably via an endoproteolytic cleavage of the full-length PSMA., [RefSeq, PubMed]; Structure and relevance to the development of chemotherapeutics and cancer-imaging agents., [RefSeq, PubMed]; This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [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": 6, "mined_n_glycosites": 6, "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": 7, "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": 2, "reported_phosphosites": 1, "reported_mutagensis": 29, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 43, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A4UU12;A9CB79;B7Z312;B7Z343;D3DQS5;E9PDX8;O43748;Q16305;Q541A4;Q8TAY3;Q9NP15;Q9NYE2;Q9P1P8", "ec_number_list": [ { "id": "3.4.17.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.21", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:1904492 Ac-Asp-Glu binding;GO:1904493 tetrahydrofolyl-poly(glutamate) polymer binding;GO:0046872 metal ion binding;GO:0004180 carboxypeptidase activity;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0098829 intestinal folate absorption;GO:0006508 proteolysis;GO:0006537 glutamate biosynthetic process;GO:1900451 positive regulation of glutamate receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q04609-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62873-1", "uniprot_id": [ { "id": "GBB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P62873", "type": "external" } ], "mass": 37377.0, "length": 340, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1", "gene_name": "GNB1", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 2", "refseq_ac": [ { "id": "NP_001269467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269467", "type": "external" } ], "gene_names_uniprotkb": "GNB1", "gene_names_refseq": "GNB1; HG2A; MDS; MRD42", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1; Transducin beta chain 1", "protein_names_refseq": "beta subunit, signal-transducing proteins GS/GI; guanine nucleotide binding protein (G protein), beta polypeptide 1; guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 isoform 2; guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1; heterotrimeric guanine nucleotide-binding protein 2A; testicular tissue protein Li 72; transducin beta chain 1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); autosomal dominant intellectual developmental disorder 42 (Disease Ontology:DOID:0070072); congestive heart failure (Disease Ontology:DOID:6000); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:2782); (R-HSA-1296041); (R-HSA-163359); (R-HSA-202040); (R-HSA-2485179); (R-HSA-2514859); (R-HSA-381676); (R-HSA-381753); (R-HSA-381771); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9717207); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 35, "publication_count": 726, "publication_id_list": "10037746;10051575;10191087;10215864;10318832;10319328;10322410;10376603;10380924;10391246;10391247;10395542;10427092;10449730;10460249;10488343;10496952;10564809;10567430;10588714;10634944;10639123;10649434;10676965;10698200;10714768;10727532;10749889;10759852;10761935;10764742;10777564;10806474;10858654;10861009;10948191;10954748;11007482;11015615;11029009;11029403;11030334;11034202;11043579;11044445;11060443;11071853;11076974;11185956;11196645;11237011;11283606;11292825;11294240;11313909;11313914;11369763;11563835;11564718;11601986;11687658;11689445;11698416;11713293;11742120;11753430;11754336;11773440;11773442;11773443;11786497;11825873;11853546;11917125;11946536;11968001;11978683;11981029;12015605;12015988;12034449;12036349;12036966;12048194;12058044;12086864;12101119;12106601;12119397;12120503;12123608;12167717;12176338;12180353;12180908;12194985;12388769;12401793;12410638;12421825;12431978;12432397;12433842;12446735;12467591;12467592;12471263;12475787;12482967;12496249;12499365;12507995;12511868;12515866;12540594;12556497;12560222;12588983;12651102;12682286;12724311;12729560;12801959;12808053;12810581;12825937;12860470;12881510;12887923;12938160;12975316;1325650;1325798;1333056;1347957;13549488;1356371;13680124;1373524;1378832;1379636;1387789;1436039;14512443;14514350;14514735;14573771;14592814;14634208;14671004;14675202;14701836;14702087;14704854;14719035;14719797;14742685;14764897;14977528;14988243;1499644;15033483;15044318;15090535;1510932;15126524;1517224;15231873;15245432;15304325;15314172;1534149;15353592;15385606;15464082;15467163;15471943;15494017;15496458;15539556;15545263;15569269;15569929;15584901;15598656;15611108;15619630;15657067;15699075;15703994;15705661;15705806;15718470;15738140;15749160;15765929;15769620;15889144;15946941;15951850;15955806;15956360;15980156;15995848;16102047;16120822;1614872;16182515;16212421;16212495;16219666;16239258;16268778;16274222;16274718;16313925;16339447;16352729;16371464;16373322;16407073;16407156;16415903;16418336;1645720;16460020;16460277;16580177;16613879;16634148;16636149;16645038;16687412;16702223;16717095;1672265;16728727;16754659;16780920;16835357;16880514;16892066;16895762;16908407;16920709;16923326;16973695;17037979;17065399;17095603;17114291;17156409;17167479;17168849;17178220;17185339;1720239;1722240;17306374;17379646;1739432;17424910;17426020;17444618;17506496;17525128;17535799;17545310;17601748;17636946;17681422;17684012;17873857;17900700;17916740;17921256;17973576;18044684;18162464;18202100;18202181;18206197;1825698;18287102;18374420;18412318;18434541;18456304;18488142;1849000;18511455;1851174;18515384;18519800;18566127;18577758;18611381;18657504;18678926;18710921;18803695;18936096;18991276;19001044;19020623;1905813;19104071;19105585;19138696;19144687;19170255;19177143;19212140;19255495;19258039;19342380;19342448;19376773;19383790;1939224;19474308;19536106;19574955;19581598;19696921;19713215;19715408;19723632;19741198;19818506;19851316;19859570;19861722;19876791;19879889;19929708;19931550;1999465;20007474;20022913;20033988;20068231;20381629;20430952;20439495;20453851;20650261;20655490;20670195;20850105;20861220;20975703;21036126;21118996;21172430;21422378;2155175;2161380;2163110;21680538;21795555;21844907;21851428;21903638;22028449;22031296;22223895;22266855;22299025;22446104;22480736;22495674;22617051;22658984;22661716;22869377;22941947;23151663;23186163;23256519;23416699;23481700;23632248;23632330;23637185;23863937;23904219;24039841;24157691;2417744;24214976;2422346;24273487;24316890;24360415;24530924;2457685;24633359;2467600;24687066;24714562;24715725;2473195;2474350;2491850;24962572;2534964;2540796;25414122;25418920;25485910;25502872;2550422;25505266;2553411;2553705;25576301;2558719;25587652;25645385;25659125;25675501;25784876;2578616;25853419;25977809;26024233;26154972;26190834;26308095;26373539;26377607;26417854;26590425;26768311;26987903;27072905;27108799;27288742;27392633;27452731;2748346;27566546;27600516;27668284;27797339;27916747;27916748;27920218;28087732;28218747;28228285;28256214;2826231;2834384;2835761;2837463;2841328;28450397;28467828;28502923;28514659;28539435;28595943;28656349;2871555;28832583;28904123;29174093;29235485;29242379;29314611;29351928;29437277;29443750;29466837;29508533;29557506;29602314;29632711;29659026;29738483;29744740;2991279;29925951;30007591;30013099;3006923;30194818;30315122;30429286;30484775;3049610;30524438;30563861;30779550;30828317;30833991;3086311;3095147;31040214;3104109;31205027;31222486;3127824;31279028;31399091;3141418;31530632;3164688;31844290;31983287;31998317;32157095;32161166;32226383;32296767;32350084;32357974;32387766;32488085;32497535;32502341;32540603;32618402;32639031;32715661;32938616;32983136;33043033;33049737;33298915;33592498;33762731;33828102;33936100;33968037;33981976;34019948;34078123;34171305;34229054;34239069;34357683;34405274;34433824;34453129;34499618;34509645;34561969;35027551;35051231;35061538;35154160;35251023;35418677;35418678;35418679;35418682;35501348;35580925;35604143;35610220;35714614;35835867;35982227;36010968;36087581;36171289;36241641;36989299;37327704;37453880;37935376;37935377;37963465;37991948;38168118;3841689;38552625;38596856;38600377;38665916;38776963;3899557;3900195;39103320;3933561;39833471;40596516;4065330;40914422;4359491;4361997;4366891;4772407;6085243;6192430;6264430;6745415;6930647;7503232;7510718;7512962;7514139;7525588;7526388;7526403;7526779;7532011;7535000;7538665;7559455;7567982;7568118;7589426;7589461;7595566;7624799;7641683;7644482;7651538;7670478;7678419;7678445;7680413;7682292;7700244;7720699;7750475;7777544;7811244;7876172;7883856;7902709;7937899;7983048;8007951;8015379;8063828;8073283;8099279;8100523;8138058;8140421;8144028;8208289;8277227;8288584;8290554;8340388;8382952;8390245;8404634;8405712;8406495;8494894;8500562;8514797;8521505;8522976;8527267;8554519;8598224;8617235;8621513;8626439;8662784;8664309;8672451;8673138;8683474;8700127;8702633;8706659;8733591;8778232;8782602;8798518;8812493;8816443;8830891;8855281;8876252;8910365;8913594;8982657;8997178;9065781;9073455;9087410;9119368;9152406;9153422;9173876;9227644;9263355;9305846;9308960;9353336;9369468;9374639;9374640;9389482;9395517;9417641;9430683;9459445;9478004;9488697;9506952;9544801;9565625;9616126;9618465;9620797;9651336;9707174;9756892;9760042;9770463;9796816;9829975;9920805;9924018;9990065", "class_list": "glycogene", "function": "Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy., [RefSeq, PubMed]; G Protein Subunit beta1 Facilitates Influenza A Virus Replication by Promoting the Nuclear Import of PB2. Erratum:[J Virol. 2023 Jun 29;97(6):e0054623. doi: 10.1128/jvi.00546-23. PMID: 37278529], [RefSeq, PubMed]; GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. 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": 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": 333, "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": "B1AJZ7;P04697;P04901;Q1RMY8", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0044877 protein-containing complex binding;GO:0051020 GTPase binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0071380 cellular response to prostaglandin E stimulus;GO:0071870 cellular response to catecholamine stimulus", "synthesized_glycan_count": 0, "hit_score": 73.0, "record_id": "P62873-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AY3-1", "uniprot_id": [ { "id": "FKB10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AY3", "type": "external" } ], "mass": 64245.0, "length": 582, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP10", "gene_name": "FKBP10", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP10 precursor", "refseq_ac": [ { "id": "NP_068758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068758", "type": "external" } ], "gene_names_uniprotkb": "FKBP10; FKBP65; PSEC0056", "gene_names_refseq": "BRKS1; BRKS; FKBP10; FKBP65; OI11; OI6; PPIASE; TLH1; hFKBP65", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP10; 5.2.1.8; 65 kDa FK506-binding protein; 65 kDa FKBP; FK506-binding protein 10; FKBP-10; FKBP-65; Immunophilin FKBP65; PPIase FKBP10; Rotamase", "protein_names_refseq": "65 kDa FK506-binding protein; 65 kDa FKBP; FK506 binding protein 10, 65 kDa; FK506-binding protein 10; FKBP-10; FKBP-65; PPIase FKBP10; Telopeptide lysyl hydroxylase, bone-specific; immunophilin FKBP65; osteognesis imperfecta with congenital joint contractures; peptidyl-prolyl cis-trans isomerase FKBP10 precursor; peptidyl-prolyl cis-trans isomerase FKBP10; rotamase", "tax_id": 9606, "disease": "Bruck syndrome (Disease Ontology:DOID:0060231); osteogenesis imperfecta type 11 (Disease Ontology:DOID:0110351)", "pathway": " (hsa:60681)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;11237011;12754519;16303743;19159218;20362275;20839288;22661428;22949511;23090970;24190977;25576301;26154972;26992070;27846572;28834231;29393594;29557506;29741879;29786170;30429286;30484775;30833945;31154438;31844290;31848261;32119511;32157095;32161166;32870666;32938616;33214551;33592498;34019948;34089345;34171305;34725712;35051231;35138101;35278031;35289036;35580925;36010968;36215666;36241641;36284347;36463181;36655627;37074911;37422836;37938771;38665916;38927610;39531497;39534244", "class_list": "", "function": "Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum., [RefSeq, PubMed]; Clinical features and molecular characterization of Chinese patients with FKBP10 variants., [RefSeq, PubMed]; High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation In Fkbp10 Gene Cause Bruck Syndrome 1 (Brks1) In A Pakistani Family Of Pashtun Origin., [RefSeq, PubMed]; PPIases accelerate the folding of proteins during protein synthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Presentation of Rare Phenotypes Associated with the FKBP10 Gene. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[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": 7, "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": 7, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "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": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 53, "disease_count": 2, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z3R4;Q9H3N3;Q9H6J3;Q9H6N5;Q9UF89", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005528 FK506 binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005758 mitochondrial intermembrane space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q96AY3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N883-1", "uniprot_id": [ { "id": "ZN614_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N883", "type": "external" } ], "mass": 67215.0, "length": 585, "protein_name": "Zinc finger protein 614", "gene_name": "ZNF614", "organism": "Human", "refseq_name": "zinc finger protein 614", "refseq_ac": [ { "id": "NP_079316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079316", "type": "external" } ], "gene_names_uniprotkb": "ZNF614", "gene_names_refseq": "ZNF614", "protein_names_uniprotkb": "Zinc finger protein 614", "protein_names_refseq": "zinc finger protein 614", "tax_id": 9606, "disease": "", "pathway": " (hsa:80110); (R-HSA-212436)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25880248;27600516;28832583;29242379;29508533;30315122;30429286;31154438;31222486;31844290;31848261;32157095;32357974;32983136;33912179;34932366;35051231;35318648;35580925;36284347;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q494T8;Q8TCF4;Q9BSN8", "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": "Q8N883-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70CQ1-1", "uniprot_id": [ { "id": "UBP49_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70CQ1", "type": "external" } ], "mass": 79198.0, "length": 688, "protein_name": "Ubiquitin carboxyl-terminal hydrolase 49", "gene_name": "USP49", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase 49 isoform a", "refseq_ac": [ { "id": "NP_001273483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273483", "type": "external" } ], "gene_names_uniprotkb": "USP49", "gene_names_refseq": "USP49", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase 49; 3.4.19.12; Deubiquitinating enzyme 49; Ubiquitin thioesterase 49; Ubiquitin-specific-processing protease 49", "protein_names_refseq": "deubiquitinating enzyme 49; ubiquitin carboxyl-terminal hydrolase 49 isoform a; ubiquitin carboxyl-terminal hydrolase 49; ubiquitin specific protease 49; ubiquitin thioesterase 49; ubiquitin thiolesterase 49; ubiquitin-specific-processing protease 49", "tax_id": 9606, "disease": "", "pathway": " (hsa:25862); (R-HSA-5689880)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10444327;10982817;11237011;11566882;11923872;12917689;12917691;14661020;14715245;15053880;15916963;16214042;16901786;16964248;17290220;17443180;17873522;17980597;17981138;18172164;18467330;18632802;18636086;19015242;19135894;19188362;19363159;19398555;19424180;19838211;19874889;19910467;20096447;20228808;20368735;20501646;21239494;21362556;21571647;21596315;21659512;21849505;21962518;22029577;22085928;22128162;22216260;23159851;23395819;23486064;23824326;23825189;24056413;24260525;24493797;24714562;24896179;25197364;25305019;25578727;25880248;26375851;26992070;27846572;27920218;28363942;28832583;28834231;28904123;29393594;29508533;30315122;30410026;30429286;30943264;31397674;31844290;32357974;32897882;33717175;35273362;35318441;35367823;35598681;36702832;7578059", "class_list": "", "function": "C-MYC-USP49-BAG2 axis promotes proliferation and chemoresistance of colorectal cancer cells in vitro., [RefSeq, PubMed]; Deubiquitinase that plays a role in several cellular processes including transcriptional regulation, cell cycle progression or innate immunity. Specifically deubiquitinates histone H2B at 'Lys-120' (H2BK120Ub), a specific tag for epigenetic transcriptional activation and acts as a regulator of mRNA splicing (PubMed:23824326). Antagonizes DNA double-strand break-induced ubiquitination of H2AX thereby participating in the maintenance of genome integrity (PubMed:35598681). Plays a role in the negative regulation of cell proliferation through the AKT pathway by deubiquitinating FKBP51, leading to enhanced AKT1 dephosphorylation by PHLPP1 (PubMed:28363942). Also regulates the mitotic spindle checkpoint and prevents aneuploidy (PubMed:36702832). Negatively regulates cellular antiviral responses via deconjugating 'Lys-63'-linked ubiquitination of STING1 (PubMed:30943264). Significantly enhances the anti-HIV-1 activity of APOBEC3G. Mechanistically, stabilizes APOBEC3G by counteracting HIV-1 Vif-mediated APOBEC3G ubiquitination (PubMed:31397674)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Genome-wide screening for deubiquitinase subfamily identifies ubiquitin-specific protease 49 as a novel regulator of odontogenesis., [RefSeq, PubMed]; USP49 is a novel deubiquitylating enzyme for gamma H2AX in DNA double-strand break repair., [RefSeq, PubMed]; USP49 mediates tumor progression and poor prognosis through a YAP1-dependent feedback loop in gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "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": "Q5T3D9;Q5T3E0;Q96CK4", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0004197 cysteine-type endopeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:0140936 histone H2B deubiquitinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005634 nucleus", "go_biological_process": "GO:0006508 proteolysis;GO:0016579 protein deubiquitination;GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q70CQ1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5CZC0-1", "uniprot_id": [ { "id": "FSIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5CZC0", "type": "external" } ], "mass": 780607.0, "length": 6907, "protein_name": "Fibrous sheath-interacting protein 2", "gene_name": "FSIP2", "organism": "Human", "refseq_name": "fibrous sheath-interacting protein 2", "refseq_ac": [ { "id": "NP_775922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775922", "type": "external" } ], "gene_names_uniprotkb": "FSIP2", "gene_names_refseq": "FSIP2; SPGF34", "protein_names_uniprotkb": "Fibrous sheath-interacting protein 2", "protein_names_refseq": "fibrous sheath-interacting protein 2", "tax_id": 9606, "disease": "spermatogenic failure 34 (Disease Ontology:DOID:0111911)", "pathway": " (hsa:401024)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;20877624;23345538;23481700;24715725;25645385;25892735;26477546;28832583;28904123;29242379;29393594;29557506;29789417;30137358;30192525;30379171;30620550;30745215;31092671;31217245;31844290;32357974;32387766;32502341;32938616;32983136;33141586;33162809;33592498;33631238;33633747;33968037;33981976;34105348;34171305;35051231;35654582;36241641", "class_list": "", "function": "FSIP2 can serve as a predictive biomarker for Clear Cell Renal Cell Carcinoma prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; FSIP2 plays a role in the acrosome development during spermiogenesis., [RefSeq, PubMed]; Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia, [RefSeq, PubMed]; Novel mutations in FSIP2 lead to multiple morphological abnormalities of the sperm flagella and poor ICSI prognosis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in spermatogenesis., [UniProtKB, PubMed]; This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 144, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q53TL3;Q53TN5;Q5HYH2;Q6ZTZ5;Q6ZU14;Q6ZU21", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097229 sperm end piece;GO:0097228 sperm principal piece;GO:0097225 sperm midpiece;GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0061512 protein localization to cilium;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q5CZC0-1", "record_type": "protein", "filter_code": "0000000.1000111.000010.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z614-1", "uniprot_id": [ { "id": "SNX20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z614", "type": "external" } ], "mass": 36178.0, "length": 316, "protein_name": "Sorting nexin-20", "gene_name": "SNX20", "organism": "Human", "refseq_name": "sorting nexin-20 isoform 3", "refseq_ac": [ { "id": "NP_001138444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138444", "type": "external" } ], "gene_names_uniprotkb": "SNX20; SLIC1", "gene_names_refseq": "SLIC1; SNX20", "protein_names_uniprotkb": "Sorting nexin-20; SLIC-1; Selectin ligand-interactor cytoplasmic 1", "protein_names_refseq": "selectin ligand-interactor cytoplasmic 1; sorting nexin-20 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:124460)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "18196517;23783831;25802875;26280087;26375851;26992070;27846572;27920218;28063628;28228285;28649982;28832583;28904123;29242379;29393594;29557506;29632046;29632711;29786170;30379171;31154438;31844290;31848261;32157095;32387766;32502341;32983136;33141586;33298915;33633747;33936100;34509645;34743576;35051231;35318648;35580925;35771139;36284347", "class_list": "", "function": "DNA methylation-regulated SNX20 overexpression correlates with poor prognosis, immune cell infiltration, and low-grade glioma progression., [RefSeq, PubMed]; Identification of molecular subtyping system and four-gene prognostic signature with immune-related genes for uveal melanoma., [RefSeq, PubMed]; May play a role in cellular vesicle trafficking. Has been proposed to function as a sorting protein that targets SELPLG into endosomes, but has no effect on SELPLG internalization from the cell surface, or on SELPLG-mediated cell-cell adhesion., [UniProtKB, PubMed]; SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010]., [RefSeq]; Serves as a sorting molecule that cycles P-selectin ligand protein into endosomes with no impact on leukocyte recruitment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "A8K9D5;Q08E98;Q6P4H2;Q8IV59", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q7Z614-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZE3-1", "uniprot_id": [ { "id": "PACE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZE3", "type": "external" } ], "mass": 82857.0, "length": 742, "protein_name": "Protein-associating with the carboxyl-terminal domain of ezrin", "gene_name": "SCYL3", "organism": "Human", "refseq_name": "protein-associating with the carboxyl-terminal domain of ezrin isoform 1", "refseq_ac": [ { "id": "NP_065156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065156", "type": "external" } ], "gene_names_uniprotkb": "SCYL3; PACE1", "gene_names_refseq": "PACE-1; PACE1; SCYL3", "protein_names_uniprotkb": "Protein-associating with the carboxyl-terminal domain of ezrin; Ezrin-binding protein PACE-1; SCY1-like protein 3", "protein_names_refseq": "SCY1-like 3; SCY1-like protein 3; SCY1-like, kinase-like 3; ezrin-binding partner PACE-1 (PACE-1); ezrin-binding protein PACE-1; protein-associating with the carboxyl-terminal domain of ezrin isoform 1; protein-associating with the carboxyl-terminal domain of ezrin", "tax_id": 9606, "disease": "", "pathway": " (hsa:57147)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;12651155;22424782;22564745;23186163;23481700;24715725;25576301;25645385;26992070;27846572;27920218;28904123;29242379;29557506;30315122;31530632;31844290;31937595;32157095;32350084;32357974;32387766;32502341;32897882;32938616;33298915;33912179;33968037;34357683;34509645;34932366;35051231;35561310;36010968", "class_list": "", "function": "May play a role in regulating cell adhesion/migration complexes in migrating cells., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8Z2;Q5THA6;Q5THA8;Q8IZN9;Q96C56;Q9UBK6", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030027 lamellipodium", "go_biological_process": "GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8IZE3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGN5-1", "uniprot_id": [ { "id": "PARP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGN5", "type": "external" } ], "mass": 66206.0, "length": 583, "protein_name": "Poly [ADP-ribose] polymerase 2", "gene_name": "PARP2", "organism": "Human", "refseq_name": "poly [ADP-ribose] polymerase 2 isoform 2", "refseq_ac": [ { "id": "NP_001036083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036083", "type": "external" } ], "gene_names_uniprotkb": "PARP2; ADPRT2; ADPRTL2", "gene_names_refseq": "ADPRT2; ADPRTL2; ADPRTL3; ARTD2; PARP-2; PARP2; pADPRT-2", "protein_names_uniprotkb": "Poly [ADP-ribose] polymerase 2; 2.4.2.-; 2.4.2.30; ADP-ribosyltransferase diphtheria toxin-like 2; ADPRT-2; ARTD2; DNA ADP-ribosyltransferase PARP2; NAD(+) ADP-ribosyltransferase 2; PARP-2; Poly[ADP-ribose] synthase 2; Protein poly-ADP-ribosyltransferase PARP2; hPARP-2; pADPRT-2", "protein_names_refseq": "ADP-ribosyltransferase (NAD+; ADP-ribosyltransferase diphtheria toxin-like 2; ADPRT-2; DNA ADP-ribosyltransferase PARP2; NAD(+) ADP-ribosyltransferase 2; hPARP-2; poly (ADP-ribose) polymerase family, member 2; poly (ADP-ribosyl) transferase-like 2; poly [ADP-ribose] polymerase 2 isoform 2; poly(ADP-ribose) polymerase)-like 2; poly[ADP-ribose] synthase 2; poly[ADP-ribose] synthetase 2; protein poly-ADP-ribosyltransferase PARP2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10038); (R-HSA-110362); (R-HSA-5685939); (R-HSA-5696394); (R-HSA-5696395); (R-HSA-5696400)", "pathway_count": 6, "publication_count": 177, "publication_id_list": "10.1101/2023.09.13.557529;10329013;10338144;10364231;10391953;10526214;10734143;11007478;11141066;11237011;11278856;11279143;11340072;11440997;11511374;11554294;11948190;12080057;12200445;12727891;12732143;12815074;12944386;14517266;14742321;15135726;15193131;15220921;15561706;15590680;15607977;15731342;15811629;15882621;15964821;16012167;16030353;16223728;16278211;16473935;16491090;16678110;17000769;17466625;17466626;17548475;17882165;17948053;17991898;18079701;18614043;19056823;19109893;19279666;19329425;19357644;19609301;19651622;19661379;19664995;19713942;19778542;19940136;19941824;20068231;20092359;20106667;20227374;20368362;20483915;20573551;20647759;20855601;20876134;21135142;21183466;21282463;21388382;21398629;21406692;21816818;22081108;22118460;22433848;23038248;23045548;23319653;23352696;23481700;23751493;25043379;25154395;25201414;25418920;25538220;25576301;25642960;25642963;25643323;25789972;25880248;25892735;26042670;26151477;26154972;26626480;26704974;26992070;27067600;27471034;27920218;28190768;28218747;28411811;28514659;28832583;28834231;29133916;29242379;29361132;29393594;29437277;29493099;29632046;29769354;30104678;30315122;30321391;30524438;31217245;31844290;31848261;32028527;32157095;32387766;32897882;32938616;32939087;33141820;33275888;33298915;33592498;33717175;33968037;34087483;34108479;34486521;34561969;34616022;34732825;34795260;34874266;34932366;35051231;35349716;35561310;35580925;36010968;37216533;37326017;37351597;38029688;6278323;7559382;7700386;8003475;8168482;8264597;8663274;8692841;9130708;9214649;9685411;9699634;9716411;9771713;9804757", "class_list": "", "function": "PARP2 promotes inflammation in psoriasis by modulating estradiol biosynthesis in keratinocytes., [RefSeq, PubMed]; Poly-ADP-ribosyltransferase that mediates poly-ADP-ribosylation of proteins and plays a key role in DNA repair (PubMed:10364231, PubMed:25043379, PubMed:27471034, PubMed:30104678, PubMed:32028527, PubMed:32939087, PubMed:34108479, PubMed:34486521, PubMed:34874266). Mediates glutamate, aspartate or serine ADP-ribosylation of proteins: the ADP-D-ribosyl group of NAD(+) is transferred to the acceptor carboxyl group of target residues and further ADP-ribosyl groups are transferred to the 2'-position of the terminal adenosine moiety, building up a polymer with an average chain length of 20-30 units (PubMed:25043379, PubMed:30104678, PubMed:30321391). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:32939087). Mediates glutamate and aspartate ADP-ribosylation of target proteins in absence of HPF1 (PubMed:25043379). Following interaction with HPF1, catalyzes serine ADP-ribosylation of target proteins; HPF1 conferring serine specificity by completing the PARP2 active site (PubMed:28190768, PubMed:32028527, PubMed:34108479, PubMed:34486521, PubMed:34874266). PARP2 initiates the repair of double-strand DNA breaks: recognizes and binds DNA breaks within chromatin and recruits HPF1, licensing serine ADP-ribosylation of target proteins, such as histones, thereby promoting decompaction of chromatin and the recruitment of repair factors leading to the reparation of DNA strand breaks (PubMed:10364231, PubMed:32939087, PubMed:34108479). HPF1 initiates serine ADP-ribosylation but restricts the polymerase activity of PARP2 in order to limit the length of poly-ADP-ribose chains (PubMed:34732825, PubMed:34795260). Specifically mediates formation of branched poly-ADP-ribosylation (PubMed:30104678). Branched poly-ADP-ribose chains are specifically recognized by some factors, such as APLF (PubMed:30104678). In addition to proteins, also able to ADP-ribosylate DNA: preferentially acts on 5'-terminal phosphates at DNA strand breaks termini in nicked duplex (PubMed:27471034, PubMed:29361132)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulatory apoptotic fragment of PARP1 complements catalytic fragment for PAR and DNA-dependent activity but inhibits DNA-induced catalytic stimulation of PARP2., [RefSeq, PubMed]; Single-molecule force spectroscopy reveals binding and bridging dynamics of PARP1 and PARP2 at DNA double-strand breaks., [RefSeq, PubMed]; The CSB chromatin remodeler regulates PARP1- and PARP2-mediated single-strand break repair at actively transcribed DNA regions., [RefSeq, PubMed]; This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [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": 4, "reported_mutagensis": 22, "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": "Q8TEU4;Q9NUV2;Q9UMR4;Q9Y6C8", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.2.1.143", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.143", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" } ], "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0072572 poly-ADP-D-ribose binding;GO:0003682 chromatin binding;GO:0003684 damaged DNA binding;GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0090734 site of DNA damage", "go_biological_process": "GO:0070213 protein auto-ADP-ribosylation;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0006302 double-strand break repair;GO:0046697 decidualization", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q9UGN5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N878-1", "uniprot_id": [ { "id": "FRMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N878", "type": "external" } ], "mass": 62523.0, "length": 549, "protein_name": "FERM domain-containing protein 1", "gene_name": "FRMD1", "organism": "Human", "refseq_name": "FERM domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001116313", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116313", "type": "external" } ], "gene_names_uniprotkb": "FRMD1", "gene_names_refseq": "FRMD1; bA164L23.1", "protein_names_uniprotkb": "FERM domain-containing protein 1", "protein_names_refseq": "FERM domain-containing protein 1 isoform 2; FERM domain-containing protein 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:79981)", "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": 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": "B2RNV8;B3KUM6;Q5SZU7;Q9UFB0", "ec_number_list": [], "go_molecular_function": "GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:0035332 positive regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N878-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43427-1", "uniprot_id": [ { "id": "FIBP_HUMAN", "url": "https://www.uniprot.org/uniprot/O43427", "type": "external" } ], "mass": 41878.0, "length": 364, "protein_name": "Acidic fibroblast growth factor intracellular-binding protein", "gene_name": "FIBP", "organism": "Human", "refseq_name": "acidic fibroblast growth factor intracellular-binding protein isoform b", "refseq_ac": [ { "id": "NP_004205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004205", "type": "external" } ], "gene_names_uniprotkb": "FIBP", "gene_names_refseq": "FGFIBP; FIBP-1; FIBP; TROFAS", "protein_names_uniprotkb": "Acidic fibroblast growth factor intracellular-binding protein; FGF-1 intracellular-binding protein; aFGF intracellular-binding protein", "protein_names_refseq": "aFGF intracellular-binding protein; acidic fibroblast growth factor intracellular-binding protein isoform b; acidic fibroblast growth factor intracellular-binding protein", "tax_id": 9606, "disease": "Fanconi-Bickel syndrome (Disease Ontology:DOID:0070562); glycogen storage disease (Disease Ontology:DOID:2747); insulinoma (Disease Ontology:DOID:3892); gastrinoma (Disease Ontology:DOID:5577); type 2 diabetes mellitus (Disease Ontology:DOID:9352); tall stature-intellectual disability-renal anomalies syndrome (MONDO:MONDO:0014918)", "pathway": " (hsa:9158)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11104667;11237011;11964394;17497037;19615748;22424782;23481700;25505266;25576301;25645385;25880248;26154972;26660953;26992070;27183861;27600516;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29786170;30315122;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33717175;33912179;33968037;33981976;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37564211;37876348;9806903", "class_list": "", "function": "Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Data Show aFGF was expressed in regenerative hepatocytes, but not in fibroblasts, suggesting its role in promoting oxidative stress produced by hepatocytes may contribute to the development of fibrous bands in hepatic cirrhosis., [RefSeq, PubMed]; FIBP interacts with transcription factor STAT3 to induce EME1 expression and drive radioresistance in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity)., [UniProtKB, PubMed, UniProtKB]; New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant., [RefSeq, PubMed]; These findings provide convincing evidence implicating FIBP aberrations in the newly recognized overgrowth syndrome and expand the associated phenotypes to include possible Wilms tumor predisposition. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K0J7;Q27Q85;Q6IBQ3;Q9HD65", "ec_number_list": [], "go_molecular_function": "GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0012505 endomembrane system", "go_biological_process": "GO:0070527 platelet aggregation;GO:0008543 fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O43427-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYI3-1", "uniprot_id": [ { "id": "HYCCI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYI3", "type": "external" } ], "mass": 57625.0, "length": 521, "protein_name": "Hyccin", "gene_name": "HYCC1", "organism": "Human", "refseq_name": "hyccin isoform 1", "refseq_ac": [ { "id": "NP_115970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115970", "type": "external" } ], "gene_names_uniprotkb": "HYCC1; DRCTNNB1A; FAM126A", "gene_names_refseq": "DRCTNNB1A; FAM126A; HCC; HLD5; HYCC1", "protein_names_uniprotkb": "Hyccin; Down-regulated by CTNNB1 protein A", "protein_names_refseq": "down regulated by Ctnnb1, a; down-regulated by CTNNB1 protein A; family with sequence similarity 126 member A; hyccin isoform 1; hyccin", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 5 (Disease Ontology:DOID:0060793)", "pathway": " (hsa:84668)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "10910037;11237011;16951682;17928815;18220336;18691976;21911699;22645359;23186163;23481700;23998934;24366607;24714562;25418920;25576301;25645385;26024233;26090577;26154972;26375851;26571211;26728094;26811146;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28887846;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;30103315;30315122;30379171;30410026;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;34171305;34509645;34561969;35051231;35251023;35318648;35397054;35580925;36010968;36241641;37938771", "class_list": "", "function": "A large intragenic deletion of DRCTNNB1A does not lead to congenital cataract in all of the patients in an afflicted family., [RefSeq, PubMed]; CirRNA circFAM126A Exerts Oncogenic Functions in NSCLC to Upregulate IRS2., [RefSeq, PubMed]; Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). HYCC1 plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:16951682, PubMed:26571211). May also have a role in the beta-catenin/Lef signaling pathway (Probable)., [UniProtKB, PubMed, PubMed, PubMed]; Downregulation of Drosophila TTC7 and Hyccin also reduces neuronal Abeta accumulation and associated synaptic and motor defects as well as premature death in Abeta42-expressing flies, while overexpression of TTC7 and Hyccin produced the opposite effect., [RefSeq, PubMed]; Mutation of this gene results in defective myelination of both the central and peripheral nervous system., [RefSeq, PubMed]; The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A024RA06;A4D145;B8ZZJ1;Q6N010;Q75MR4;Q7LDZ4;Q96MX1;Q96NQ6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0042552 myelination;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9BYI3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZTR7-1", "uniprot_id": [ { "id": "CBAR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZTR7", "type": "external" } ], "mass": 34785.0, "length": 304, "protein_name": "CBY1-interacting BAR domain-containing protein 2", "gene_name": "CIBAR2", "organism": "Human", "refseq_name": "CBY1-interacting BAR domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_940893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940893", "type": "external" } ], "gene_names_uniprotkb": "CIBAR2; FAM92B", "gene_names_refseq": "CIBAR2; FAM92B", "protein_names_uniprotkb": "CBY1-interacting BAR domain-containing protein 2; Protein FAM92B", "protein_names_refseq": "CBY1-interacting BAR domain-containing protein 2 isoform 1; CBY1-interacting BAR domain-containing protein 2; family with sequence similarity 92 member B; protein FAM92B", "tax_id": 9606, "disease": "", "pathway": " (hsa:339145)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18580884;19262523;21472827;27528616;30379171;35254053", "class_list": "", "function": "FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association studies-reported associations between the NELL1, NCF4, and FAM92B genes and susceptibility to Crohn's disease could not be replicated in Canadian children and young adults., [RefSeq, PubMed]; May play a role in ciliogenesis (By similarity). In cooperation with CBY1 may facilitate ciliogenesis likely by the recruitment and fusion of endosomal vesicles at distal appendages during early stages of ciliogenesis (PubMed:27528616)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 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": "A0A0D9SG36;A0A1X7SC74", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005814 centriole;GO:0036064 ciliary basal body;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6ZTR7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y79-1", "uniprot_id": [ { "id": "PTH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y79", "type": "external" } ], "mass": 22937.0, "length": 214, "protein_name": "Peptidyl-tRNA hydrolase", "gene_name": "PTRH1", "organism": "Human", "refseq_name": "peptidyl-tRNA hydrolase isoform 1", "refseq_ac": [ { "id": "NP_001002913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002913", "type": "external" } ], "gene_names_uniprotkb": "PTRH1; C9orf115", "gene_names_refseq": "C9orf115; PTH1; PTRH1", "protein_names_uniprotkb": "Peptidyl-tRNA hydrolase; 3.1.1.29; PTH", "protein_names_refseq": "PTH; peptidyl-tRNA hydrolase isoform 1; probable peptidyl-tRNA hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:138428)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;14660562;26811146;28218747;28904123;29393594;29437277;29493099;29632046;30244831;31844290;32938616;33968037;35580925;39894887", "class_list": "", "function": "Arrangement of secondary structure elements generates a fold not previously reported for peptidyl-trna hydrolase and intermolecular contacts in the crystal asymmetric unit cell suggest a likely surface for protein-protein interactions, [RefSeq, PubMed]; Peptidyl-tRNA hydrolase that cleaves nascent chains-tRNAs that are not stably fixed in the P-site of 60S ribosome-nascent chain complexes (PubMed:30244831). Acts downstream of the ribosome-associated quality control (RQC) pathway to release non-ubiquitinated nascent chains from 60S and 80S ribosome-nascent chain complexes (PubMed:30244831). Does not act on ubiquitinated nascent chains, which are cleaved by ANKZF1 for degradation (PubMed:30244831)., [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": 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": "", "ec_number_list": [ { "id": "3.1.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.29", "type": "external" } ], "go_molecular_function": "GO:0004045 peptidyl-tRNA hydrolase activity;GO:0003723 RNA binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0072344 rescue of stalled ribosome", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q86Y79-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49326-1", "uniprot_id": [ { "id": "FMO5_HUMAN", "url": "https://www.uniprot.org/uniprot/P49326", "type": "external" } ], "mass": 60221.0, "length": 533, "protein_name": "Flavin-containing monooxygenase 5", "gene_name": "FMO5", "organism": "Human", "refseq_name": "flavin-containing monooxygenase 5 isoform 2", "refseq_ac": [ { "id": "NP_001138301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138301", "type": "external" } ], "gene_names_uniprotkb": "FMO5", "gene_names_refseq": "FMO5; hBVMO1", "protein_names_uniprotkb": "Flavin-containing monooxygenase 5; 1.14.13.-; 1.14.13.8; 1.6.3.1; Baeyer-Villiger monooxygenase 1; Dimethylaniline monooxygenase [N-oxide-forming] 5; Dimethylaniline oxidase 5; FMO 5; NADPH oxidase; hBVMO1", "protein_names_refseq": "FMO 5; NADPH oxidase; NAPDH oxidase; baeyer-Villiger monooxygenase 1; dimethylaniline monooxygenase [N-oxide-forming] 5; dimethylaniline oxidase 5; flavin containing monooxygenase 5; flavin-containing monooxygenase 5 isoform 2; hepatic flavin-containing monooxygenase 5", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); chromosome 1q21.1 deletion syndrome (Disease Ontology:DOID:0060411); B-lymphoblastic leukemia/lymphoma (Disease Ontology:DOID:0080630); growth hormone insensitivity syndrome with immune dysregulation 1 (Disease Ontology:DOID:0080836); castration-resistant prostate carcinoma (Disease Ontology:DOID:0080909); prostate cancer (Disease Ontology:DOID:10283); colon adenocarcinoma (Disease Ontology:DOID:234); glioblastoma (Disease Ontology:DOID:3068); invasive lobular carcinoma (Disease Ontology:DOID:3457); gastric adenocarcinoma (Disease Ontology:DOID:3717); chronic myeloid leukemia (Disease Ontology:DOID:8552)", "pathway": " (hsa:2330)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12527699;20166139;20947616;24275569;24715725;26771671;26839369;27862975;28783300;29557506;29789417;30397120;31154438;31844290;32157095;32387766;32897882;34185709;35051231;36284347;7872795", "class_list": "", "function": "Absence of the typical characteristic sequence motifs sets human FMO5 apart from all characterized Baeyer-Villiger mono-oxygenases so far. These findings open new perspectives in human oxidative metabolism, [RefSeq, PubMed]; Acts as a Baeyer-Villiger monooxygenase on a broad range of substrates. Catalyzes the insertion of an oxygen atom into a carbon-carbon bond adjacent to a carbonyl, which converts ketones to esters. Active on diverse carbonyl compounds, whereas soft nucleophiles are mostly non- or poorly reactive. In contrast with other forms of FMO it is non- or poorly active on 'classical' substrates such as drugs, pesticides, and dietary components containing soft nucleophilic heteroatoms. Able to oxidize drug molecules bearing a carbonyl group on an aliphatic chain, such as nabumetone and pentoxifylline. Also, in the absence of substrates, shows slow but yet significant NADPH oxidase activity. Acts as a positive modulator of cholesterol biosynthesis as well as glucose homeostasis, promoting metabolic aging via pleiotropic effects., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Broad spectrum monooxygenase that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including xenobiotics. Catalyzes the S-oxygenation of hypotaurine to produce taurine, an organic osmolyte involved in cell volume regulation as well as a variety of cytoprotective and developmental processes. In vitro, catalyzes the N-oxygenation of trimethylamine (TMA) to produce trimethylamine N-oxide (TMAO) and could therefore participate to the detoxification of this compound that is generated by the action of gut microbiota from dietary precursors such as choline, choline containing compounds, betaine or L-carnitine., [UniProtKB, UniProtKB]; Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]., [RefSeq]; Nabumetone and pentoxifylline, two widely used pharmaceuticals, were thereby demonstrated to be efficiently oxidized in vitro by FMO5 to the corresponding acetate esters with high selectivity., [RefSeq, PubMed]; Report relatively stable FMO5 expression throughout 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBG1;C9JJD1;Q8IV22", "ec_number_list": [ { "id": "1.14.13.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.8", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.14.13.148", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.148", "type": "external" }, { "id": "1.14.13.32", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.32", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.6.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.1", "type": "external" }, { "id": "1.14.13.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.225", "type": "external" }, { "id": "1.6.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.99.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0016174 NAD(P)H oxidase H2O2-forming activity;GO:0050661 NADP binding;GO:0004497 monooxygenase activity;GO:0004499 N,N-dimethylaniline monooxygenase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0090181 regulation of cholesterol metabolic process;GO:0006805 xenobiotic metabolic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P49326-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86US8-1", "uniprot_id": [ { "id": "EST1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86US8", "type": "external" } ], "mass": 160462.0, "length": 1419, "protein_name": "Telomerase-binding protein EST1A", "gene_name": "SMG6", "organism": "Human", "refseq_name": "telomerase-binding protein EST1A isoform 3", "refseq_ac": [ { "id": "NP_001243756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243756", "type": "external" } ], "gene_names_uniprotkb": "SMG6; C17orf31; EST1A; KIAA0732", "gene_names_refseq": "C17orf31; EST1A; SMG-6; SMG6; hEST1A; hSMG5/7a", "protein_names_uniprotkb": "Telomerase-binding protein EST1A; 3.1.-.-; Ever shorter telomeres 1A; Nonsense mediated mRNA decay factor SMG6; Smg-6 homolog; hEST1A; hSmg5/7a", "protein_names_refseq": "EST1 telomerase component homolog A; ever shorter telomeres 1A; nonsense mediated mRNA decay factor SMG6; smg-6 homolog, nonsense mediated mRNA decay factor; telomerase subunit EST1A; telomerase-binding protein EST1A isoform 3; telomerase-binding protein EST1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:23293); (R-HSA-975957)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11331269;11532962;11544179;11546874;11551508;12417715;12554878;12676087;12699629;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15592455;15721257;16186820;16209946;16284618;16452507;16601204;17053788;17352659;17363904;17557331;17803942;17893241;18066079;18256688;18423202;18524595;18657639;18669648;18767875;18974281;19060897;19150429;19179534;19359157;19413330;19417104;19478851;19503078;19556969;19690332;19859661;19909264;20023408;20068231;20479275;20691628;20817927;20930030;21145460;21419344;23085078;23186163;23234702;25220460;25418920;25576301;26375851;26992070;27600516;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29786170;30315122;30429286;31844290;31848261;32157095;32357974;32387766;32938616;32941650;33298915;33592498;33912179;33968037;34171305;34561969;35051231;35251023;35487895;35494241;36010968;36241641;36284347;37217939;38685156;38709891", "class_list": "", "function": "Associated with most or all active telomerase in HeLa cell extracts; overexpression of hEST1A induces anaphase bridges due to chromosome-end fusions, and telomeric DNA persists at the fusion points, [RefSeq, PubMed]; CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5'-(GTGTGG)(4)GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629)., [UniProtKB, PubMed, PubMed, PubMed]; Mechanism of circRNA_SMG6 mediating lung macrophage ECM degradation via miR-570-3p in microplastics-induced emphysema., [RefSeq, PubMed]; Plays a role in nonsense-mediated mRNA decay (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:17053788, PubMed:18974281, PubMed:19060897, PubMed:20930030)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay., [RefSeq, PubMed]; This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]., [RefSeq]; UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 42, "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": "B7Z874;O94837;Q86VH6;Q9UF60", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0016787 hydrolase activity;GO:0043021 ribonucleoprotein complex binding;GO:0046872 metal ion binding;GO:0042162 telomeric DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005697 telomerase holoenzyme complex", "go_biological_process": "GO:0032204 regulation of telomere maintenance;GO:0035303 regulation of dephosphorylation;GO:0006406 mRNA export from nucleus;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0032210 regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q86US8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NI29-1", "uniprot_id": [ { "id": "FBX27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NI29", "type": "external" } ], "mass": 31623.0, "length": 283, "protein_name": "F-box only protein 27", "gene_name": "FBXO27", "organism": "Human", "refseq_name": "F-box only protein 27", "refseq_ac": [ { "id": "NP_849142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849142", "type": "external" } ], "gene_names_uniprotkb": "FBXO27; FBG5; FBX27", "gene_names_refseq": "FBG5; FBXO27; Fbx27", "protein_names_uniprotkb": "F-box only protein 27; F-box/G-domain protein 5", "protein_names_refseq": "F-box only protein 27; F-box protein FBG5; F-box/G-domain protein 5; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:126433); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12383498;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18203720;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28743755;29153394;29557506;30484775;30610225;32005965;32284348;33444648;37074911;9380723;9668046;9790970;9887101;9891082", "class_list": "glycogene", "function": "Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; SCF(FBXO27) ubiquitinates glycoproteins exposed upon lysosomal damage to induce lysophagy., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Able to recognize and bind denatured glycoproteins, which are modified with complex-type oligosaccharides., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 419, "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": "Q96C87", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0036503 ERAD pathway;GO:0006516 glycoprotein catabolic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q8NI29-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW50-1", "uniprot_id": [ { "id": "F219A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW50", "type": "external" } ], "mass": 20400.0, "length": 185, "protein_name": "Protein FAM219A", "gene_name": "FAM219A", "organism": "Human", "refseq_name": "protein FAM219A isoform 1", "refseq_ac": [ { "id": "NP_001171869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171869", "type": "external" } ], "gene_names_uniprotkb": "FAM219A; C9orf25", "gene_names_refseq": "C9orf25; FAM219A", "protein_names_uniprotkb": "Protein FAM219A", "protein_names_refseq": "protein FAM219A isoform 1; protein FAM219A; uncharacterized protein C9orf25", "tax_id": 9606, "disease": "", "pathway": " (hsa:203259)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;17081983;18669648;19690332;21406692;25645385;25810538;25880248;29557506;31844290;31848261;32157095;32161166;32357974;33298915;33981976;35051231;37938771", "class_list": "", "function": "The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A2A364;B4DFE1;B4DSR8;Q5T590;Q5T591;Q5T592;Q5T594;Q5T595;Q8TAZ8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IW50-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75072-1", "uniprot_id": [ { "id": "FKTN_HUMAN", "url": "https://www.uniprot.org/uniprot/O75072", "type": "external" } ], "mass": 53724.0, "length": 461, "protein_name": "Ribitol-5-phosphate transferase FKTN", "gene_name": "FKTN", "organism": "Human", "refseq_name": "ribitol-5-phosphate transferase FKTN isoform a", "refseq_ac": [ { "id": "NP_001073270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073270", "type": "external" } ], "gene_names_uniprotkb": "FKTN; FCMD", "gene_names_refseq": "CMD1X; FCMD; FKTN; LGMD2M; LGMDR13; MDDGA4; MDDGB4; MDDGC4", "protein_names_uniprotkb": "Ribitol-5-phosphate transferase FKTN; 2.7.8.-; Fukutin; Fukuyama-type congenital muscular dystrophy protein; Ribitol-5-phosphate transferase", "protein_names_refseq": "Fukuyama type congenital muscular dystrophy protein; patient fukutin; ribitol-5-phosphate transferase FKTN isoform a; ribitol-5-phosphate transferase FKTN; ribitol-5-phosphate transferase", "tax_id": 9606, "disease": "Fukuyama congenital muscular dystrophy (Disease Ontology:DOID:0050559); Walker-Warburg syndrome (Disease Ontology:DOID:0050560); muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); autosomal recessive limb-girdle muscular dystrophy type 2L (Disease Ontology:DOID:0110284); autosomal recessive limb-girdle muscular dystrophy type 2M (Disease Ontology:DOID:0110296); dilated cardiomyopathy 1B (Disease Ontology:DOID:0110443); dilated cardiomyopathy 1X (Disease Ontology:DOID:0110444); muscular dystrophy-dystroglycanopathy type B4 (Disease Ontology:DOID:0112379); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:2218); (R-HSA-9939291)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;10545611;10817652;11115853;11165248;11237011;11445638;11592034;11709191;11741828;12601708;12966029;14627679;15121789;16959974;17030669;17034757;17036286;17044012;17878207;18177472;18195152;19179078;19299310;19342235;19587235;21228398;22223806;22275357;22522420;22958903;23125099;23217329;23359570;23390185;23481700;24530477;25279697;25279699;26687144;26923585;26992070;27130732;27194101;27493216;27733679;27909055;28904123;29416295;29477842;29557506;30484775;31844290;31949166;32149355;32265295;32350084;32357974;32938616;33298915;33912179;33968037;34015330;34357683;34405274;34830034;35251023;35843586;9690476", "class_list": "glycogene", "function": "Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:26923585, PubMed:27194101, PubMed:29477842). This constitutes the first step in the formation of the ribitol 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:17034757, PubMed:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842). Required for normal location of POMGNT1 in Golgi membranes, and for normal POMGNT1 activity (PubMed:17034757). May interact with and reinforce a large complex encompassing the outside and inside of muscle membranes (PubMed:25279699). Could be involved in brain development (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Compound variants of FKTN, POMGNT1, and LAMB1 gene identified by prenatal whole-exome sequencing in three fetuses with congenital hydrocephalus., [RefSeq, PubMed]; Fukutin Protein Participates in Cell Proliferation by Enhancing Cyclin D1 Expression through Binding to the Transcription Factor Activator Protein-1: An In Vitro Study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 730, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DUX9;J3KP13;Q3MIJ1;Q96TE1;Q9P295", "ec_number_list": [ { "id": "2.7.8.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.-", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.2.61", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.61", "type": "external" } ], "go_molecular_function": "GO:0016780 phosphotransferase activity, for other substituted phosphate groups", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0006493 protein O-linked glycosylation;GO:0007517 muscle organ development;GO:0046329 negative regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O75072-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RN3-1", "uniprot_id": [ { "id": "FA98C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RN3", "type": "external" } ], "mass": 37329.0, "length": 349, "protein_name": "Protein FAM98C", "gene_name": "FAM98C", "organism": "Human", "refseq_name": "protein FAM98C isoform 1", "refseq_ac": [ { "id": "NP_777565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777565", "type": "external" } ], "gene_names_uniprotkb": "FAM98C", "gene_names_refseq": "FAM98C", "protein_names_uniprotkb": "Protein FAM98C", "protein_names_refseq": "protein FAM98C isoform 1; protein FAM98C", "tax_id": 9606, "disease": "", "pathway": " (hsa:147965)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;25505266;25576301;26154972;26811146;27846572;28063628;29242379;29393594;29557506;29632046;32265295;32387766;32502341;32983136;35051231;37217939", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NMW3;Q66K45", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0072669 tRNA-splicing ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q17RN3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV48-1", "uniprot_id": [ { "id": "ERI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV48", "type": "external" } ], "mass": 40064.0, "length": 349, "protein_name": "3'-5' exoribonuclease 1", "gene_name": "ERI1", "organism": "Human", "refseq_name": "3'-5' exoribonuclease 1 isoform 1", "refseq_ac": [ { "id": "NP_699163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699163", "type": "external" } ], "gene_names_uniprotkb": "ERI1; 3'EXO; THEX1", "gene_names_refseq": "3'HEXO; ERI1; HEXO; HXAL; SEMDGC; SEMDGS; THEX1", "protein_names_uniprotkb": "3'-5' exoribonuclease 1; 3'-5' exonuclease ERI1; 3.1.13.1; Eri-1 homolog; HEXO; Histone mRNA 3'-end-specific exoribonuclease; Histone mRNA 3'-exonuclease 1; Protein 3'hExo", "protein_names_refseq": "3' exoribonuclease; 3'-5' exonuclease ERI1; 3'-5' exoribonuclease 1 isoform 1; 3'-5' exoribonuclease 1; enhanced RNAi three prime mRNA exonuclease homolog 1; histone mRNA 3' end-specific exonuclease; histone mRNA 3'-end-specific exoribonuclease; histone mRNA 3'-exonuclease 1; three prime histone mRNA exonuclease 1; three prime mRNA exonuclease 1", "tax_id": 9606, "disease": "Hoxha-Aliu syndrome (MONDO:MONDO:0958005); spondyloepimetaphyseal dysplasia, Guo-Campeau type (MONDO:MONDO:0958006)", "pathway": " (hsa:90459); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "11237011;11922599;12068309;12150911;14536070;14961122;15451662;16037817;16043514;16738141;16912046;17135487;17189298;17353269;17412707;18065403;18438418;19106111;19332556;19564402;19690332;19801658;20038530;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23186163;23439679;23482395;2388630;24366607;24424021;24550520;25525153;25576301;25969445;26154972;26237581;26992070;27846572;27920218;28063628;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29632046;30429286;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32960265;32983136;33717175;33968037;33981976;34171305;34509645;35051231;35561310;35580925;36208065;37352860;40307207;9482744", "class_list": "", "function": "3'hExo is a 3' exonuclease specifically interacting with the 3' end of histone mRNA, [RefSeq, PubMed]; 3'hExo is a primary candidate for the exonuclease that initiates rapid decay of histone mRNA upon completion and/or inhibition of DNA replication, [RefSeq, PubMed]; Data describe the structure of the nuclease domain of 3'-5'-exoribonuclease (3'hExo) complexed with rAMP in the presence of magnesium at 1.6 A resolution., [RefSeq, PubMed]; Influenza A virus co-opts ERI1 exonuclease bound to histone mRNA to promote viral transcription., [RefSeq, PubMed]; Molecular cloning; degrades siRNAs in vitro[ERI-1], [RefSeq, PubMed]; Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans., [RefSeq, PubMed]; RNA exonuclease that binds to the 3'-end of histone mRNAs and degrades them, suggesting that it plays an essential role in histone mRNA decay after replication (PubMed:14536070, PubMed:16912046, PubMed:17135487, PubMed:37352860). A 2' and 3'-hydroxyl groups at the last nucleotide of the histone 3'-end is required for efficient 3'-end histone mRNA exonuclease activity and degradation of RNA substrates (PubMed:14536070, PubMed:16912046, PubMed:17135487). Also able to degrade the 3'-overhangs of short interfering RNAs (siRNAs) in vitro, suggesting a possible role as regulator of RNA interference (RNAi) (PubMed:14961122). Required for binding the 5'-ACCCA-3' sequence present in stem-loop structure (PubMed:14536070, PubMed:16912046). Able to bind other mRNAs (PubMed:14536070, PubMed:16912046). Required for 5.8S rRNA 3'-end processing (PubMed:37352860). Also binds to 5.8s ribosomal RNA (By similarity). Binds with high affinity to the stem-loop structure of replication-dependent histone pre-mRNAs (PubMed:14536070, PubMed:16912046, PubMed:17135487). In vitro, does not have sequence specificity (PubMed:17135487). In vitro, has weak DNA exonuclease activity (PubMed:17135487). In vitro, shows biphasic kinetics such that there is rapid hydrolysis of the last three unpaired RNA nucleotides in the 39 flanking sequence followed by a much slower cleavage through the stem that occurs over a longer incubation period in the order of hours (PubMed:17135487). ERI1-mediated RNA metabolism plays a key role in chondrogenesis (PubMed:37352860)., [UniProtKB, PubMed, PubMed, 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": 11, "reported_glycation": 0, "reported_snv": 12, "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": "A8K4U7;Q9NSX3", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0071207 histone pre-mRNA stem-loop binding;GO:0008859 exoribonuclease II activity;GO:0046872 metal ion binding;GO:0008408 3'-5' exonuclease activity;GO:0019843 rRNA binding", "go_cellular_component": "GO:0071204 histone pre-mRNA 3'end processing complex;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0031125 rRNA 3'-end processing;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0000460 maturation of 5.8S rRNA;GO:0000467 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0060906 negative regulation of regulatory ncRNA-mediated heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q8IV48-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51570-1", "uniprot_id": [ { "id": "GALK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P51570", "type": "external" } ], "mass": 42272.0, "length": 392, "protein_name": "Galactokinase", "gene_name": "GALK1", "organism": "Human", "refseq_name": "galactokinase", "refseq_ac": [ { "id": "NP_000145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000145", "type": "external" } ], "gene_names_uniprotkb": "GALK1; GALK", "gene_names_refseq": "GALK1; GALK; GK1; HEL-S-19", "protein_names_uniprotkb": "Galactokinase; 2.7.1.6; Galactose kinase", "protein_names_refseq": "epididymis secretory protein Li 19; galactokinase; galactose kinase", "tax_id": 9606, "disease": "galactokinase deficiency (Disease Ontology:DOID:14695); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:2584); (R-HSA-5609976); (R-HSA-70370)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10521295;10790206;10801319;11139256;11231902;11237011;12694189;12705493;12753898;12942049;15024738;15026423;15175331;15322984;15590630;1897530;2011574;23301498;23430910;24275569;24715725;26154972;27846572;28467828;28834231;29242379;29485866;29557506;29893426;30253338;31844290;31848261;31998317;32157095;32350084;32357974;32502341;32807972;32897882;32938616;32983136;33043033;33141586;33298915;33912179;33968037;34019948;34087483;34171305;34185709;34229054;35051231;35154160;35251023;35561310;35580925;36010968;37834386;38253038;40596516;7542884;7670469;7851421;8908517", "class_list": "glycogene", "function": "Catalyzes the transfer of a phosphate from ATP to alpha-D-galactose and participates in the first committed step in the catabolism of galactose., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Focussing on four residues (Leu-231, Gln-242, Glu-244 and Glu-245) this study conducted molecular dynamics simulations to explore the effects of changing these residues to glycine or serine. The four serine variants were expressed as recombinant proteins. All had altered steady state enzyme kinetic parameters with alpha-d-galactose as a substrate., [RefSeq, PubMed]; Galactokinase deficiency: lessons from the GalNet registry., [RefSeq, PubMed]; Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]., [RefSeq]; Molecular docking analysis revealed a decrease in interaction between the protein and ATP in all the 3 mutations (P28T, A198V, and L139P), and molecular dynamic simulations of 50 ns showed a loss of stability and compactness in the mutant proteins. Also P28T and A198V were predicted to alter the structure and function of GALK protein when compared to the mutant L139P., [RefSeq, PubMed]; Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa. 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": 561, "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": "B2RC07;B4E1G6", "ec_number_list": [ { "id": "2.7.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.6", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004335 galactokinase activity;GO:0005534 galactose binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0033499 galactose catabolic process via UDP-galactose, Leloir pathway;GO:0006012 galactose metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "P51570-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29034-1", "uniprot_id": [ { "id": "S10A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P29034", "type": "external" } ], "mass": 11117.0, "length": 98, "protein_name": "Protein S100-A2", "gene_name": "S100A2", "organism": "Human", "refseq_name": "protein S100-A2 isoform 1", "refseq_ac": [ { "id": "NP_005969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005969", "type": "external" } ], "gene_names_uniprotkb": "S100A2; S100L", "gene_names_refseq": "CAN19; S100A2; S100L", "protein_names_uniprotkb": "Protein S100-A2; CAN19; Protein S-100L; S100 calcium-binding protein A2", "protein_names_refseq": "protein S100-A2 isoform 1; protein S100-A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6273)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;1286667;1372446;18394645;20188096;22399290;25576301;32157095;32938616;33831707;33968037;35107180;36574914;37648942;39187936;9481475", "class_list": "", "function": "May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes. May also play a role in suppressing tumor cell growth., [UniProtKB, PubMed, PubMed]; Multi-omics Analysis Identifies Hypoxia Subtypes and S100A2 as an Immunosuppressive Factor in Cervical Cancer., [RefSeq, PubMed]; NFIC1 inhibits the migration and invasion of MDA-MB-231 cells through S100A2-mediated inactivation of MEK/ERK pathway., [RefSeq, PubMed]; TFAP2A Activates S100A2 to Mediate Glutamine Metabolism and Promote Lung Adenocarcinoma Metastasis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activation of S100A2 expression by HIF-1alpha via binding to the hypomethylated hypoxia response elements in HCC 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": 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": "O00266;Q3KRB9;Q5RHS8;Q9BU83", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046914 transition metal ion binding;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "GO:0043542 endothelial cell migration", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P29034-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P050-1", "uniprot_id": [ { "id": "FXL22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P050", "type": "external" } ], "mass": 26028.0, "length": 231, "protein_name": "F-box and leucine-rich protein 22", "gene_name": "FBXL22", "organism": "Human", "refseq_name": "F-box and leucine-rich protein 22 isoform 1", "refseq_ac": [ { "id": "NP_976307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976307", "type": "external" } ], "gene_names_uniprotkb": "FBXL22", "gene_names_refseq": "FBXL22; Fbl22", "protein_names_uniprotkb": "F-box and leucine-rich protein 22", "protein_names_refseq": "F-box and leucine-rich protein 22 isoform 1; F-box and leucine-rich protein 22; F-box/LRR-repeat protein 22", "tax_id": 9606, "disease": "", "pathway": " (hsa:283807); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15520277;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;22972877;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;30379171;30610225;31844290;32005965;32284348;33444648;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Fbxl22 promotes the proteasome-dependent degradation of sarcomeric proteins and is essential for maintenance of normal contractile function., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Promotes ubiquitination of sarcomeric proteins alpha-actinin-2 (ACTN2) and filamin-C (FLNC)., [UniProtKB, PubMed]; This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "A0A1W2PQW8", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0030018 Z disc", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q6P050-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTX9-1", "uniprot_id": [ { "id": "F217B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTX9", "type": "external" } ], "mass": 42052.0, "length": 383, "protein_name": "Protein FAM217B", "gene_name": "FAM217B", "organism": "Human", "refseq_name": "protein FAM217B isoform 1", "refseq_ac": [ { "id": "NP_001177755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177755", "type": "external" } ], "gene_names_uniprotkb": "FAM217B; C20orf177", "gene_names_refseq": "C20orf177; FAM217B; dJ551D2.5", "protein_names_uniprotkb": "Protein FAM217B", "protein_names_refseq": "protein FAM217B isoform 1; protein FAM217B; uncharacterized protein C20orf177", "tax_id": 9606, "disease": "", "pathway": " (hsa:63939)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16959974;25576301;27920218;28832583;28904123;29242379;30779550;31844290;32157095;36010968", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KWH1;Q9NTA3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9NTX9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9S5-1", "uniprot_id": [ { "id": "FKRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9S5", "type": "external" } ], "mass": 54568.0, "length": 495, "protein_name": "Ribitol 5-phosphate transferase FKRP", "gene_name": "FKRP", "organism": "Human", "refseq_name": "ribitol 5-phosphate transferase FKRP", "refseq_ac": [ { "id": "NP_001034974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034974", "type": "external" } ], "gene_names_uniprotkb": "FKRP", "gene_names_refseq": "FKRP; FKTR; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5", "protein_names_uniprotkb": "Ribitol 5-phosphate transferase FKRP; 2.7.8.-; Fukutin-related protein; Ribitol-5-phosphate transferase", "protein_names_refseq": "ribitol 5-phosphate transferase FKRP; ribitol-5-phosphate transferase", "tax_id": 9606, "disease": "Walker-Warburg syndrome (Disease Ontology:DOID:0050560); muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); autosomal recessive limb-girdle muscular dystrophy type 2I (Disease Ontology:DOID:0110299); muscular dystrophy-dystroglycanopathy type B5 (Disease Ontology:DOID:0110635); congenital muscular dystrophy-dystroglycanopathy type A5 (Disease Ontology:DOID:0111241); limb-girdle muscular dystrophy (Disease Ontology:DOID:11724); dilated cardiomyopathy (Disease Ontology:DOID:12930); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:79147); (R-HSA-9939291)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;10545611;11053680;11071142;11237011;11592034;11709191;11741828;12654965;12666124;12966029;14523375;14627679;14647208;14652796;15121789;15213246;15580560;15886712;16634037;17030669;17034757;17044012;17336067;17554798;18195152;19587235;19900540;20236121;21886772;22223806;22522420;22981120;23125099;23217329;23359570;23390185;23481700;23800702;24190977;25279697;25279699;26687144;26923585;27130732;27194101;27493216;27733679;27909055;28218747;28904123;29242379;29416295;29437277;29477842;30315122;30345904;31844290;31949166;32149355;32350084;33298915;33968037;34015330;34357683;35051231;35251023;37154180;37541260;37695533;37927270;38277301;38665916", "class_list": "glycogene", "function": "Break Down of the Complexity and Inconsistency Between Levels of Matriglycan and Disease Phenotype in FKRP-Related Dystroglycanopathies: A Review and Model of Interpretation. Review article, [RefSeq, PubMed]; Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:26923585, PubMed:27194101, PubMed:29477842, PubMed:31949166). This constitutes the second step in the formation of the ribose 5-phosphate tandem repeat which links the phosphorylated O-mannosyl trisaccharide to the ligand binding moiety composed of repeats of 3-xylosyl-alpha-1,3-glucuronic acid-beta-1 (PubMed:25279699, PubMed:26923585, PubMed:27194101, PubMed:29477842, PubMed:31949166)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9., [RefSeq, PubMed]; Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)., [RefSeq, PubMed]; Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients., [RefSeq, PubMed]; This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 963, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 8, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K5G7", "ec_number_list": [ { "id": "2.7.8.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.8.-", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.2.61", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.61", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0043236 laminin binding;GO:0002162 dystroglycan binding;GO:0016780 phosphotransferase activity, for other substituted phosphate groups", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005615 extracellular space;GO:0005791 rough endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0042383 sarcolemma", "go_biological_process": "GO:0051262 protein tetramerization;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9H9S5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75015-1", "uniprot_id": [ { "id": "FCG3B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75015", "type": "external" } ], "mass": 26243.0, "length": 233, "protein_name": "Low affinity immunoglobulin gamma Fc region receptor III-B", "gene_name": "FCGR3B", "organism": "Human", "refseq_name": "low affinity immunoglobulin gamma Fc region receptor III-B isoform 5", "refseq_ac": [ { "id": "NP_001257966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257966", "type": "external" } ], "gene_names_uniprotkb": "FCGR3B; CD16B; FCG3; FCGR3; IGFR3", "gene_names_refseq": "CD16-I; CD16b; CD16; FCG3; FCGR3B; FCGR3; FCRIIIb; HNA-1", "protein_names_uniprotkb": "Low affinity immunoglobulin gamma Fc region receptor III-B; CD16-I; Fc-gamma RIII-beta; Fc-gamma RIIIb; Fc-gamma RIII; FcR-10; FcRIIIb; FcRIII; IgG Fc receptor III-1", "protein_names_refseq": "Fc fragment of IgG receptor IIIb; Fc fragment of IgG, low affinity IIIb, receptor (CD16b); Fc gamma receptor III-B; FcgammaRIIIb; fc-gamma RIII-beta; fc-gamma RIIIb; human neutrophil antigen 1; igG Fc receptor III-1; low affinity immunoglobulin gamma Fc region receptor III-B isoform 5; low affinity immunoglobulin gamma Fc region receptor III-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:2215); (R-HSA-163125); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10917521;11021536;11072085;11237011;15245367;1825220;23650620;2443973;2521732;2523415;2525780;2526846;25345863;28566370;2967436;29741879;34108956;3422494;34544201;34551786;36553504;7836402;8692836;9028335", "class_list": "", "function": "Association of Fc Gamma Receptor 3B Gene Copy Number Variation with Rheumatoid Arthritis Susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; FCGR Genetic Variation in Two Populations From Ecuador Highlands-Extensive Copy-Number Variation, Distinctive Distribution of Functional Polymorphisms, and a Novel, Locally Common, Chimeric FCGR3B/A (CD16B/A) Gene. Publication Status: Online-Only, [RefSeq, PubMed]; Low-affinity immunoglobulin gamma Fc region receptor III-B (FcgammaRIIIB, CD16B) deficiency in patients with blood and immune system disorders., [RefSeq, PubMed]; Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils., [UniProtKB]; Significant differences in FcgammaRIIa, FcgammaRIIIa and FcgammaRIIIb genes polymorphism and anti-malarial IgG subclass pattern are associated with severe Plasmodium falciparum malaria in Saudi children. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012]., [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": 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": 9, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 40, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0034235 GPI anchor binding;GO:0019864 IgG binding;GO:0019770 IgG receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0001788 antibody-dependent cellular cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "O75015-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P85037-1", "uniprot_id": [ { "id": "FOXK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P85037", "type": "external" } ], "mass": 75457.0, "length": 733, "protein_name": "Forkhead box protein K1", "gene_name": "FOXK1", "organism": "Human", "refseq_name": "forkhead box protein K1", "refseq_ac": [ { "id": "NP_001032242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032242", "type": "external" } ], "gene_names_uniprotkb": "FOXK1; MNF", "gene_names_refseq": "FOXK1L; FOXK1", "protein_names_uniprotkb": "Forkhead box protein K1; MNF; Myocyte nuclear factor", "protein_names_refseq": "MNF; forkhead box protein K1; myocyte nuclear factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:221937); (R-HSA-5689603)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10.1074/mcp.M114.046862;11237011;15202027;15289879;16624804;16906146;17081983;17139257;17287340;17670796;18212344;18220336;18497827;18669648;18767875;19188440;19413330;19415658;19651622;19664995;19815555;20058876;20068231;20436459;20805357;21406692;22661428;23186163;23301498;23481700;24129315;24275569;24634419;24715725;2530630;25451922;25576301;25805136;25813380;25852164;26154972;26992070;27846572;27862975;27920218;28446606;28510447;28657654;28832583;28904123;29237092;29242379;29351928;29393594;29508533;29557506;29786170;30379171;30429286;30620550;30664650;30952843;31154438;31373491;31492838;31844290;31848261;32119511;32157095;32357974;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34171305;34185709;34561969;34725712;34846842;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35580925;35705054;36010968;37173384;37340703;37541260;37818826;38665916;38782893;38838015;39094826;39302247;39531497;39534244;40136647;40246981;40307207;40596516;41350704;41507163;9528852;9790970", "class_list": "", "function": "Crystallographic analysis of the FOXK1a-DNA complex, [RefSeq, PubMed]; FOXK1 regulates malignant progression and radiosensitivity through direct transcriptional activation of CDC25A and CDK4 in esophageal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; FOXK1 upregulation is correlated with tumor progression and tumor associated macrophages infiltration in renal cell carcinoma., [RefSeq, PubMed]; Forkhead box protein FOXK1 disrupts the circadian rhythm to promote breast tumorigenesis in response to insulin resistance., [RefSeq, PubMed]; Gut microbial metabolite targets HDAC3-FOXK1-interferon axis in fibroblast-like synoviocytes to ameliorate rheumatoid arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional regulator involved in different processes such as glucose metabolism, aerobic glycolysis, muscle cell differentiation and autophagy (By similarity). Recognizes and binds the forkhead DNA sequence motif (5'-GTAAACA-3') and can both act as a transcription activator or repressor, depending on the context (PubMed:17670796). Together with FOXK2, acts as a key regulator of metabolic reprogramming towards aerobic glycolysis, a process in which glucose is converted to lactate in the presence of oxygen (By similarity). Acts by promoting expression of enzymes for glycolysis (such as hexokinase-2 (HK2), phosphofructokinase, pyruvate kinase (PKLR) and lactate dehydrogenase), while suppressing further oxidation of pyruvate in the mitochondria by up-regulating pyruvate dehydrogenase kinases PDK1 and PDK4 (By similarity). Probably plays a role in gluconeogenesis during overnight fasting, when lactate from white adipose tissue and muscle is the main substrate (By similarity). Involved in mTORC1-mediated metabolic reprogramming: in response to mTORC1 signaling, translocates into the nucleus and regulates the expression of genes associated with glycolysis and downstream anabolic pathways, such as HIF1A, thereby regulating glucose metabolism (By similarity). Together with FOXK2, acts as a negative regulator of autophagy in skeletal muscle: in response to starvation, enters the nucleus, binds the promoters of autophagy genes and represses their expression, preventing proteolysis of skeletal muscle proteins (By similarity). Acts as a transcriptional regulator of the myogenic progenitor cell population in skeletal muscle (By similarity). Binds to the upstream enhancer region (CCAC box) of myoglobin (MB) gene, regulating the myogenic progenitor cell population (By similarity). Promotes muscle progenitor cell proliferation by repressing the transcriptional activity of FOXO4, thereby inhibiting myogenic differentiation (By similarity). Involved in remodeling processes of adult muscles that occur in response to physiological stimuli (By similarity). Required to correct temporal orchestration of molecular and cellular events necessary for muscle repair (By similarity). Represses myogenic differentiation by inhibiting MEFC activity (By similarity). Positively regulates Wnt/beta-catenin signaling by translocating DVL into the nucleus (PubMed:25805136). Reduces virus replication, probably by binding the interferon stimulated response element (ISRE) to promote antiviral gene expression (PubMed:25852164). Accessory component of the polycomb repressive deubiquitinase (PR-DUB) complex; recruits the PR-DUB complex to specific FOXK1-bound genes (PubMed:24634419, PubMed:30664650). Acts as an indirect positive regulator of ferroptosis following phosphorylation by isoform Beta-II of PRKCB by promoting expression and subsequent secretion of LGALS13 (PubMed:40246981)., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 43, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 43, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 43, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 32, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 43, "binding_glycan_count": 0, "secondary_ac_list": "", "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:0071889 14-3-3 protein 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:0005737 cytoplasm;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:0042594 response to starvation;GO:0010906 regulation of glucose metabolic process", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "P85037-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07093-1", "uniprot_id": [ { "id": "GDN_HUMAN", "url": "https://www.uniprot.org/uniprot/P07093", "type": "external" } ], "mass": 44002.0, "length": 398, "protein_name": "Glia-derived nexin", "gene_name": "SERPINE2", "organism": "Human", "refseq_name": "glia-derived nexin isoform b precursor", "refseq_ac": [ { "id": "NP_001130000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130000", "type": "external" } ], "gene_names_uniprotkb": "SERPINE2; PI7; PN1", "gene_names_refseq": "GDNPF; GDN; PI-7; PI7; PN-1; PN1; PNI; SERPINE2", "protein_names_uniprotkb": "Glia-derived nexin; GDN; PI-7; PN-1; Peptidase inhibitor 7; Protease nexin 1; Protease nexin I; Serpin E2", "protein_names_refseq": "glia-derived nexin isoform b precursor; glia-derived nexin; glial-derived neurite promoting factor; peptidase inhibitor 7; protease nexin I; serpin E2; serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); brain edema (Disease Ontology:DOID:4724)", "pathway": " (hsa:5270); (R-HSA-75205); (R-HSA-9769733); (R-HSA-9769739); (R-HSA-9769743)", "pathway_count": 5, "publication_count": 157, "publication_id_list": "10.1101/2023.09.13.557529;10026158;11035113;11237011;11238108;11342438;11833835;12007600;12052963;12907439;134998;14982929;15340161;16161994;1618828;16619025;16959974;17506785;17598008;17635713;17666018;1829461;1846368;1902833;19297154;1930190;20004170;20068231;20112406;2019570;20427285;2104832;2110473;21107324;2156852;2166055;21932952;22144186;22618708;2271516;22786881;22961984;23021219;23090970;2318848;23193360;23483454;23683607;2384594;24190977;2440681;24554904;24715725;24900876;2496749;24987109;2502206;2503541;2505252;2521625;2538457;2544876;25576301;25645385;25713144;25855704;26473492;27363989;2742826;27600516;27846572;2866798;2877744;28832583;29223926;29242379;2935528;29393594;29419409;29557506;2962641;29789417;3011081;3017409;30192525;3023326;30459171;30484775;3082357;30833945;3090045;30918026;31154438;31222486;31262782;3129422;3134349;31439947;31844290;31848261;32157095;32161166;32350084;32488085;32897882;32938616;33592498;33936100;33968037;33981976;34078123;34171305;3427015;34357683;35051231;3524673;35289036;35580925;36010968;36241641;36797769;36951953;37074911;3733688;3744129;37726033;37729702;38383657;38407942;3863104;38665916;3997857;40596516;6323392;6334516;6433976;6438527;6448849;7199524;7356959;7499257;7727775;7756647;8144529;8148489;8338946;8626656;8639781;9218519;9414276;9459334;9469622;9607108;9774404;9834200;9886297;9888880", "class_list": "", "function": "Integrating artificial intelligence in osteosarcoma prognosis: the prognostic significance of SERPINE2 and CPT1B biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; Microdissection of cancer-associated fibroblast infiltration subtypes unveils the secreted SERPINE2 contributing to immunosuppressive microenvironment and immuotherapeutic resistance in gastric cancer: A large-scale study integrating bulk and single-cell transcriptome profiling., [RefSeq, PubMed]; SERPINE2 promotes liver cancer metastasis by inhibiting c-Cbl-mediated EGFR ubiquitination and degradation., [RefSeq, PubMed]; Serine protease inhibitor with activity toward thrombin, trypsin, and urokinase. Promotes neurite extension by inhibiting thrombin. Binds heparin., [UniProtKB]; Targeting tumor exosomal circular RNA cSERPINE2 suppresses breast cancer progression by modulating MALT1-NF-B-IL-6 axis of tumor-associated macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2R6A4;B4DIF2;Q53S15;Q5D0C4", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0031012 extracellular matrix;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0010757 negative regulation of plasminogen activation;GO:0030334 regulation of cell migration;GO:0030195 negative regulation of blood coagulation", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "P07093-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60861-3", "uniprot_id": [ { "id": "GAS7_HUMAN", "url": "https://www.uniprot.org/uniprot/O60861", "type": "external" } ], "mass": 54371.0, "length": 476, "protein_name": "Growth arrest-specific protein 7", "gene_name": "GAS7", "organism": "Human", "refseq_name": "growth arrest-specific protein 7 isoform d", "refseq_ac": [ { "id": "NP_001124303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124303", "type": "external" } ], "gene_names_uniprotkb": "GAS7; KIAA0394", "gene_names_refseq": "GAS7", "protein_names_uniprotkb": "Growth arrest-specific protein 7; GAS-7", "protein_names_refseq": "growth arrest-specific protein 7 isoform d", "tax_id": 9606, "disease": "", "pathway": " (hsa:8522)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10706619;15948147;19690332;22645359;23481700;24715725;25576301;26992070;28514659;29557506;31154438;31844290;31848261;32157095;32488085;32502341;32897882;32983136;33043033;33592498;33633747;33717175;33981976;34185709;35051231;35400990;35580925;36284347;36908025;37769891;37938771;38240248;38429909", "class_list": "", "function": "Adipose stem cell-derived exosomes promote wound healing by regulating the let-7i-5p/GAS7 axis., [RefSeq, PubMed]; Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0078607 increases platinum drug sensitivity via miR-196b-5p/GAS7 axis in ovarian cancer., [RefSeq, PubMed]; Gas7 attenuates hepatocellular carcinoma progression and chemoresistance through the PI3K/Akt signaling pathway., [RefSeq, PubMed]; Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; May play a role in promoting maturation and morphological differentiation of cerebellar neurons., [UniProtKB]; Single-nucleotide polymorphisms of TLR4 and GAS7 linked to primary open-angle glaucoma among patients of Shenyang, China., [RefSeq, PubMed]; This work reports the identification of two human Gas7 cDNA: hGas7-a with 2,427 nucleotides, which encodes 330 amino acids, and hGas7-b with 2,610 nucleotides, which encodes 412 amino acids according to predicted open-reading-frames., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KAC2;B2RCK9;O43144;Q53Y77;Q7Z571", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0030136 clathrin-coated vesicle", "go_biological_process": "GO:0048812 neuron projection morphogenesis;GO:0048268 clathrin coat assembly;GO:0072583 clathrin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O60861-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHL3-1", "uniprot_id": [ { "id": "F153A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHL3", "type": "external" } ], "mass": 34712.0, "length": 310, "protein_name": "Protein FAM153A", "gene_name": "FAM153A", "organism": "Human", "refseq_name": "protein FAM153A isoform 1", "refseq_ac": [ { "id": "NP_775934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775934", "type": "external" } ], "gene_names_uniprotkb": "FAM153A; KIAA0752", "gene_names_refseq": "FAM153A; NY-REN-7", "protein_names_uniprotkb": "Protein FAM153A; Renal carcinoma antigen NY-REN-7", "protein_names_refseq": "NY REN 7 antigen; protein FAM153A isoform 1; protein FAM153A; renal carcinoma antigen NY-REN-7", "tax_id": 9606, "disease": "", "pathway": " (hsa:285596)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "10508479;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": 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": "A8K0F3;O94852", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9UHL3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95721-1", "uniprot_id": [ { "id": "SNP29_HUMAN", "url": "https://www.uniprot.org/uniprot/O95721", "type": "external" } ], "mass": 28970.0, "length": 258, "protein_name": "Synaptosomal-associated protein 29", "gene_name": "SNAP29", "organism": "Human", "refseq_name": "synaptosomal-associated protein 29", "refseq_ac": [ { "id": "NP_004773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004773", "type": "external" } ], "gene_names_uniprotkb": "SNAP29", "gene_names_refseq": "CEDNIK; SNAP-29; SNAP29", "protein_names_uniprotkb": "Synaptosomal-associated protein 29; SNAP-29; Soluble 29 kDa NSF attachment protein; Vesicle-membrane fusion protein SNAP-29", "protein_names_refseq": "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome; soluble 29 kDa NSF attachment protein; synaptosomal-associated protein 29; synaptosomal-associated protein, 29kDa; synaptosomal-associated protein, 29kD; synaptosome associated protein 29kDa; vesicle-membrane fusion protein SNAP-29", "tax_id": 9606, "disease": "CEDNIK syndrome (Disease Ontology:DOID:0060337); chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413)", "pathway": " (hsa:9342); (R-HSA-6798695); (R-HSA-6811438)", "pathway_count": 3, "publication_count": 139, "publication_id_list": "10.1101/2023.09.13.557529;10189370;10652308;10652516;11237011;11317222;11718716;11748249;12011112;12383348;12429822;15504911;15718469;15728195;15758030;15968592;17274799;18086915;18256213;18451304;18477386;19164740;19536132;19715559;20068231;20112406;20163571;20166139;20874812;21807881;22013193;22188167;22898188;23091056;23186163;23217709;23239882;23378023;23462996;23650620;23839779;23936529;23940353;24119662;24275569;25418920;25419848;25548167;25576301;25686250;25686604;25708460;25810538;25892735;26154972;26811146;26929215;26992070;27440922;27600516;27846572;27893789;27920218;28063628;28228285;28514659;28691313;28832583;28904123;29242379;29314611;29393594;29454964;29493099;29507186;29557506;29632046;29769354;30315122;30410026;30429286;30524438;30779550;31091447;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33422265;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34405274;34509645;35051231;35251023;35318648;35561310;35580925;36010968;36181414;36284347;36581221;37217939;37821429;38340317;40596516;8636227;8692836;8945478;9244307;9476900;9510256;9653114;9707577;9852078;9915833", "class_list": "", "function": "Human YKT6 forms priming complex with STX17 and SNAP29 to facilitate autophagosome-lysosome fusion., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Mol Psychiatry 2001 Sep;6(5):605], [RefSeq, PubMed]; SNARE-binding protein synaptosomal-associated protein of 29 kDa (SNAP29) regulates the intracellular sequestration of glucose transporter 4 (GLUT4) vesicles in adipocytes., [RefSeq, PubMed]; SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four alpha-helical bundle that drives membrane fusion. SNAP29 is a SNARE involved in autophagy through the direct control of autophagosome membrane fusion with the lysososome membrane. Also plays a role in ciliogenesis by regulating membrane fusions., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted 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": 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": 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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0015031 protein transport;GO:0016236 macroautophagy;GO:0060271 cilium assembly;GO:0061025 membrane fusion", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "O95721-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34059-1", "uniprot_id": [ { "id": "GALNS_HUMAN", "url": "https://www.uniprot.org/uniprot/P34059", "type": "external" } ], "mass": 58026.0, "length": 522, "protein_name": "N-acetylgalactosamine-6-sulfatase", "gene_name": "GALNS", "organism": "Human", "refseq_name": "N-acetylgalactosamine-6-sulfatase isoform 1 precursor", "refseq_ac": [ { "id": "NP_000503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000503", "type": "external" } ], "gene_names_uniprotkb": "GALNS", "gene_names_refseq": "GALNAC6S; GALNS; GAS; GalN6S; MPS4A", "protein_names_uniprotkb": "N-acetylgalactosamine-6-sulfatase; 3.1.6.4; Chondroitinase; Chondroitinsulfatase; GalN6S; GalNAc6S sulfatase; Galactose-6-sulfate sulfatase; N-acetylgalactosamine-6-sulfate sulfatase", "protein_names_refseq": "N-acetylgalactosamine-6-sulfatase isoform 1 precursor; N-acetylgalactosamine-6-sulfatase; N-acetylgalactosamine-6-sulfate sulfatase; chondroitinase; chondroitinsulfatase; galNAc6S sulfatase; galactosamine (N-acetyl)-6-sulfate sulfatase; galactose-6-sulfate sulfatase", "tax_id": 9606, "disease": "mucopolysaccharidosis IVA (Disease Ontology:DOID:0111391); mucopolysaccharidosis IV (Disease Ontology:DOID:12804); Morquio syndrome C (MONDO:MONDO:0009647)", "pathway": " (hsa:2588); (R-HSA-2022857); (R-HSA-2206290); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12721840;12888274;1463457;1522213;15309681;15647514;16287098;16959974;1755850;1794986;1907800;19159218;1928092;20232353;20574428;22940367;23090970;23650620;24190977;24715725;24726177;25287660;25880248;26992070;27846572;27862975;28159928;28904123;29437277;2971395;29741879;30429286;30760748;30927141;31020640;31217245;31844290;3196333;32157095;32350084;32488085;32938616;33298915;33392160;33592498;33717175;33912179;33968037;34171305;34387910;34472180;34509645;35051231;35212421;35251023;35561310;35580925;35729508;36241641;36284347;36292628;37074911;39894887;5822067;7213753;7581409;7633425;7668283;7795586;8001980;820716;8651279;8692836;8826435;9298823;9375852;9385378;9452036;9521421;9521684;9660054", "class_list": "glycogene", "function": "Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA., [RefSeq, PubMed]; Lysosomal enzyme that hydrolyzes sulfate groups from glycosaminoglycans (GAGs), keratan sulfate (KS) and chondroitin-6-sulfate (C6S)., [UniProtKB, PubMed]; Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants. Review article, [RefSeq, PubMed]; The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report., [RefSeq, PubMed]; This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1034, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 34, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q86VK3", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0043890 N-acetylgalactosamine-6-sulfatase activity;GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0003943 N-acetylgalactosamine-4-sulfatase activity;GO:0008484 sulfuric ester hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0070062 extracellular exosome;GO:0035578 azurophil granule lumen;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0030207 chondroitin sulfate proteoglycan catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P34059-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3D2-1", "uniprot_id": [ { "id": "EX3L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3D2", "type": "external" } ], "mass": 87480.0, "length": 802, "protein_name": "Exocyst complex component 3-like protein 2", "gene_name": "EXOC3L2", "organism": "Human", "refseq_name": "exocyst complex component 3-like protein 2", "refseq_ac": [ { "id": "NP_001369351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001369351", "type": "external" } ], "gene_names_uniprotkb": "EXOC3L2; XTP7", "gene_names_refseq": "BMRS; EXOC3L2; XTP7", "protein_names_uniprotkb": "Exocyst complex component 3-like protein 2; HBV X-transactivated gene 7 protein; HBV XAg-transactivated protein 7", "protein_names_refseq": "HBV X-transactivated gene 7 protein; HBV XAg-transactivated protein 7; exocyst complex component 3-like protein 2; protein 7 transactivated by hepatitis B virus X antigen (HBxAg)", "tax_id": 9606, "disease": "brain malformation renal syndrome (MONDO:MONDO:0975799)", "pathway": " (hsa:90332)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "20460622;21566143;22381399;23663385;27894351;28423615;28749478;30327448;30379171;34974531", "class_list": "", "function": "EXOC3L2 rs597668 variant is associated with Alzheimer's disease susceptibility., [RefSeq, PubMed]; Exoc3l2 silencing inhibits VEGF receptor 2 phosphorylation and VEGFA-directed migration of cultured endothelial cells., [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimer's disease. [provided by RefSeq, May 2017]., [RefSeq]; This meta-analysis assesses an association between rs597668 polymorphism in EXOC3L2 and Alzheimer's disease., [RefSeq, PubMed]; This study suggests that the rs597668 polymorphism near EXOC3L2 may not play a major role in the susceptibility to late-onset Alzheimer's disease in the Northern Han Chinese population., [RefSeq, PubMed]; We propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1C7CYX0;Q8N9W2;Q96GV2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000145 exocyst", "go_biological_process": "GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q2M3D2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43903-1", "uniprot_id": [ { "id": "GAS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43903", "type": "external" } ], "mass": 34945.0, "length": 313, "protein_name": "Growth arrest-specific protein 2", "gene_name": "GAS2", "organism": "Human", "refseq_name": "growth arrest-specific protein 2 isoform a", "refseq_ac": [ { "id": "NP_001137302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137302", "type": "external" } ], "gene_names_uniprotkb": "GAS2", "gene_names_refseq": "DFNB125; GAS-2; GAS2", "protein_names_uniprotkb": "Growth arrest-specific protein 2; GAS-2", "protein_names_refseq": "growth arrest-specific protein 2 isoform a; growth arrest-specific protein 2", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 125 (Disease Ontology:DOID:0061124); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:2620); (R-HSA-264870)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10469173;10564664;10823823;10891503;10899937;11237011;11423904;11689006;18669648;20166139;24275569;24706950;28904123;29557506;32265295;32488085;32572885;33103301;33964205;33968037;35051231;36054080;36241641;38956677;7489707;9323209;9521882;9624143;9930654", "class_list": "", "function": "A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family. Publication Status: Online-Only, [RefSeq, PubMed]; Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing., [RefSeq, PubMed]; Growth arrest-specific 2 protein family: Structure and function. Review article, [RefSeq, PubMed]; Growth arrest-specific protein 2 (GAS2) interacts with CXCR4 to promote T-cell leukemogenesis partially via c-MYC., [RefSeq, PubMed]; Required to maintain microtubule bundles in inner ear supporting cells, affording them with mechanical stiffness to transmit sound energy through the cochlea., [UniProtKB, UniProtKB]; The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]., [RefSeq]; UCHL1 enhances the malignant development of glioma via targeting GAS2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9C8;D3DQZ0;Q6ICV8;Q7Z3X8", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005884 actin filament;GO:0016020 membrane;GO:0001725 stress fiber", "go_biological_process": "GO:0006915 apoptotic process;GO:0008360 regulation of cell shape;GO:0051764 actin crosslink formation;GO:0051726 regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "O43903-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXC2-1", "uniprot_id": [ { "id": "GFOD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXC2", "type": "external" } ], "mass": 43158.0, "length": 390, "protein_name": "Glucose-fructose oxidoreductase domain-containing protein 1", "gene_name": "GFOD1", "organism": "Human", "refseq_name": "glucose-fructose oxidoreductase domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001229557", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229557", "type": "external" } ], "gene_names_uniprotkb": "GFOD1; C6orf114", "gene_names_refseq": "ADG-90; C6orf114; GFOD1", "protein_names_uniprotkb": "Glucose-fructose oxidoreductase domain-containing protein 1; Gfo/Idh/MocA-like oxidoreductase domain-containing protein 1", "protein_names_refseq": "gfo/Idh/MocA-like oxidoreductase domain-containing protein 1; glucose-fructose oxidoreductase domain containing 1; glucose-fructose oxidoreductase domain-containing protein 1 isoform 2; glucose-fructose oxidoreductase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54438); (R-HSA-9013406)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10490598;10967094;11185749;11237011;12242347;12456725;12773384;15546864;17214551;18821565;19258391;19713215;21454492;23255595;24297911;24355937;25678704;27191742;27481945;28832583;28904123;29557506;30683112;31844290;31871319;32161166;35051231;38946427;7721814;9857026", "class_list": "", "function": "Authors found the expression of peejar was positively correlated with the expression of GFOD1 in ccRCC tissue, with Pearson correlation coefficiency reaching 0.939 (p < 0.001). GFOD1 and peejar were novel genes correlated with ccRCC disease progression and patients' poor prognosis., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probably catalytically inactive enzyme. Does not bind NAD or NADP., [UniProtKB, PubMed]; Three overlapping genes (FGFBP2, GFOD1 and MLC1) between two modules could potentially have a role in acute myocardial infarction and have diagnostic potential 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": 2, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8E4L6;Q5T058;Q96JD4;Q9H5K2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9NXC2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P86478-1", "uniprot_id": [ { "id": "PR20E_HUMAN", "url": "https://www.uniprot.org/uniprot/P86478", "type": "external" } ], "mass": 23262.0, "length": 221, "protein_name": "Proline-rich protein 20E", "gene_name": "PRR20E", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRR20E", "gene_names_refseq": "", "protein_names_uniprotkb": "Proline-rich protein 20E", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:122183); (hsa:729233); (hsa:729240); (hsa:729246); (hsa:729250)", "pathway_count": 5, "publication_count": 1, "publication_id_list": "32387766", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N7V5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P86478-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VVW2-1", "uniprot_id": [ { "id": "GARL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VVW2", "type": "external" } ], "mass": 112852.0, "length": 1013, "protein_name": "GTPase-activating Rap/Ran-GAP domain-like protein 3", "gene_name": "GARNL3", "organism": "Human", "refseq_name": "GTPase-activating Rap/Ran-GAP domain-like protein 3 isoform b", "refseq_ac": [ { "id": "NP_001273708", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273708", "type": "external" } ], "gene_names_uniprotkb": "GARNL3", "gene_names_refseq": "GARNL3; bA356B19.1", "protein_names_uniprotkb": "GTPase-activating Rap/Ran-GAP domain-like protein 3", "protein_names_refseq": "GTPase activating RANGAP domain-like 3; GTPase-activating Rap/Ran-GAP domain-like protein 3 isoform b; GTPase-activating Rap/Ran-GAP domain-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84253)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11230166;11237011;28228285;28832583;29242379;30315122;30429286;31154438;31844290;31848261;32157095;32161166;32387766;32488085;32938616;35051231;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 24, "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": "B4DEP7;B7Z3Q6;Q8IYU1;Q8N951;Q8ND89;Q9BQH6", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5VVW2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2K1-1", "uniprot_id": [ { "id": "ZBTB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2K1", "type": "external" } ], "mass": 82016.0, "length": 713, "protein_name": "Zinc finger and BTB domain-containing protein 1", "gene_name": "ZBTB1", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001116801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116801", "type": "external" } ], "gene_names_uniprotkb": "ZBTB1; KIAA0997", "gene_names_refseq": "ZBTB1; ZNF909", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 1", "protein_names_refseq": "zinc finger and BTB domain-containing protein 1 isoform 1; zinc finger and BTB domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22890)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "11237011;18669648;20797634;21706167;22544926;22753936;24657165;25218447;25576301;25755297;25772364;25880248;26992070;28228285;28411811;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;29786170;30315122;30379171;30429286;30524438;30833945;31154438;31844290;31848261;32157095;32268116;32357974;32488085;32502341;32690611;32897882;32938616;32983136;33298915;33691108;33912179;33968037;33981976;34211107;34312970;34932366;35051231;35394175;35580925;37938771", "class_list": "", "function": "A novel tumor suppressor ZBTB1 regulates tamoxifen resistance and aerobic glycolysis through suppressing HER2 expression in breast cancer., [RefSeq, PubMed]; Acts as a transcriptional repressor (PubMed:20797634). Represses cAMP-responsive element (CRE)-mediated transcriptional activation (PubMed:21706167). In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis (PubMed:24657165). Plays a key role in the transcriptional regulation of T lymphocyte development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Acts as a transcriptional repressor. Represses cAMP-responsive element (CRE)-mediated transcriptional activation. In addition, has a role in translesion DNA synthesis. Requires for UV-inducible RAD18 loading, PCNA monoubiquitination, POLH recruitment to replication factories and efficient translesion DNA synthesis. Plays a key role in the transcriptional regulation of T lymphocyte development., [UniProtKB, UniProtKB]; Circ_0000442 functions as a tumor repressor in breast cancer by impacting miR-1229-3p and upregulating ZBTB1., [RefSeq, PubMed]; Preliminary analysis of the expression of ZBTB1 in human pancreatic carcinoma., [RefSeq, PubMed]; ZBTB1 Regulates Asparagine Synthesis and Leukemia Cell Response to L-Asparaginase., [RefSeq, PubMed]; ZBTB1 protein may act as a transcription repressor in the activation of CREB and cAMP-mediated signal transduction pathways 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K6S8;Q86SW8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0002711 positive regulation of T cell mediated immunity;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9Y2K1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEZ5-1", "uniprot_id": [ { "id": "FBX22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEZ5", "type": "external" } ], "mass": 44508.0, "length": 403, "protein_name": "F-box only protein 22", "gene_name": "FBXO22", "organism": "Human", "refseq_name": "F-box only protein 22 isoform b", "refseq_ac": [ { "id": "NP_036302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036302", "type": "external" } ], "gene_names_uniprotkb": "FBXO22; FBX22", "gene_names_refseq": "FBX22; FBXO22; FISTC1; TYMAS", "protein_names_uniprotkb": "F-box only protein 22; F-box protein FBX22p44", "protein_names_refseq": "F-box only protein 22 isoform b; F-box only protein 22; F-box protein FBX22p44; FIST domain containing 1", "tax_id": 9606, "disease": "Tayoun-Maawali syndrome (MONDO:MONDO:0976286)", "pathway": " (hsa:26263); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 212, "publication_id_list": "10531035;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18452278;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19608861;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21768309;21778237;21863050;21940857;22223895;22306028;22466964;22537386;22544926;2261476;22959436;22972877;23186163;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23783831;23912815;23986495;24076655;24366543;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;25892735;26154972;26344709;26460955;26632597;26728094;26868148;26906416;26992070;27030794;27222660;27565346;27600516;27846572;28115426;28228285;28510447;28514659;28832583;28834231;28904123;29153394;29242379;29393594;29493099;29557506;29632046;29769354;30315122;30379171;30524438;30610225;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32005965;32157095;32161166;32284348;32357974;32387766;32488085;32502341;32938616;33091337;33141586;33298915;33444648;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34185709;34405274;34509645;34725712;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37442264;37519006;37938771;37979583;38665916;38673728;39223933;39504958;40215970;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "E3 ubiquitin ligase FBXO22 inhibits SARS-CoV-2 replication via promoting proteasome-dependent degradation of NSP5., [RefSeq, PubMed]; ELK4 Promotes Cell Cycle Progression and Stem Cell-like Characteristics in HPV-associated Cervical Cancer by Regulating the FBXO22/PTEN Axis., [RefSeq, PubMed]; FBXO22 inhibits proliferation and metastasis of cervical cancer cells by mediating ubiquitination-dependent degradation of GAK., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that is implicated in the control of various cellular processes such as cell cycle control, transcriptional regulation, DNA damage repair, and apoptosis. Promotes the proteasome-dependent degradation of key sarcomeric proteins, such as alpha-actinin (ACTN2) and filamin-C (FLNC), essential for maintenance of normal contractile function. Acts as a key regulator of histone methylation marks namely H3K9 and H3K36 methylation through the regulation of histone demethylase KDM4A protein levels (PubMed:21768309). In complex with KDM4A, also regulates the abundance of TP53 by targeting methylated TP53 for degradation at the late senescent stage (PubMed:26868148). Under oxidative stress, promotes the ubiquitination and degradation of BACH1. Mechanistically, reactive oxygen species (ROS) covalently modify cysteine residues on the bZIP domain of BACH1, leading to its release from chromatin and making it accessible to FBXO22 (PubMed:39504958). Upon amino acid depletion, mediates 'Lys-27'-linked ubiquitination of MTOR and thereby inhibits substrate recruitment to mTORC1 (PubMed:37979583). Also inhibits SARS-CoV-2 replication by inducing NSP5 degradation (PubMed:39223933)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TANK Binding Kinase 1 Promotes BACH1 Degradation through Both Phosphorylation-Dependent and -Independent Mechanisms without Relying on Heme and FBXO22. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of 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 and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [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": 3, "reported_mutagensis": 1, "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": "Q0D2P8;Q6PIL5;Q8IXW3;Q9H824;Q9UKC0", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0030018 Z disc", "go_biological_process": "GO:0036211 protein modification process;GO:0048742 regulation of skeletal muscle fiber development;GO:0000209 protein polyubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q8NEZ5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22314-1", "uniprot_id": [ { "id": "UBA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P22314", "type": "external" } ], "mass": 117849.0, "length": 1058, "protein_name": "Ubiquitin-like modifier-activating enzyme 1", "gene_name": "UBA1", "organism": "Human", "refseq_name": "ubiquitin-like modifier-activating enzyme 1 isoform 1", "refseq_ac": [ { "id": "NP_003325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003325", "type": "external" } ], "gene_names_uniprotkb": "UBA1; A1S9T; UBE1", "gene_names_refseq": "A1S9T; A1S9; A1ST; AMCX1; CFAP124; GXP1; POC20; SMAX2; UBA1A; UBA1; UBE1X; UBE1; VEXAS", "protein_names_uniprotkb": "Ubiquitin-like modifier-activating enzyme 1; 6.2.1.45; Protein A1S9; Ubiquitin-activating enzyme E1", "protein_names_refseq": "A1S9T and BN75 temperature sensitivity complementing; POC20 centriolar protein homolog; UBA1, ubiquitin-activating enzyme E1 homolog A; testicular secretory protein Li 63; ubiquitin-like modifier-activating enzyme 1 isoform 1", "tax_id": 9606, "disease": "VEXAS syndrome (Disease Ontology:DOID:0080828); X-linked spinal muscular atrophy 2 (Disease Ontology:DOID:0111827)", "pathway": " (hsa:7317); (R-HSA-8866652); (R-HSA-983168); (R-HSA-9918485)", "pathway_count": 4, "publication_count": 211, "publication_id_list": "10.1101/2023.09.13.557529;11062501;11237011;11337487;11350924;12646216;12682107;1376922;1447181;14734113;15098107;15224091;15224092;15302935;15507651;15571818;15592455;15838506;1606621;16139798;16142244;16227972;16408927;16595681;16849449;16954532;16964243;17081983;17580310;17597759;18179898;18212344;18266465;18353650;18434435;18452278;18662542;18669648;19028597;19352404;19413330;19415658;19452197;19489725;19608861;19651622;19690332;19851334;1986373;19874575;19940261;20068231;21136679;21406692;22456334;2261476;22645359;22967762;23084921;23186163;23301498;23481700;23518311;23658209;2390975;24074594;24275569;24397554;24715725;25209502;25418920;25502872;25576301;25645385;25810538;25880248;25892735;26056282;26154972;26212330;26235645;26375851;26468529;26758079;26811146;26853435;26929215;26992070;27397612;27600516;27832191;27846572;27862975;27920218;28218747;28228285;28446606;28467828;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29314611;29351928;29393594;29437277;29493099;29508533;29557506;29605689;29610346;29632711;29742433;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30484775;30524438;30573663;30779550;30833945;31154438;31217245;31530632;31720911;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33108101;33123756;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34048852;34087483;34171305;34211107;34357683;34509645;34561969;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35318648;35494241;35561310;35580925;35705054;35793467;36010968;36215666;36241641;36284347;37217939;37938771;38225170;38360993;38665916;38687605;39183260;39534244;40596516;40914422;6277905;6305978;7528747;7673335;7724583;7851534;8010951;9099746;9380723;9521656;9668046;9931503", "class_list": "", "function": "A comprehensive prognostic and immune infiltration analysis of UBA1 in pan-cancer: A computational analysis and in vitro experiments., [RefSeq, PubMed]; Catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin-proteasome system (PubMed:1447181, PubMed:1606621, PubMed:33108101). Activates ubiquitin by first adenylating its C-terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP (PubMed:1447181). Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites (PubMed:22456334)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes., [RefSeq, PubMed]; Shared and distinct mechanisms of UBA1 inactivation across different diseases., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; VEXAS-Defining UBA1 Somatic Variants in 245,368 Diverse Individuals in the NIH All Of Us Cohort., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q5JRR8;Q96E13", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0004839 ubiquitin activating enzyme activity;GO:0008641 ubiquitin-like modifier activating enzyme activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006974 DNA damage response;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0032446 protein modification by small protein conjugation", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "P22314-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IPR1-1", "uniprot_id": [ { "id": "ETFR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IPR1", "type": "external" } ], "mass": 10864.0, "length": 90, "protein_name": "Electron transfer flavoprotein regulatory factor 1", "gene_name": "ETFRF1", "organism": "Human", "refseq_name": "electron transfer flavoprotein regulatory factor 1", "refseq_ac": [ { "id": "NP_001001660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001660", "type": "external" } ], "gene_names_uniprotkb": "ETFRF1; LYRM5", "gene_names_refseq": "ETFRF1; LYRM5", "protein_names_uniprotkb": "Electron transfer flavoprotein regulatory factor 1; LYR motif-containing protein 5", "protein_names_refseq": "LYR motif containing 5; LYR motif-containing protein 5; electron transfer flavoprotein regulatory factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:144363)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;20877624;22424782;24715725;25576301;26154972;27499296;28218747;29242379;29557506;29786170;30410026;31154438;32387766;32897882;32938616;33141586;33298915;33392160;33968037;34357683;34509645;35051231", "class_list": "", "function": "Acts as a regulator of the electron transfer flavoprotein by promoting the removal of flavin from the ETF holoenzyme (composed of ETFA and ETFB)., [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": "J3KPI7", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0090324 negative regulation of oxidative phosphorylation;GO:1901856 negative regulation of cellular respiration", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q6IPR1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14767-1", "uniprot_id": [ { "id": "LTBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14767", "type": "external" } ], "mass": 195052.0, "length": 1821, "protein_name": "Latent-transforming growth factor beta-binding protein 2", "gene_name": "LTBP2", "organism": "Human", "refseq_name": "latent-transforming growth factor beta-binding protein 2 precursor", "refseq_ac": [ { "id": "NP_000419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000419", "type": "external" } ], "gene_names_uniprotkb": "LTBP2; C14orf141; LTBP3", "gene_names_refseq": "C14orf141; GLC3D; LTBP2; LTBP3; MSPKA; MSTP031; WMS3", "protein_names_uniprotkb": "Latent-transforming growth factor beta-binding protein 2; LTBP-2", "protein_names_refseq": "LTBP-2; latent-transforming growth factor beta-binding protein 2 precursor", "tax_id": 9606, "disease": "Weill-Marchesani syndrome (Disease Ontology:DOID:0050475); primary congenital glaucoma (Disease Ontology:DOID:0050593); megalocornea (Disease Ontology:DOID:0060305); Weill-Marchesani syndrome 3 (Disease Ontology:DOID:0061275); dilated cardiomyopathy (Disease Ontology:DOID:12930); congestive heart failure (Disease Ontology:DOID:6000); microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MONDO:MONDO:0009633)", "pathway": " (hsa:4053); (R-HSA-2129379); (R-HSA-2173789)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10025398;10424889;10544250;10646116;10743502;10930463;11100470;11104663;11141505;11237011;11390472;11970960;12358597;12415008;12429738;12482908;1333888;1400330;14701737;15350224;15564041;1708799;17293099;17324935;18339631;18469808;19361779;19720988;20382221;20617341;20625381;21646718;22539340;23090970;23290524;23584533;24190977;25813380;26992070;27862975;29557506;29741879;29786170;30429286;30459171;31844290;32157095;32350084;32387766;32488085;32938616;34411563;35051231;35251023;35580925;36010968;36284347;37074911;37938771;38557215;38665916;38772353;39390437;7500359;7534784;7693660;7737999;7798248;8047140;8242743;8697098;8947046;8980228;9233797;9311995;9346966;9725916;9865696", "class_list": "", "function": "A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma., [RefSeq, PubMed]; Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2., [RefSeq, PubMed]; Integrated bioinformatics analysis and experimental validation on malignant progression and immune cell infiltration of LTBP2 in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; May play an integral structural role in elastic-fiber architectural organization and/or assembly., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 37, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 37, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 37, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 112, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 41, "disease_count": 7, "glyco_site_count": 46, "binding_glycan_count": 0, "secondary_ac_list": "Q99907;Q9NS51", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0019838 growth factor binding;GO:0005509 calcium ion binding;GO:0050436 microfibril binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0001527 microfibril", "go_biological_process": "GO:0006605 protein targeting;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0009306 protein secretion;GO:0097435 supramolecular fiber organization;GO:0071692 protein localization to extracellular region", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "Q14767-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q76MJ5-1", "uniprot_id": [ { "id": "ERN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q76MJ5", "type": "external" } ], "mass": 102480.0, "length": 926, "protein_name": "Serine/threonine-protein kinase/endoribonuclease IRE2", "gene_name": "ERN2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase/endoribonuclease IRE2 isoform b precursor", "refseq_ac": [ { "id": "NP_001295149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295149", "type": "external" } ], "gene_names_uniprotkb": "ERN2; IRE2", "gene_names_refseq": "ERN2; IRE1-BETA; IRE1b; IRE2p; hIRE2p", "protein_names_uniprotkb": "Serine/threonine-protein kinase/endoribonuclease IRE2; Endoplasmic reticulum-to-nucleus signaling 2; IRE1b; Inositol-requiring protein 2; Ire1-beta; hIRE2p", "protein_names_refseq": "ER to nucleus signalling 2; IRE1 beta; IRE1, S. cerevisiae, homolog of; endoplasmic reticulum to nucleus signalling 2; inositol-requiring 1 beta; inositol-requiring protein 2; serine/threonine-protein kinase/endoribonuclease IRE2 isoform b precursor; serine/threonine-protein kinase/endoribonuclease IRE2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10595)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11175748;11237011;16973740;17344846;18242182;23236464;23481700;27774654;28904123;29557506;30973754;31848261;31985747;32881299;33936100;34171305;35051231;36284347", "class_list": "", "function": "A positive feedback bistable ERN2-XBP1S pathway regulates MUC5B-dominated mucus obstruction in idiopathic pulmonary fibrosis (IPF), providing an unfolded protein response-dependent mechanism linking the MUC5B promoter rs35705950 polymorphism with IPF pathogenesis. Erratum:[Am J Respir Crit Care Med. 2019 Oct 15;200(8):1074. doi: 10.1164/rccm.v200erratum6. PMID: 31613152], [RefSeq, PubMed]; EEF1A2 and ERN2 could potentially discriminate metastatic status of mediastinal lymph node in lung adenocarcinomas harboring EGFR 19Del/L858R mutations., [RefSeq, PubMed]; ER stress-regulated IRE1 dependent decay is involved in regulation of hepatic diseases. (review) Review article, [RefSeq, PubMed]; IRE1beta acts as a dominant-negative suppressor of IRE1alpha and affect how barrier epithelial cells manage the response to stress at the host-environment interface., [RefSeq, PubMed]; Induces translational repression through 28S ribosomal RNA cleavage in response to ER stress. Pro-apoptotic. Appears to play no role in the unfolded-protein response, unlike closely related proteins., [UniProtKB, PubMed]; RNase domain of IRE1 determines the functional specificities of each of these isoforms., [RefSeq, PubMed]; The luminal event mediated by IRE1beta involves direct interaction with unfolded proteins rather than association/dissociation with BiP., [RefSeq, PubMed]; The structural, biochemical, and functional studies in vivo altogether demonstrate that IRE1 and PERK have conserved a common molecular interface necessary and sufficient for dimerization and unfolded protein response (UPR) signaling., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "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": "Q6ZNC0", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0016787 hydrolase activity;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:1990604 IRE1-TRAF2-ASK1 complex;GO:0005783 endoplasmic reticulum;GO:0044322 endoplasmic reticulum quality control compartment;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0006468 protein phosphorylation;GO:0036498 IRE1-mediated unfolded protein response;GO:0046330 positive regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q76MJ5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNN8-1", "uniprot_id": [ { "id": "EPCR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNN8", "type": "external" } ], "mass": 26671.0, "length": 238, "protein_name": "Endothelial protein C receptor", "gene_name": "PROCR", "organism": "Human", "refseq_name": "endothelial protein C receptor precursor", "refseq_ac": [ { "id": "NP_006395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006395", "type": "external" } ], "gene_names_uniprotkb": "PROCR; EPCR", "gene_names_refseq": "CCCA; CCD41; EPCR; PROCR", "protein_names_uniprotkb": "Endothelial protein C receptor; APC receptor; Activated protein C receptor; Endothelial cell protein C receptor", "protein_names_refseq": "APC receptor; CD201 antigen; activated protein C receptor; cell cycle, centrosome-associated protein; centrocyclin; endothelial protein C receptor precursor; protein C receptor, endothelial", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); carotid stenosis (Disease Ontology:DOID:13001); acute kidney failure (Disease Ontology:DOID:3021)", "pathway": " (hsa:10544); (R-HSA-202733); (R-HSA-9769739)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10.1101/2023.09.13.557529;10026158;10397730;10570964;10606205;10681599;10764623;11035113;11207550;11237011;11238108;11256994;11564780;11779189;11812992;11833835;12034704;12052963;12070135;12208882;12469115;12782713;12907439;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16161994;1618828;16258728;16297198;16585556;16619025;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17506785;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;1902833;19279206;19297154;1930190;20427285;21193412;21659548;21932952;22144186;22618708;2271516;22786881;23683607;2384594;23945545;24043627;24554904;24764293;2538457;25713144;25855704;29391424;29419409;30918026;31262782;31439947;32157095;32350084;32938616;33214551;34019948;34087483;35251023;36241641;36523147;36775045;36951953;37074911;37108071;37228024;3744129;37726033;3863104;468991;6323392;7499257;7509040;7521878;7929370;8144529;8163559;8166770;8314844;8639781;9052782;9169774;9218519;9242610;9295288;9382878;9459334;9469622;9693095;9763524", "class_list": "", "function": "Binds activated protein C. Enhances protein C activation by the thrombin-thrombomodulin complex; plays a role in the protein C pathway controlling blood coagulation., [UniProtKB, UniProtKB, UniProtKB]; EPCR deficiency ameliorates inflammatory arthritis in mice by suppressing the activation and migration of T cells and dendritic cells., [RefSeq, PubMed]; Genetic variant of endothelial protein C receptor genes and its serum level in B thalassemic children., [RefSeq, PubMed]; Microvascular Environment Influences Brain Microvascular Heterogeneity: Relative Roles of Astrocytes and Oligodendrocytes for the EPCR Expression in the Brain Endothelium. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and genomic analysis of single nucleotide polymorphisms in human host factor endothelial protein C receptor (EPCR) reveals complex interplay with malaria parasites., [RefSeq, PubMed]; The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RC04;Q14218;Q6IB56;Q96CB3;Q9ULX1", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005813 centrosome;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0007596 blood coagulation;GO:0050819 negative regulation of coagulation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9UNN8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWR7-1", "uniprot_id": [ { "id": "ENPP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWR7", "type": "external" } ], "mass": 50241.0, "length": 440, "protein_name": "Glycerophosphocholine cholinephosphodiesterase ENPP6", "gene_name": "ENPP6", "organism": "Human", "refseq_name": "glycerophosphocholine cholinephosphodiesterase ENPP6 precursor", "refseq_ac": [ { "id": "NP_699174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699174", "type": "external" } ], "gene_names_uniprotkb": "ENPP6; PRO4334", "gene_names_refseq": "ENPP6; NPP6", "protein_names_uniprotkb": "Glycerophosphocholine cholinephosphodiesterase ENPP6; 3.1.4.-; 3.1.4.38; Choline-specific glycerophosphodiester phosphodiesterase; E-NPP 6; Ectonucleotide pyrophosphatase/phosphodiesterase family member 6; GPC-Cpde; NPP-6", "protein_names_refseq": "B830047L21Rik; E-NPP 6; GPC-Cpde; NPP-6; choline-specific glycerophosphodiester phosphodiesterase; ectonucleotide pyrophosphatase/phosphodiesterase family member 6; glycerophosphocholine cholinephosphodiesterase ENPP6 precursor; glycerophosphocholine cholinephosphodiesterase ENPP6", "tax_id": 9606, "disease": "", "pathway": " (hsa:133121); (R-HSA-6814848)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10760272;11237011;12514188;12576545;12975309;15044461;15788404;16472945;16799181;17015841;18086666;18667693;23161088;25528375;28218747;28832583;28904123;29242379;29437277;30410026;30429286;31154438;31848261;32983136;35051231", "class_list": "", "function": "Choline-specific glycerophosphodiesterase that hydrolyzes glycerophosphocholine (GPC) and lysophosphatidylcholine (LPC) and contributes to supplying choline to the cells (PubMed:15788404). Has a preference for LPC with short (12:0 and 14:0) or polyunsaturated (18:2 and 20:4) fatty acids. In vitro, hydrolyzes only choline-containing lysophospholipids, such as sphingosylphosphorylcholine (SPC), platelet-activating factor (PAF) and lysoPAF, but not other lysophospholipids (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; NPP6 has a specific role through the hydrolysis of polyunsaturated LPC, glycerophosphorylcholine, or sphingosylphosphorylcholine in kidney and brain, [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5Q1;Q96M57", "ec_number_list": [ { "id": "3.1.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.12", "type": "external" }, { "id": "3.1.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.38", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0047390 glycerophosphocholine cholinephosphodiesterase activity;GO:0046872 metal ion binding;GO:0008081 phosphoric diester hydrolase activity;GO:0008889 glycerophosphodiester phosphodiesterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0098552 side of membrane", "go_biological_process": "GO:0019695 choline metabolic process;GO:0006629 lipid metabolic process;GO:0046475 glycerophospholipid catabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q6UWR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KR6-1", "uniprot_id": [ { "id": "MIMS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KR6", "type": "external" } ], "mass": 20424.0, "length": 192, "protein_name": "Mitochondrial inner membrane scaffold 2", "gene_name": "MIMS2", "organism": "Human", "refseq_name": "protein FAM210B, mitochondrial", "refseq_ac": [ { "id": "NP_543011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543011", "type": "external" } ], "gene_names_uniprotkb": "MIMS2; C20orf108; FAM210B; PSEC0265", "gene_names_refseq": "5A3; C20orf108; FAM210B; MIMS2; dJ1167H4.1", "protein_names_uniprotkb": "Mitochondrial inner membrane scaffold 2; Protein FAM210B, mitochondrial", "protein_names_refseq": "family with sequence similarity 210 member B; protein FAM210B, mitochondrial; transmembrane protein C20orf108", "tax_id": 9606, "disease": "systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:116151)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;16303743;19064572;23783831;26968549;28594398;28832583;29242379;29557506;29786170;30429286;31154438;31844290;31848261;32157095;32488085;33968037;34171305;35051231;35580925;36241641;36284347;36374104;38436771;39198940", "class_list": "", "function": "Both human and murine FAM210B are abundantly expressed in the later stages of erythroblast development. Moreover, the deduced amino acid sequence predicted that FAM210B is a membrane protein, and Western blot analysis demonstrated its mitochondrial localization. Loss-of-function analysis in erythroid cells suggested that FAM210B may be involved in erythroid differentiation., [RefSeq, PubMed]; Elucidation of the Role of FAM210B in Mitochondrial Metabolism and Erythropoiesis., [RefSeq, PubMed]; It was found that low expression of FAM210B was significantly correlated with decreased survival and enhanced metastasis in vivo and in vitro, and the loss of FAM210B led to an increased mitochondrial respiratory capacity and reduced glycolysis through the downregulation of pyruvate dehydrogenase kinase 4 (PDK4). Erratum:[Cell Death Dis. 2019 Sep 23;10(10):707. doi: 10.1038/s41419-019-1945-y. PMID: 31548594] Publication Status: Online-Only, [RefSeq, PubMed]; Mendelian randomization study on causal association of FAM210B with drug-induced lupus., [RefSeq, PubMed]; Mitochondrial inner membrane adapter protein essential for terminal erythroid differentiation and heme biosynthesis (PubMed:26968549, PubMed:28594398). Facilitates formation of an oligomeric mitochondrial iron transport complex required for iron acquisition during heme synthesis, although it does not function as a direct iron transporter (By similarity). Directly interacts with terminal heme synthesis enzymes PPOX and FECH to enhance ferrochelatase activity and couple iron import with heme synthesis (By similarity). Regulates mitochondrial energy metabolism through interaction with ATP synthase subunits (PubMed:36374104)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Multifaceted role of FAM210B in hepatocellular carcinoma: Implications for tumour progression, microenvironment modulation and therapeutic selection., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B2RBQ9;E1P5Y7;Q8WVN2;Q9BYL6;Q9H418", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0016020 membrane", "go_biological_process": "GO:0043249 erythrocyte maturation;GO:0045648 positive regulation of erythrocyte differentiation;GO:0071392 cellular response to estradiol stimulus", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96KR6-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YB8-1", "uniprot_id": [ { "id": "ERO1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YB8", "type": "external" } ], "mass": 53543.0, "length": 467, "protein_name": "ERO1-like protein beta", "gene_name": "ERO1B", "organism": "Human", "refseq_name": "ERO1-like protein beta precursor", "refseq_ac": [ { "id": "NP_063944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063944", "type": "external" } ], "gene_names_uniprotkb": "ERO1B; ERO1LB", "gene_names_refseq": "ERO1B; ERO1LB; Ero1beta", "protein_names_uniprotkb": "ERO1-like protein beta; 1.8.3.2; ERO1-L-beta; Endoplasmic reticulum oxidoreductase beta; Endoplasmic reticulum oxidoreductin-1-like protein B; Oxidoreductin-1-L-beta", "protein_names_refseq": "ERO1-L-beta; ERO1-like beta; ERO1-like protein beta precursor; ERO1-like protein beta; endoplasmic oxidoreductin-1-like protein B; endoplasmic reticulum oxidoreductase beta; endoplasmic reticulum oxidoreductin-1-like protein B; oxidoreductin-1-L-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:56605); (R-HSA-264876)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;10521251;10818100;11237011;11462236;11493706;11707400;11847130;11904301;12752442;14617756;14704853;15161913;1528899;15331542;15878854;16012172;16158220;16158222;16263699;16407158;16714477;16984975;20308425;21091435;21145486;21308844;21713314;23090970;24190977;25091901;2669954;26765469;27919037;28177904;28218747;2822027;29437277;29741879;30315122;31029032;31184304;32350084;32502341;32723473;33485965;34171305;34357683;35051231;37074911;3896518;7626024;8916141;9166668;9207799;9631292", "class_list": "", "function": "GJB2 and ERO1LB are implicated in pancreatic cancer progression and can be used to predict patient survival, [RefSeq, PubMed]; Glutathione limits Ero1-dependent oxidation in the endoplasmic reticulum, [RefSeq, PubMed]; In the present work, it was shown that recombinant human Ero1beta is twice as active as Ero1alpha in enzymatic assays., [RefSeq, PubMed]; Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis., [UniProtKB, PubMed, PubMed]; Pharmacologic inhibition or knock-down of downstream targets of ATF6a, protein disulfide isomerases (PDI) and ERO1b, a thiol oxidase that is involved in the re-oxidation of PDIs also independently induced pronounced killing of osteosarcoma (OS) cells following chemotherapy., [RefSeq, PubMed]; This peptide, Ac-VDTTD-AFC, was efficiently cleaved by purified caspase-2 and auto-activating caspase-2 in mammalian cells, and exhibited better selectivity for caspase-2 relative to caspase-3 than reagents that are currently available. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulated in pancreatic neuroendocrine tumors, [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": 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": 7, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 8768, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DF57;Q5T1H4;Q8IZ11;Q9NR62", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" } ], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0071949 FAD binding;GO:0016491 oxidoreductase activity;GO:0015035 protein-disulfide reductase activity;GO:0016971 flavin-dependent sulfhydryl oxidase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006457 protein folding;GO:0034975 protein folding in endoplasmic reticulum;GO:0030070 insulin processing", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q86YB8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWN6-1", "uniprot_id": [ { "id": "F223A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWN6", "type": "external" } ], "mass": 13808.0, "length": 122, "protein_name": "Protein FAM223A", "gene_name": "FAM223A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM223A; CXorf52; LINC00204A; NCRNA00204", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM223A; SPCX", "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": "Q8IWN6-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYD1-1", "uniprot_id": [ { "id": "ERF3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYD1", "type": "external" } ], "mass": 68883.0, "length": 628, "protein_name": "Eukaryotic peptide chain release factor GTP-binding subunit ERF3B", "gene_name": "GSPT2", "organism": "Human", "refseq_name": "eukaryotic peptide chain release factor GTP-binding subunit ERF3B", "refseq_ac": [ { "id": "NP_060564", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060564", "type": "external" } ], "gene_names_uniprotkb": "GSPT2; ERF3B", "gene_names_refseq": "ERF3B; GSPT2; GST2", "protein_names_uniprotkb": "Eukaryotic peptide chain release factor GTP-binding subunit ERF3B; 3.6.5.-; Eukaryotic peptide chain release factor subunit 3b; G1 to S phase transition protein 2 homolog; eRF3b", "protein_names_refseq": "eukaryotic peptide chain release factor GTP-binding subunit ERF3B; eukaryotic peptide chain release factor subunit 3b", "tax_id": 9606, "disease": "", "pathway": " (hsa:23708); (R-HSA-72764); (R-HSA-9010553); (R-HSA-975956); (R-HSA-975957)", "pathway_count": 5, "publication_count": 95, "publication_id_list": "10358005;11331269;11524954;11532962;11544179;11546874;11551508;12417715;12554878;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15721257;15987998;16186820;16209946;16284618;16452507;16601204;16622410;16721809;17053788;17352659;17363904;17562865;17803942;17893241;18066079;18230761;18256688;18423202;18447580;18447585;18524595;18539146;1861871;18657639;18974281;19060897;19150429;19359157;19417104;19478851;19503078;19556969;19706539;19859661;19909264;20023408;2006156;20418951;20479275;20691628;20817927;20930030;21029861;21145460;21419344;23085078;23217742;23234702;23746841;24715725;25242263;27600516;28228285;28414775;28832583;28904123;29437277;29493099;29557506;30272252;30379171;30429286;31217245;31373491;31844290;32502341;32938616;33298915;33537174;33592498;33968037;34087483;34171305;35132862;40914422;7990965;9712840", "class_list": "", "function": "ERF3b can substitute for eRF3a in its translation termination function., [RefSeq, PubMed]; ERF3b37 is thought to serve a role in hepatic stellate cells by inhibiting TGFbeta signaling., [RefSeq, PubMed]; GTPase component of the eRF1-eRF3-GTP ternary complex, a ternary complex that mediates translation termination in response to the termination codons UAA, UAG and UGA (PubMed:11524954, PubMed:15987998, PubMed:17562865). GSPT2/ERF3B mediates ETF1/ERF1 delivery to stop codons: The eRF1-eRF3-GTP complex binds to a stop codon in the ribosomal A-site (PubMed:15987998). GTP hydrolysis by GSPT2/ERF3B induces a conformational change that leads to its dissociation, permitting ETF1/ERF1 to accommodate fully in the A-site (PubMed:15987998). Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "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": "Q9H909;Q9NVY0;Q9NY44", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003747 translation release factor activity", "go_cellular_component": "GO:0018444 translation release factor complex;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006415 translational termination;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q8IYD1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYW4-1", "uniprot_id": [ { "id": "ENTD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYW4", "type": "external" } ], "mass": 67538.0, "length": 607, "protein_name": "ENTH domain-containing protein 1", "gene_name": "ENTHD1", "organism": "Human", "refseq_name": "ENTH domain-containing protein 1", "refseq_ac": [ { "id": "NP_689725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689725", "type": "external" } ], "gene_names_uniprotkb": "ENTHD1", "gene_names_refseq": "ENTHD1; dJ370M22.3", "protein_names_uniprotkb": "ENTH domain-containing protein 1; Epsin-2B", "protein_names_refseq": "ENTH domain-containing protein 1; dJ370M22.3 (EPSIN 2B); epsin-2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:150350)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "20237496;27600516;27893789;28228285;29557506;30315122;31324691;31844290;32983136", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0QYD5;Q5H9F7;Q96LK3", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0030276 clathrin binding", "go_cellular_component": "GO:0030125 clathrin vesicle coat;GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8IYW4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N336-1", "uniprot_id": [ { "id": "ELMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N336", "type": "external" } ], "mass": 39052.0, "length": 334, "protein_name": "ELMO domain-containing protein 1", "gene_name": "ELMOD1", "organism": "Human", "refseq_name": "ELMO domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001123509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123509", "type": "external" } ], "gene_names_uniprotkb": "ELMOD1", "gene_names_refseq": "ELMOD1", "protein_names_uniprotkb": "ELMO domain-containing protein 1", "protein_names_refseq": "ELMO domain-containing protein 1 isoform 2; ELMO domain-containing protein 1; ELMO/CED-12 domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55531)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;17452337;19913121;20628086;20677014;24616099;28600358;31327155", "class_list": "", "function": "Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family., [UniProtKB, PubMed]; Data suggest that GPR124 promotes cell adhesion via interaction with Elmo1-Dock180 and intersectin 1/2; this constitutes a previously unrecognized heteromeric complex that is putatively involved in GPR124-dependent adhesive/angiogenic responses in vascular endothelial cells. (GPR124 = G-protein coupled receptor 124; Elmo1 = ELMO domain-containing protein 1; Dock180 = dedicator of cytokinesis protein 1 180 kDa), [RefSeq, PubMed]; ELMOD1 mutation segregates with intellectual disability and autism spectrum disorder in Iranian family., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B4E167;G5E9S5;Q9NPW3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005794 Golgi apparatus;GO:0005929 cilium;GO:0045202 synapse", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8N336-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7L0-1", "uniprot_id": [ { "id": "F216B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7L0", "type": "external" } ], "mass": 16362.0, "length": 139, "protein_name": "Protein FAM216B", "gene_name": "FAM216B", "organism": "Human", "refseq_name": "protein FAM216B", "refseq_ac": [ { "id": "NP_001305861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305861", "type": "external" } ], "gene_names_uniprotkb": "FAM216B; C13orf30", "gene_names_refseq": "C13orf30; FAM216B", "protein_names_uniprotkb": "Protein FAM216B", "protein_names_refseq": "protein FAM216B", "tax_id": 9606, "disease": "", "pathway": " (hsa:144809)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "35051231;36215666;37486510", "class_list": "", "function": "Meta-analysis of Transcriptomic Data from Lung Autopsy and Cellular Models of SARS-CoV-2 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": 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": "B1ALI3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N7L0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92731-1", "uniprot_id": [ { "id": "ESR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92731", "type": "external" } ], "mass": 59216.0, "length": 530, "protein_name": "Estrogen receptor beta", "gene_name": "ESR2", "organism": "Human", "refseq_name": "estrogen receptor beta isoform 2", "refseq_ac": [ { "id": "NP_001035365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035365", "type": "external" } ], "gene_names_uniprotkb": "ESR2; ESTRB; NR3A2", "gene_names_refseq": "ER-BETA; ESR-BETA; ESR2; ESRB; ESTRB; Erb; NR3A2; ODG8", "protein_names_uniprotkb": "Estrogen receptor beta; ER-beta; Nuclear receptor subfamily 3 group A member 2", "protein_names_refseq": "estrogen receptor beta 2; estrogen receptor beta 4; estrogen receptor beta isoform 2; nuclear receptor subfamily 3 group A member 2; oestrogen receptor beta", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); ovarian dysgenesis 8 (Disease Ontology:DOID:0080500); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); hypospadias (Disease Ontology:DOID:10892); urinary bladder cancer (Disease Ontology:DOID:11054); osteoporosis (Disease Ontology:DOID:11476); Graves' disease (Disease Ontology:DOID:12361); Parkinson's disease (Disease Ontology:DOID:14330); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); cystitis (Disease Ontology:DOID:1679); aortic valve stenosis (Disease Ontology:DOID:1712); melanoma (Disease Ontology:DOID:1909); anxiety disorder (Disease Ontology:DOID:2030); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); asthma (Disease Ontology:DOID:2841); coronary artery disease (Disease Ontology:DOID:3393); systemic scleroderma (Disease Ontology:DOID:418); myasthenia gravis (Disease Ontology:DOID:437); pulmonary hypertension (Disease Ontology:DOID:6432); adenoma (Disease Ontology:DOID:657); rheumatoid arthritis (Disease Ontology:DOID:7148); peritonitis (Disease Ontology:DOID:8283); osteoarthritis (Disease Ontology:DOID:8398); ulcerative colitis (Disease Ontology:DOID:8577); prostate carcinoma in situ (Disease Ontology:DOID:8634); in situ carcinoma (Disease Ontology:DOID:8719); Crohn's disease (Disease Ontology:DOID:8778); systemic lupus erythematosus (Disease Ontology:DOID:9074); colorectal cancer (Disease Ontology:DOID:9256); alopecia (Disease Ontology:DOID:987); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2100); (R-HSA-1257604); (R-HSA-2219530); (R-HSA-383280); (R-HSA-6811558); (R-HSA-8939211); (R-HSA-9009391)", "pathway_count": 7, "publication_count": 227, "publication_id_list": "10191262;10207098;10230404;10235266;10319328;10427092;10485477;10542397;10588810;10681503;10749889;10806474;10822011;10964723;11029009;11029403;11043579;11044445;11113208;11147812;11150164;11162936;11185956;11237011;11250728;11369763;11478682;11579095;11689445;11773442;11773443;11795466;11803464;11825873;11865025;11981029;12039952;12048194;12118371;12167717;12388769;12415108;12421825;12431978;12511868;12588983;12672240;12682286;12767043;12808053;12881510;12943986;1325671;1378832;14605097;14759258;14764897;15033483;15044318;15047147;15090535;15094156;15175151;15199063;15231873;15314172;15467163;15496458;15569929;15657067;15705661;15718470;15834429;15862947;15896744;15956360;16239258;16274718;16339315;16456541;16636149;16645038;16647110;16751179;16809759;16835357;16938840;17037979;17200115;1720327;1730655;17424910;17525128;17535799;17615152;17626883;17873880;17916740;17921256;18079394;18206197;18317450;18451092;18594509;18606717;18657504;18754654;18755892;18829560;18925875;19126643;19138696;19185485;19274700;19411071;19576174;19584281;19644473;19805105;19879889;19962665;20074560;20231295;20338997;20353944;20379036;20439495;20522708;20650261;20696772;20713702;20861220;20920096;21188471;21317208;21368164;21478295;21668414;21680538;21827948;21851428;21976531;21984976;22028449;22031296;22120714;22188813;22266855;22370157;22393957;22446104;22588880;22802530;22930062;23375374;23403292;23481700;23684889;23806560;23850489;24039841;24071518;24288332;24530924;24960160;25303530;25500870;25587652;25597633;25892735;26153859;26610607;27288742;28539435;29261182;29738483;29769354;30113650;3167974;31844290;33717175;33968037;35051231;38318796;38340326;38649856;39467629;6201744;7526779;7637810;7689695;7744773;7750475;7784095;7892243;7906860;7984152;8180109;8221895;8232319;8327492;8641283;8645157;8657148;8769313;8782602;8876252;9048584;9115298;9173876;9183567;9267036;9295332;9325313;9346945;9395517;9473491;9565625;9616126;9636657;9653119;9671811;9685228;9707442;9736715;9817749;9895304", "class_list": "", "function": "25-hydroxycholesterol promotes proliferation and metastasis of lung adenocarcinoma cells by regulating ERbeta/TNFRSF17 axis. Publication Status: Online-Only, [RefSeq, PubMed]; AURKA Enhances the Glycolysis and Development of Ovarian Endometriosis Through ERbeta., [RefSeq, PubMed]; Allelic variants of the estrogen receptor genes and frailty phenotype in postmenopausal women., [RefSeq, PubMed]; Data demonstrate that two alternative ERbeta 5'UTRs have potent and differential influences on expression acting at the level of translation., [RefSeq, PubMed]; GULP1 as a Downstream Effector of the Estrogen Receptor-beta Modulates Cisplatin Sensitivity in Bladder Cancer., [RefSeq, PubMed]; Lacks ligand binding ability and has no or only very low ERE binding activity resulting in the loss of ligand-dependent transactivation ability., [UniProtKB, PubMed]; Nuclear hormone receptor. Binds estrogens with an affinity similar to that of ESR1/ER-alpha, and activates expression of reporter genes containing estrogen response elements (ERE) in an estrogen-dependent manner (PubMed:20074560)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Whereas the expression of ERbeta1 is controlled predominantly by transcriptional regulation in prostate cancer, expression of ERbeta2 and 5 is tightly regulated at both transcriptional and post-transcriptional levels., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 40, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8K5;G3V5M5;O60608;O60685;O60702;O60703;O75583;O75584;Q0MWT5;Q0MWT6;Q86Z31;Q9UEV6;Q9UHD3;Q9UQK9", "ec_number_list": [], "go_molecular_function": "GO:0034056 estrogen response element binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0048019 receptor antagonist activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;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:0007165 signal transduction;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q92731-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PL5-1", "uniprot_id": [ { "id": "ERMAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PL5", "type": "external" } ], "mass": 52605.0, "length": 475, "protein_name": "Erythroid membrane-associated protein", "gene_name": "ERMAP", "organism": "Human", "refseq_name": "erythroid membrane-associated protein precursor", "refseq_ac": [ { "id": "NP_001017922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017922", "type": "external" } ], "gene_names_uniprotkb": "ERMAP; RD; SC", "gene_names_refseq": "BTN5; ERMAP; PRO2801; RD; SC", "protein_names_uniprotkb": "Erythroid membrane-associated protein; Radin blood group antigen; Scianna blood group antigen; hERMAP", "protein_names_refseq": "Radin blood group (Rd); Scianna blood group (Sc); erythroid membrane-associated protein precursor; erythroid membrane-associated protein; radin blood group antigen; scianna blood group antigen", "tax_id": 9606, "disease": "obsolete blood group--scianna system (MONDO:MONDO:0020621); obsolete radin blood group antigen (MONDO:MONDO:0044223)", "pathway": " (hsa:114625)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11549310;11783959;12393480;15660834;16371048;19651622;24094239;25582271;28904123;31844290;32620788;32938616;34357683;35051231;37813965;39894887", "class_list": "", "function": "A human cDNA and gene encoding for human ERMAP is cloned and characterized. The protein is sequenced and its expression analyzed., [RefSeq, PubMed]; DNA sequencing demonstrates Scianna antigens including Rd are expressed by ERMAP., [RefSeq, PubMed]; ERMAP is a B7 family-related molecule that negatively regulates T cell and macrophage responses., [RefSeq, PubMed]; ERMAP, a unique member of the B30.2 domain protein family, is expressed in erythroid cells in fetal liver, adult bone marrow, reticulocytes and in circulating erythroblasts in 8-12-week fetal cord blood., [RefSeq, PubMed]; Possible role as a cell-adhesion or receptor molecule of erythroid cells., [UniProtKB]; The five known probands with the SC*994C>T silencing nucleotide change were from the Pacific Islands., [RefSeq, PubMed]; The ligation between ERMAP, galectin-9 and dectin-2 promotes Kupffer cell phagocytosis and antitumor immunity., [RefSeq, PubMed]; The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Through molecular genotyping we also identified polymorphisms in RhCE, Kell, Duffy, Colton, Lutheran and Scianna loci in donors and 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DPW8;Q5VV53;Q6DUE0;Q7Z3X0;Q8NCV8;Q8NCW2;Q8NCW3;Q96PL6", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96PL5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BS26-1", "uniprot_id": [ { "id": "ERP44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BS26", "type": "external" } ], "mass": 46971.0, "length": 406, "protein_name": "Endoplasmic reticulum resident protein 44", "gene_name": "ERP44", "organism": "Human", "refseq_name": "endoplasmic reticulum resident protein 44 precursor", "refseq_ac": [ { "id": "NP_055866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055866", "type": "external" } ], "gene_names_uniprotkb": "ERP44; KIAA0573; PRO1075; TXNDC4", "gene_names_refseq": "ERP44; PDIA10; TXNDC4", "protein_names_uniprotkb": "Endoplasmic reticulum resident protein 44; ER protein 44; ERp44; Thioredoxin domain-containing protein 4", "protein_names_refseq": "ER protein 44; endoplasmic reticulum resident protein 44 kDa; endoplasmic reticulum resident protein 44 precursor; epididymis secretory sperm binding protein; protein disulfide isomerase family A, member 10; thioredoxin domain containing 4 (endoplasmic reticulum); thioredoxin domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:23071); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 104, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;11847130;11921445;12975309;14517240;15652484;18552768;21654843;22661428;23584533;23650620;24715725;25548167;25576301;25645385;25813380;25892735;26154972;26853435;26992070;27114449;27452731;27600516;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28832583;28855257;28904123;29242379;29314611;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29858230;30315122;30429286;30459171;30573663;31154438;31217245;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32250737;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34105348;34171305;34185709;34211107;34229054;34493236;34561969;34719307;34932366;34957576;35051231;35132862;35154160;35251023;35318648;35580925;36240223;36284347;37938771;38665916;39534244;40307207;40596516;40914422;8692836", "class_list": "", "function": "Biogenesis of secretory immunoglobulin M requires intermediate non-native disulfide bonds and engagement of the protein disulfide isomerase ERp44., [RefSeq, PubMed]; Contains a thioredoxin domain with a CRFS motif and is induced during ER stress, [RefSeq, PubMed]; Exosomal ERp44 derived from ER-stressed cells strengthens cisplatin resistance of nasopharyngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif (PubMed:11847130, PubMed:14517240). Inhibits the calcium channel activity of ITPR1 (PubMed:15652484). May have a role in the control of oxidative protein folding in the endoplasmic reticulum (PubMed:11847130, PubMed:14517240, PubMed:29858230). Required to retain ERO1A and ERO1B in the endoplasmic reticulum (PubMed:11847130, PubMed:29858230)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Protein tyrosine phosphatase receptor type O (PTPRO) knockdown enhances the proliferative, invasive and angiogenic activities of trophoblast cells by suppressing ER resident protein 44 (ERp44) expression in preeclampsia., [RefSeq, PubMed]; The regulatory network of lncRNA DLX6-AS1/miR-149-5p/ERP44 is possibly related to the progression of preeclampsia., [RefSeq, PubMed]; This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O60319;Q4VXC1;Q5VWZ7;Q6UW14;Q8WX67", "ec_number_list": [], "go_molecular_function": "GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006457 protein folding;GO:0045454 cell redox homeostasis;GO:0034976 response to endoplasmic reticulum stress;GO:0009100 glycoprotein metabolic process;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q9BS26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2F5-1", "uniprot_id": [ { "id": "EPC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2F5", "type": "external" } ], "mass": 93463.0, "length": 836, "protein_name": "Enhancer of polycomb homolog 1", "gene_name": "EPC1", "organism": "Human", "refseq_name": "enhancer of polycomb homolog 1 isoform b", "refseq_ac": [ { "id": "NP_001258933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258933", "type": "external" } ], "gene_names_uniprotkb": "EPC1", "gene_names_refseq": "EPC1; Epl1", "protein_names_uniprotkb": "Enhancer of polycomb homolog 1", "protein_names_refseq": "enhancer of polycomb homolog 1 isoform b; enhancer of polycomb homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80314); (R-HSA-3214847); (R-HSA-8953750)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10786633;10821277;10976108;11171983;11237011;12004135;12909625;12963728;14966270;15014447;15196461;15313887;15536069;16387653;16964243;17001316;17600109;18381289;18452278;18562691;18623064;18669648;19187765;19413330;20018852;21596310;23186163;23954429;24627085;24714562;25576301;25645385;25787250;26992070;27153538;27920218;28657654;28832583;28834231;29242379;29351928;29393594;29508533;29557506;29786170;30059200;30379171;30429286;30833945;31154438;31217245;31844290;31848261;32157095;32209463;32357974;32488085;32502341;32983136;33298915;33537174;33592498;33981976;34171305;34185709;34846842;34932366;35051231;35254053;35289036;35318648;35561310;35580925;35705054;36010968;36158885;37340703;37938771;38665916;39531497;40307207;40596516;7623816;9427644;9501179;9558366;9689056;9704927;9880483", "class_list": "", "function": "Component of the NuA4 histone acetyltransferase (HAT) complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (PubMed:14966270). The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR) (PubMed:27153538). The NuA4 complex is also required for spermatid development by promoting acetylation of histones: histone acetylation is required for histone replacement during the transition from round to elongating spermatids (By similarity). In the NuA4 complex, EPC1 is required to recruit MBTD1 into the complex (PubMed:32209463)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Multiomics Integrative Analysis Identifying EPC1 as a Prognostic Biomarker in Head and Neck Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex., [RefSeq, PubMed]; This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [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": 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DSC3;D3DRX7;Q5VW54;Q5VW56;Q5VW58;Q8NAQ4;Q8NE21;Q96LF4;Q96RR6;Q9H7T7", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0140463 chromatin-protein adaptor activity;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0031965 nuclear membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9H2F5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCE0-1", "uniprot_id": [ { "id": "EPG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCE0", "type": "external" } ], "mass": 292481.0, "length": 2579, "protein_name": "Ectopic P granules protein 5 homolog", "gene_name": "EPG5", "organism": "Human", "refseq_name": "ectopic P granules protein 5 homolog isoform 1", "refseq_ac": [ { "id": "NP_066015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066015", "type": "external" } ], "gene_names_uniprotkb": "EPG5; KIAA1632", "gene_names_refseq": "EPG5; HEEW1; KIAA1632; NEDPAM; VICIS", "protein_names_uniprotkb": "Ectopic P granules protein 5 homolog", "protein_names_refseq": "ectopic P granules protein 5 homolog isoform 1; ectopic P-granules autophagy protein 5 homolog", "tax_id": 9606, "disease": "neurodevelopmental disorder with parkinsonism or other movement abnormalities (Disease Ontology:DOID:0051076); Vici syndrome (Disease Ontology:DOID:0060356); retinitis pigmentosa (Disease Ontology:DOID:10584); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:57724)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "11237011;16959974;17549423;18512783;18767875;20550938;22544926;22645359;23186163;23222957;23481700;24366607;24715725;25331754;25505266;25576301;25645385;25892735;26090577;26154972;26375851;26917586;26992070;27343256;27600516;27862975;27893789;27920218;28168853;28218747;28228285;28467828;28514659;28832583;28904123;29130391;29242379;29393594;29437277;29493099;29557506;29632046;29671580;29769354;29786170;30315122;30410026;30429286;30524438;30573663;30833945;31154438;31217245;31530632;31844290;31937595;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33674710;33912179;33936100;33968037;34087483;34171305;34185709;34264147;34357683;34405274;34509645;34689707;35051231;35154160;35494241;35580925;36010968;36215666;36241641;36410285;37217939;40192014", "class_list": "", "function": "A mutation affecting the penultimate exon of EPG5 and presenting with typical clinical manifestations of Vici syndrome. Review article, [RefSeq, PubMed]; Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5., [RefSeq, PubMed]; Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located (PubMed:29130391)., [UniProtKB, PubMed, PubMed, PubMed]; Ophthalmic findings as clues for early diagnosis of Vici syndrome in a neonate., [RefSeq, PubMed]; Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant., [RefSeq, PubMed]; Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy., [RefSeq, PubMed]; This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]., [RefSeq]; We characterized the KIAA1632 gene by computational methods: detailed investigation of the genomic structure, protein prediction, identification of orthologs in other species and phylogenetic analysis., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2BDF3;Q9H8C8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0005764 lysosome", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0008333 endosome to lysosome transport;GO:0034162 toll-like receptor 9 signaling pathway;GO:1990786 cellular response to dsDNA;GO:0006862 nucleotide transport", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9HCE0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9N2J8-1", "uniprot_id": [ { "id": "ENH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9N2J8", "type": "external" } ], "mass": 60911.0, "length": 555, "protein_name": "HERV-H_2q24.1 provirus ancestral Env polyprotein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "HERV-H_2q24.1 provirus ancestral Env polyprotein; Env protein HERV-H/p59; Envelope polyprotein; HERV-H/env59", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "11162811;12970426;14557543;35051231", "class_list": "", "function": "Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties., [UniProtKB, PubMed]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]", "predicted_glycosites": 8, "predicted_n_glycosites": 7, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9N2J8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY74-1", "uniprot_id": [ { "id": "ETAA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY74", "type": "external" } ], "mass": 103440.0, "length": 926, "protein_name": "Ewing's tumor-associated antigen 1", "gene_name": "ETAA1", "organism": "Human", "refseq_name": "ewing's tumor-associated antigen 1", "refseq_ac": [ { "id": "NP_061875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061875", "type": "external" } ], "gene_names_uniprotkb": "ETAA1; ETAA16", "gene_names_refseq": "ETAA16; ETAA1", "protein_names_uniprotkb": "Ewing's tumor-associated antigen 1; Ewing's tumor-associated antigen 16", "protein_names_refseq": "ETAA1, ATR kinase activator; Ewing tumor associated antigen 1; ewing's tumor-associated antigen 16; ewing's tumor-associated antigen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54465)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;16003559;16959974;17525332;23186163;23481700;24714562;25772364;26728094;26992070;27600516;27601467;27723717;27723720;27846572;28218747;28228285;28832583;28834231;28904123;29557506;29632046;30059200;30139873;30315122;30379171;30620550;30755469;30940728;31217245;31615875;31844290;32157095;32265295;32387766;32488085;32938616;32938750;33298915;33636182;33968037;34509645;35051231;35254053;35289036;35580925;35705054;36241641;41350704", "class_list": "", "function": "ATR activation is regulated by dimerization of ATR activating proteins., [RefSeq, PubMed]; ETAA1 and TOPBP1 contain a predicted coiled-coil motif that is required for ATR activation in vitro and in cells. Mutation of the predicted coiled coils does not alter AAD oligomerization but does impair binding of the AADs to ATR., [RefSeq, PubMed]; ETAA1 may have an important role in protecting against genome instability arising from incompletely duplicated DNA via regulatory control of its ATR-stimulating potential, [RefSeq, PubMed]; ETAA1 regulates mitotic ATR signaling and is required for proper chromosome alignment during metaphase and for a fully functional spindle assembly checkpoint response., [RefSeq, PubMed]; Replication stress response protein that accumulates at DNA damage sites and promotes replication fork progression and integrity (PubMed:27601467, PubMed:27723717, PubMed:27723720). Recruited to stalled replication forks via interaction with the RPA complex and directly stimulates ATR kinase activity independently of TOPBP1 (PubMed:27723717, PubMed:27723720, PubMed:30139873). Probably only regulates a subset of ATR targets (PubMed:27723717, PubMed:27723720)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Results reveal that ETAA1 is a novel RPA-interacting protein that promotes restart of stalled replication forks., [RefSeq, PubMed]; Results suggest that ETAA16 may function as a tumour-specific cell surface antigen in Ewing's family of tumors, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 32, "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": "Q05BT7;Q53SC4", "ec_number_list": [], "go_molecular_function": "GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:2000001 regulation of DNA damage checkpoint;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0071902 positive regulation of protein serine/threonine kinase activity;GO:0031297 replication fork processing", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9NY74-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYP7-1", "uniprot_id": [ { "id": "ELOV5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYP7", "type": "external" } ], "mass": 35293.0, "length": 299, "protein_name": "Very long chain fatty acid elongase 5", "gene_name": "ELOVL5", "organism": "Human", "refseq_name": "very long chain fatty acid elongase 5 isoform 2", "refseq_ac": [ { "id": "NP_001229757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229757", "type": "external" } ], "gene_names_uniprotkb": "ELOVL5; ELOVL2; PRO0530", "gene_names_refseq": "ELOVL5; HELO1; SCA38; dJ483K16.1", "protein_names_uniprotkb": "Very long chain fatty acid elongase 5; 2.3.1.199; 3-keto acyl-CoA synthase ELOVL5; ELOVL FA elongase 5; ELOVL fatty acid elongase 5; Elongation of very long chain fatty acids protein 5; Fatty acid elongase 1; Very long chain 3-ketoacyl-CoA synthase 5; Very long chain 3-oxoacyl-CoA synthase 5; hELO1", "protein_names_refseq": "3-keto acyl-CoA synthase ELOVL5; ELOVL FA elongase 5; ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast); elongation of very long chain fatty acids protein 5; fatty acid elongase 1; homolog of yeast long chain polyunsaturated fatty acid elongation enzyme 2; spinocerebellar ataxia 38; very long chain 3-ketoacyl-CoA synthase 5; very long chain 3-oxoacyl-CoA synthase 5; very long chain fatty acid elongase 5 isoform 2; very long chain fatty acid elongase 5", "tax_id": 9606, "disease": "spinocerebellar ataxia 38 (Disease Ontology:DOID:0050985)", "pathway": " (hsa:60481); (R-HSA-2046105); (R-HSA-2046106); (R-HSA-75876); (R-HSA-9841922)", "pathway_count": 5, "publication_count": 145, "publication_id_list": "10425206;10548543;10558993;10601301;10769175;10835357;10882139;10899997;10954726;10970790;11027271;11230166;11237011;11500517;11734571;11889465;11988075;12323085;12323090;12371743;12482854;12525535;12562861;12713571;12716664;12829629;12897190;12975357;1310260;1346092;14636670;15469937;16036915;16303743;16371355;16380219;17081983;17379924;17681178;17697703;17761950;17762044;18003621;1834642;18538142;18554506;18669648;18691976;18728184;19043829;19056654;19172745;19505953;19575253;19826053;20068231;20937905;21959040;22009320;23481700;24715725;25065913;25576301;25645385;25802875;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;30779550;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33298915;33329381;33392160;33547161;33592498;33912179;33936100;33968037;34171305;34185709;34357683;34932366;35051231;35318648;35561310;35580925;35670054;36010968;36056008;36215666;36241641;36284347;37938771;38422897;5411545;7061494;8075637;8096621;8521497;8521498;8609415;8656081;8832760;9065481;9171241;9684854;9704073;9732298;9744270", "class_list": "glycogene", "function": "Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that acts specifically toward polyunsaturated acyl-CoA with the higher activity toward C18:3(n-6) acyl-CoA. May participate in the production of monounsaturated and of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity) (PubMed:10970790, PubMed:20937905). In conditions where the essential linoleic and alpha linoleic fatty acids are lacking it is also involved in the synthesis of Mead acid from oleic acid (By similarity)., [UniProtKB, PubMed, PubMed, HAMAP, UniProtKB]; Downregulation of Elovl5 promotes breast cancer metastasis through a lipid-droplet accumulation-mediated induction of TGF-beta receptors. Publication Status: Online-Only, [RefSeq, PubMed]; ELOVL5 Is a Critical and Targetable Fatty Acid Elongase in Prostate Cancer., [RefSeq, PubMed]; ELOVL5-mediated fatty acid elongation promotes cellular proliferation and invasion in renal cell carcinoma., [RefSeq, PubMed]; This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 288, "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": "B4DZJ2;F6SH78;Q59EL3;Q5TGH5;Q6NXE7;Q7L2S5;Q8NCG4;Q9UI22", "ec_number_list": [ { "id": "2.3.1.199", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.199", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0009922 fatty acid elongase activity", "go_cellular_component": "GO:0097447 dendritic tree;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0036109 alpha-linolenic acid metabolic process;GO:0030148 sphingolipid biosynthetic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0043651 linoleic acid metabolic process;GO:0006636 unsaturated fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q9NYP7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJA9-1", "uniprot_id": [ { "id": "ENPP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJA9", "type": "external" } ], "mass": 54666.0, "length": 477, "protein_name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 5", "gene_name": "ENPP5", "organism": "Human", "refseq_name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001277001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277001", "type": "external" } ], "gene_names_uniprotkb": "ENPP5; PRO1107", "gene_names_refseq": "ENPP5; NPP-5; NPP5", "protein_names_uniprotkb": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 5; 3.1.-.-; E-NPP 5; NPP-5", "protein_names_refseq": "E-NPP 5; ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative); ectonucleotide pyrophosphatase/phosphodiesterase family member 5 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:59084)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1038/emboj.2013.79;12975309;23584533;24190977;28898552;29242379;30626607;31844290;32350084;34087483;35051231;36010968;37074911;37352273;38253038;38436793", "class_list": "", "function": "Can hydrolyze NAD but cannot hydrolyze nucleotide di- and triphosphates. Lacks lysopholipase D activity. May play a role in neuronal cell communication., [UniProtKB, UniProtKB, UniProtKB]; New oncogenic functions of LINE1 retroelement as a ceRNA for tumor suppressive microRNA miR-126 on ENPP5. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of ENPP5, a senescence-associated secretory phenotype factor, prevents skin aging., [RefSeq, PubMed]; The ENPP5 is able to cleave nicotinamide adenine dinucleotide (NAD), suggesting a potential role of this enzyme in NAD-based neurotransmission., [RefSeq, PubMed]; This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 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": 6, "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": 6, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q5TFV2;Q6UX49", "ec_number_list": [ { "id": "3.6.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.22", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0000210 NAD+ diphosphatase activity;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0007154 cell communication", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9UJA9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULE4-1", "uniprot_id": [ { "id": "F184B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULE4", "type": "external" } ], "mass": 121044.0, "length": 1060, "protein_name": "Protein FAM184B", "gene_name": "FAM184B", "organism": "Human", "refseq_name": "protein FAM184B", "refseq_ac": [ { "id": "NP_056503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056503", "type": "external" } ], "gene_names_uniprotkb": "FAM184B; KIAA1276", "gene_names_refseq": "FAM184B", "protein_names_uniprotkb": "Protein FAM184B", "protein_names_refseq": "protein FAM184B", "tax_id": 9606, "disease": "", "pathway": " (hsa:27146)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "29557506;30379171;31154438;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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 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": 0.8, "record_id": "Q9ULE4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y227-1", "uniprot_id": [ { "id": "ENTP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y227", "type": "external" } ], "mass": 70255.0, "length": 616, "protein_name": "Ectonucleoside triphosphate diphosphohydrolase 4", "gene_name": "ENTPD4", "organism": "Human", "refseq_name": "ectonucleoside triphosphate diphosphohydrolase 4 isoform b", "refseq_ac": [ { "id": "NP_001122402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122402", "type": "external" } ], "gene_names_uniprotkb": "ENTPD4; KIAA0392; LALP70; LYSAL1", "gene_names_refseq": "ENTPD4; LALP70; LAP70; LYSAL1; NTPDase-4; UDPase", "protein_names_uniprotkb": "Ectonucleoside triphosphate diphosphohydrolase 4; 3.6.1.15; 3.6.1.42; 3.6.1.6; Golgi UDPase; Lysosomal apyrase-like protein of 70 kDa; NTPDase 4; UDPase; Uridine-diphosphatase", "protein_names_refseq": "Golgi UDPase; ectonucleoside triphosphate diphosphohydrolase 4 isoform b; golgi luminal UDPase; guanosine-diphosphatase like protein; lysosomal apyrase-like 1; lysosomal apyrase-like protein of 70 kDa; uridine-diphosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9583); (R-HSA-8850843)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;10393803;10400613;10470077;10510450;10681547;10858452;10866813;10948193;11041856;11041857;11237011;11278936;11927941;11929769;12694193;12888562;14529283;14675084;15122917;15130768;15200686;15592455;16338080;17095758;17502665;18404504;18404510;19640930;20058876;20537721;20682839;21074248;21248752;21586362;22169232;23241884;24672025;25645385;27600516;27846572;28832583;28904123;29242379;29314611;29351928;29493099;29557506;29769354;29786170;30459171;30484775;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32767432;32938616;32983136;33592498;33691108;33912179;33981976;34171305;34357683;35051231;35251023;35561310;35580925;36010968;36241641;36284347;8955160;8995405;9364474;9556635;9675246", "class_list": "", "function": "Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner, with a preference for pyrimidines. Preferentially hydrolyzes UTP and TTP. AMP, ADP, ATP and UMP are not substrates (PubMed:10858452, PubMed:9556635). Preferentially activated by Ca(2+) over Mg(2+) (PubMed:10858452)., [UniProtKB, PubMed, PubMed]; Crystal structure of the nucleotide-metabolizing enzyme NTPDase4., [RefSeq, PubMed]; Has a broad substrate specificity with the ability of cleaving all nucleotide di- and triphosphates with the exception of adenosine di- and triphosphate (ADP and ATP). Preferentially hydrolyzes CTP, UDP, CDP, GTP and GDP. Can use either Ca(2+) or Mg(2+) equally., [UniProtKB, PubMed, PubMed]; NTPDASE4 gene products cooperate with the adenovirus E4orf4 protein through PP2A-dependent and -independent mechanisms and contribute to induction of cell death., [RefSeq, PubMed]; The VSFASSQQ motif confers calcium sensitivity to LALP70 during UDP cleavage. Publication Status: Online-Only, [RefSeq, PubMed]; The present study fails to provide evidence for the contribution of ENTPD4 genes to the etiology of schizophrenia in the Japanese population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "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": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DSS3;O15092", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0004382 GDP phosphatase activity;GO:0045134 UDP phosphatase activity;GO:0017110 nucleoside diphosphate phosphatase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0046712 GDP catabolic process;GO:0006256 UDP catabolic process;GO:0034656 nucleobase-containing small molecule catabolic process;GO:0046036 CTP metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9Y227-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5M1-1", "uniprot_id": [ { "id": "F215A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5M1", "type": "external" } ], "mass": 11973.0, "length": 114, "protein_name": "Uncharacterized protein FAM215A", "gene_name": "FAM215A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM215A; APR2; C17orf88", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein FAM215A; APR-2; Apoptosis-related protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10948432", "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": "Q6NTD6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9Y5M1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6R7-1", "uniprot_id": [ { "id": "FCGBP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6R7", "type": "external" } ], "mass": 572017.0, "length": 5405, "protein_name": "IgGFc-binding protein", "gene_name": "FCGBP", "organism": "Human", "refseq_name": "IgGFc-binding protein precursor", "refseq_ac": [ { "id": "NP_003881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003881", "type": "external" } ], "gene_names_uniprotkb": "FCGBP", "gene_names_refseq": "FC(GAMMA)BP; FCGBP", "protein_names_uniprotkb": "IgGFc-binding protein; Fcgamma-binding protein antigen; FcgammaBP", "protein_names_refseq": "Fc fragment of IgG binding protein; Human Fc gamma BP; IgG Fc binding protein; IgGFc-binding protein precursor; fcgamma-binding protein antigen; fcgammaBP; igGFc-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8857)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11600203;12208673;15084671;16335952;16740002;19139490;19432394;19531498;23090970;23719902;24715725;25645385;26791533;26992070;29242379;29391424;29557506;29632711;29671580;29731959;29741879;29786170;29789417;30315122;30429286;30459171;31154438;31844290;31848261;33392160;34087483;34171305;34185709;35051231;35580925;35936008;36215666;36284347;36803544;37074911;37515334;37938771;38017206;38396056;9182547", "class_list": "", "function": "Fc fragment of IgG binding protein is correlated with immune infiltration levels in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in the maintenance of the mucosal structure as a gel-like component of the mucosa., [UniProtKB, PubMed]; Non-coding RNA-related FCGBP downregulation in head and neck squamous cell carcinoma: a novel biomarker for predicting paclitaxel resistance and immunosuppressive microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Revealing the role of necroptosis microenvironment: FCGBP + tumor-associated macrophages drive primary liver cancer differentiation towards cHCC-CCA or iCCA., [RefSeq, PubMed]; Role of the mucin-like glycoprotein FCGBP in mucosal immunity and cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; [IgG Fc binding protein (FCGBP) as a prognostic marker of low-grade glioma and its correlation analysis with immune infiltration]., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 1, "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": 11, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 11, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 129, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 47, "disease_count": 0, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "O95784", "ec_number_list": [], "go_molecular_function": "GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9Y6R7-1", "record_type": "protein", "filter_code": "0000000.1000101.000100.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00519-1", "uniprot_id": [ { "id": "FAAH1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00519", "type": "external" } ], "mass": 63066.0, "length": 579, "protein_name": "Fatty-acid amide hydrolase 1", "gene_name": "FAAH", "organism": "Human", "refseq_name": "fatty-acid amide hydrolase 1", "refseq_ac": [ { "id": "NP_001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001432", "type": "external" } ], "gene_names_uniprotkb": "FAAH; FAAH1", "gene_names_refseq": "FAAH-1; FAAH1; FAAH; PSAB", "protein_names_uniprotkb": "Fatty-acid amide hydrolase 1; 3.1.1.-; 3.5.1.99; Anandamide amidohydrolase 1; Fatty acid ester hydrolase; Oleamide hydrolase 1", "protein_names_refseq": "anandamide amidohydrolase 1; fatty acid ester hydrolase; fatty-acid amide hydrolase 1; oleamide hydrolase 1", "tax_id": 9606, "disease": "Parkinson's disease 1 (Disease Ontology:DOID:0060367); familial temporal lobe epilepsy 7 (Disease Ontology:DOID:0060751); Norman-Roberts syndrome (Disease Ontology:DOID:0060902); Alzheimer's disease (Disease Ontology:DOID:10652); autistic disorder (Disease Ontology:DOID:12849); Down syndrome (Disease Ontology:DOID:14250); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); status epilepticus (Disease Ontology:DOID:1824); substance-related disorder (Disease Ontology:DOID:303); bipolar disorder (Disease Ontology:DOID:3312); temporal lobe epilepsy (Disease Ontology:DOID:3328); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); polysubstance abuse, susceptibility to (MONDO:MONDO:0011685)", "pathway": " (hsa:2166); (R-HSA-2142753)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11237011;12060782;12665801;15254019;15671038;15897321;16959974;16972078;17015445;18083107;19926788;20058876;21049984;21247147;21746768;23556448;24275569;25576301;29331515;30429286;31844290;32488085;32502341;32938616;33981976;35051231;36010968;36241641;37217939;37253733;37372343;37433211;37761966;38114812;6810878;7954810;9122178;9878243", "class_list": "", "function": "Association between the FAAH C385A variant (rs324420) and obesity-related traits: a systematic review., [RefSeq, PubMed]; Association of FAAH rs324420 (C385A) Polymorphism with High-Level Performance in Volleyball Players. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the hydrolysis of endogenous amidated lipids like the sleep-inducing lipid oleamide ((9Z)-octadecenamide), the endocannabinoid anandamide (N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine), as well as other fatty amides, to their corresponding fatty acids, thereby regulating the signaling functions of these molecules (PubMed:17015445, PubMed:19926788, PubMed:9122178). Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates (PubMed:17015445, PubMed:9122178). It can also catalyze the hydrolysis of the endocannabinoid 2-arachidonoylglycerol (2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol) (PubMed:21049984). FAAH cooperates with PM20D1 in the hydrolysis of amino acid-conjugated fatty acids such as N-fatty acyl glycine and N-fatty acyl-L-serine, thereby acting as a physiological regulator of specific subsets of intracellular, but not of extracellular, N-fatty acyl amino acids (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; FAAH Pro129Thr Variant Is Associated with Increased Cholesterol Levels in Normal-Weight Metabolically Unhealthy Subjects., [RefSeq, PubMed]; Functional Variation in the FAAH Gene Is Directly Associated with Subjective Well-Being and Indirectly Associated with Problematic Alcohol Use. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of fatty acid amide hydrolase as a metastasis suppressor in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ19;Q52M86;Q5TDF8", "ec_number_list": [ { "id": "3.5.1.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.99", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.84", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.3.2.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.9", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.60", "type": "external" }, { "id": "3.5.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.114", "type": "external" }, { "id": "3.5.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.14", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" } ], "go_molecular_function": "GO:0017064 fatty acid amide hydrolase activity;GO:0005543 phospholipid binding;GO:0042802 identical protein binding;GO:0047372 monoacylglycerol lipase activity;GO:0004040 amidase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005856 cytoskeleton;GO:0005789 endoplasmic reticulum membrane;GO:0098794 postsynapse;GO:0031090 organelle membrane", "go_biological_process": "GO:0009062 fatty acid catabolic process;GO:0045471 response to ethanol;GO:0045907 positive regulation of vasoconstriction;GO:0052651 monoacylglycerol catabolic process;GO:0035902 response to immobilization stress", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "O00519-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IX07-1", "uniprot_id": [ { "id": "FOG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IX07", "type": "external" } ], "mass": 104888.0, "length": 1006, "protein_name": "Zinc finger protein ZFPM1", "gene_name": "ZFPM1", "organism": "Human", "refseq_name": "zinc finger protein ZFPM1", "refseq_ac": [ { "id": "NP_722520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_722520", "type": "external" } ], "gene_names_uniprotkb": "ZFPM1; FOG1; ZFN89A", "gene_names_refseq": "FOG1; FOG; PRDM18; ZC2HC11A; ZFPM1; ZNF89A", "protein_names_uniprotkb": "Zinc finger protein ZFPM1; FOG-1; Friend of GATA 1; Friend of GATA protein 1; Zinc finger protein 89A; Zinc finger protein multitype 1", "protein_names_refseq": "FOG-1; PR/SET domain 18; friend of GATA 1; friend of GATA protein 1; zinc finger protein 89A; zinc finger protein ZFPM1; zinc finger protein, multitype 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:161882); (R-HSA-8936459); (R-HSA-983231)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10617663;11042108;11062261;11237011;11242053;11744692;11751636;11895428;11950885;12032298;12134158;12427746;12483298;12576332;15020713;15247287;15302935;15710388;16054028;1630448;16628190;17027967;17196961;17487921;17525332;17924679;18316480;18669648;19114653;19293402;19413330;19509293;19664994;19690332;20339092;20530532;20627800;20876458;21129147;21252065;21725049;218813;22777353;23186163;23481700;24275569;25892735;26010396;26758079;26845023;27862975;28228285;28832583;29557506;29632711;30410026;30429286;30779550;31844290;31848261;32561925;32938616;32983136;33968037;33981976;3409321;34171305;35051231;35318648;35580925;35690555;38757931;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9927674", "class_list": "", "function": "Erythroid and megakaryocytic lineage differentiation and maturation are regulated via cooperation between transcription factor GATA1 and its essential cofactor FOG1. It depends on the binding of FOG1 to the N-terminalfinger of GATA1., [RefSeq, PubMed]; Long Noncoding RNA ZFPM2-AS1 Knockdown Restrains the Development of Retinoblastoma by Modulating the MicroRNA-515/HOXA1/Wnt/beta-Catenin Axis., [RefSeq, PubMed]; PI3K/HSCB axis facilitates FOG1 nuclear translocation to promote erythropoiesis and megakaryopoiesis. Publication Status: Online-Only, [RefSeq, PubMed]; The upregulation of Gata transcription factors family and FOG-1 in expanded and differentiated cord blood-derived CD34[+] hematopoietic stem cells to megakaryocyte lineage during co-culture with cord blood mesenchymal stem cells., [RefSeq, PubMed]; Transcription regulator that plays an essential role in erythroid and megakaryocytic cell differentiation. Essential cofactor that acts via the formation of a heterodimer with transcription factors of the GATA family GATA1, GATA2 and GATA3. Such heterodimer can both activate or repress transcriptional activity, depending on the cell and promoter context. The heterodimer formed with GATA proteins is essential to activate expression of genes such as NFE2, ITGA2B, alpha- and beta-globin, while it represses expression of KLF1. May be involved in regulation of some genes in gonads. May also be involved in cardiac development, in a non-redundant way with ZFPM2/FOG2 (By similarity)., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor 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:0002295 T-helper cell lineage commitment;GO:0003192 mitral valve formation;GO:0003195 tricuspid valve formation;GO:0010724 regulation of definitive erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q8IX07-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVK7-1", "uniprot_id": [ { "id": "F240A_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVK7", "type": "external" } ], "mass": 10377.0, "length": 83, "protein_name": "Protein FAM240A", "gene_name": "FAM240A", "organism": "Human", "refseq_name": "protein FAM240A", "refseq_ac": [ { "id": "NP_001182371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182371", "type": "external" } ], "gene_names_uniprotkb": "FAM240A", "gene_names_refseq": "FAM240A", "protein_names_uniprotkb": "Protein FAM240A", "protein_names_refseq": "protein FAM240A", "tax_id": 9606, "disease": "", "pathway": " (hsa:100132146)", "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": "Q6ZNS2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GVK7-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6ND36-1", "uniprot_id": [ { "id": "FA83G_HUMAN", "url": "https://www.uniprot.org/uniprot/A6ND36", "type": "external" } ], "mass": 90835.0, "length": 823, "protein_name": "Protein FAM83G", "gene_name": "FAM83G", "organism": "Human", "refseq_name": "protein FAM83G", "refseq_ac": [ { "id": "NP_001035088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035088", "type": "external" } ], "gene_names_uniprotkb": "FAM83G; PAWS1", "gene_names_refseq": "FAM83G; PAWS1; SACK1G", "protein_names_uniprotkb": "Protein FAM83G; Protein associated with SMAD1", "protein_names_refseq": "family with sequence similarity 83 member G; protein FAM83G; protein associated with SMAD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:644815)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;16964243;18220336;18669648;19664995;20166139;21406692;23186163;24275569;24554596;25880248;26477546;26992070;27862975;28832583;29514862;29557506;29789297;30833945;31656861;31844290;32357974;32488085;32570757;32938616;33298915;33592498;33968037;33981976;34144502;35051231;35580925;36010968", "class_list": "", "function": "FAM83G promotes proliferation, invasion, and metastasis by regulating PI3K/AKT signaling in hepatocellular carcinoma cells., [RefSeq, PubMed]; PAWS1 regulates the expression of some SMAD4-independent BMP target genes as well as some BMP-independent genes. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate for type I BMP receptor kinase involved in regulation of some target genes of the BMP signaling pathway. Also regulates the expression of several non-BMP target genes, suggesting a role in other signaling pathways., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q3KQZ4;Q6ZW60", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0030509 BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "A6ND36-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKC0-1", "uniprot_id": [ { "id": "F90A7_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKC0", "type": "external" } ], "mass": 49804.0, "length": 464, "protein_name": "Protein FAM90A7", "gene_name": "FAM90A17; FAM90A7", "organism": "Human", "refseq_name": "protein FAM90A7", "refseq_ac": [ { "id": "NP_001384316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001384316", "type": "external" } ], "gene_names_uniprotkb": "FAM90A17; FAM90A7; FAM90A7P; FAM90A7", "gene_names_refseq": "FAM90A7P; FAM90A7", "protein_names_uniprotkb": "Protein FAM90A7", "protein_names_refseq": "family with sequence similarity 90 member A7, pseudogene; protein FAM90A7; putative protein FAM90A7P; putative protein FAM90A7", "tax_id": 9606, "disease": "", "pathway": " (hsa:441317)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "FAM90A7 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NKC0-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNJ1-1", "uniprot_id": [ { "id": "F90A9_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNJ1", "type": "external" } ], "mass": 49738.0, "length": 464, "protein_name": "Protein FAM90A9", "gene_name": "FAM90A19; FAM90A9", "organism": "Human", "refseq_name": "protein FAM90A9", "refseq_ac": [ { "id": "NP_001157920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157920", "type": "external" } ], "gene_names_uniprotkb": "FAM90A19; FAM90A9; FAM90A9P; FAM90A9; LOC128966567", "gene_names_refseq": "FAM90A9P; FAM90A9", "protein_names_uniprotkb": "Protein FAM90A9", "protein_names_refseq": "family with sequence similarity 90 member A9, pseudogene; protein FAM90A9; putative protein FAM90A9P; putative protein FAM90A9", "tax_id": 9606, "disease": "", "pathway": " (hsa:441327)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "FAM90A9 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A6NNJ1-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5HY92-1", "uniprot_id": [ { "id": "FIGN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5HY92", "type": "external" } ], "mass": 82146.0, "length": 759, "protein_name": "Fidgetin", "gene_name": "FIGN", "organism": "Human", "refseq_name": "fidgetin isoform 1", "refseq_ac": [ { "id": "NP_060556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060556", "type": "external" } ], "gene_names_uniprotkb": "FIGN", "gene_names_refseq": "FIGN", "protein_names_uniprotkb": "Fidgetin", "protein_names_refseq": "fidgetin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55137)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;19240061;19680635;19913121;22672901;23186163;23481700;28302752;28534241;29242379;29331515;29393594;29557506;29632046;30429286;30833945;31154438;31844290;32157095;32161166;32265295;33162817;33968037;34019948;35051231;35254053;36215666;38421251", "class_list": "", "function": "ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome., [UniProtKB, PubMed]; Comprehensive characterization of Fidgetin on tumor immune microenvironment evaluation and immunotherapy in human hepatocellular carcinoma., [RefSeq, PubMed]; FIGN +94762G>C polymorphism reduced the risk of congenital heart defects by activating the transcription of an alternative FIGN isoform, inhibiting proteasome activity and allowing the accumulation of RFC1 and DHFR, promoting folate transmembrane transport and utilization., [RefSeq, PubMed]; FIGN might play an important role in decreased congenital heart defect risk by upregulating plasma folate concentration during embryo heart development, [RefSeq, PubMed]; Fidgetin as a potential prognostic biomarker for hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 40, "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": "B3KWM0;Q9H6M5;Q9NVZ9", "ec_number_list": [], "go_molecular_function": "GO:0008568 microtubule severing ATPase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005874 microtubule;GO:0016363 nuclear matrix", "go_biological_process": "GO:0051013 microtubule severing;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q5HY92-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01362-1", "uniprot_id": [ { "id": "FCERB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01362", "type": "external" } ], "mass": 26534.0, "length": 244, "protein_name": "High affinity immunoglobulin epsilon receptor subunit beta", "gene_name": "MS4A2", "organism": "Human", "refseq_name": "high affinity immunoglobulin epsilon receptor subunit beta isoform 1", "refseq_ac": [ { "id": "NP_000130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000130", "type": "external" } ], "gene_names_uniprotkb": "MS4A2; APY; FCER1B; IGER", "gene_names_refseq": "APY; ATOPY; FCER1B; FCERI; IGEL; IGER; IGHER; MS4A2", "protein_names_uniprotkb": "High affinity immunoglobulin epsilon receptor subunit beta; Fc epsilon receptor I beta-chain; FcERI; IgE Fc receptor subunit beta; Membrane-spanning 4-domains subfamily A member 2", "protein_names_refseq": "Fc fragment of IgE, high affinity I, receptor for; High affinity immunoglobulin epsilon receptor beta-subunit (FcERI) (IgE Fc receptor, beta-subunit) (Fc epsilon receptor I beta-chain); beta polypeptide; high affinity IgE receptor beta subunit; high affinity immunoglobulin epsilon receptor subunit beta isoform 1; high affinity immunoglobulin epsilon receptor subunit beta; igE Fc receptor subunit beta; immunoglobulin E receptor, high affinity, beta polypeptide; membrane-spanning 4-domains subfamily A member 2", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); atopic dermatitis (Disease Ontology:DOID:3310); rhinitis (Disease Ontology:DOID:4483)", "pathway": " (hsa:2206); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837)", "pathway_count": 6, "publication_count": 109, "publication_id_list": "10026222;10068651;10072481;10395673;10523831;10702308;10838074;10860980;10882101;10917520;11007481;11015619;11030334;11090634;11237011;11278486;11306453;11325957;11340169;11368773;11395409;11460167;11713268;11772397;11804587;12217391;12473184;12573241;12660731;12670394;12670955;12697656;12975316;1386024;14514672;14630197;15010370;15125833;15327770;1535625;15548136;15686303;16186825;16252004;16356853;16356856;16456001;16831874;16938345;16978534;17047224;17135271;17158449;17428801;17496917;17498065;17502104;17540168;17948050;17993265;18296442;18772140;19124833;19574218;19592646;19909365;20300203;20685844;21653832;21966355;22798961;25200415;25576301;2833705;28775209;29557506;31848261;33912179;34261469;35051231;35580925;36284347;36424895;38158688;7518558;7526393;7528327;7855889;7997270;8071371;8493579;8629002;8630736;8631904;8663278;8673706;8702662;8799126;8817330;8842731;8910399;8986718;8995445;9099726;9199344;9295361;9477973;9639556;9989831", "class_list": "", "function": "Evaluation value and mechanism of ADRB2 and FCER1B gene polymorphisms in preterm infants with congenital respiratory diseases. Publication Status: Online-Only, [RefSeq, PubMed]; High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy., [UniProtKB]; Identification of redundancy between human FcepsilonRIbeta and MS4A6A proteins points toward additional complex mechanisms for FcepsilonRI trafficking and signaling., [RefSeq, PubMed]; Interaction between antibiotic use and MS4A2 gene polymorphism on childhood eczema: a prospective birth cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]., [RefSeq]; Using immunohistochemistry, we validated that MS4A2, the beta subunit of the IgE receptor expressed on mast cells, is a favorable prognostic indicator and show that MS4A2 gene expression is an independent prognostic marker for early-stage lung cancer patient 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": 4, "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": "Q54A81", "ec_number_list": [], "go_molecular_function": "GO:0019863 IgE binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0032998 Fc-epsilon receptor I complex;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q01362-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXS8-1", "uniprot_id": [ { "id": "HYCC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXS8", "type": "external" } ], "mass": 58647.0, "length": 530, "protein_name": "Hyccin 2", "gene_name": "HYCC2", "organism": "Human", "refseq_name": "hyccin 2 isoform 1", "refseq_ac": [ { "id": "NP_001308547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308547", "type": "external" } ], "gene_names_uniprotkb": "HYCC2; FAM126B", "gene_names_refseq": "FAM126B; HYCC2", "protein_names_uniprotkb": "Hyccin 2", "protein_names_refseq": "family with sequence similarity 126 member B; hyccin 2 isoform 1; hyccin 2; protein FAM126B", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 5 (Disease Ontology:DOID:0060793)", "pathway": " (hsa:285172)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;15302935;19413330;23186163;23481700;24275569;24958902;25576301;26571211;26992070;28218747;28904123;29437277;29485866;29557506;30315122;31844290;32357974;32488085;33298915;33592498;33912179;33968037;34185709;35051231;35318648;35580925;36010968;37340703", "class_list": "", "function": "Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "B2RCG7;Q4ZG87;Q53TX6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8IXS8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y324-1", "uniprot_id": [ { "id": "FCF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y324", "type": "external" } ], "mass": 23370.0, "length": 198, "protein_name": "rRNA-processing protein FCF1 homolog", "gene_name": "FCF1", "organism": "Human", "refseq_name": "rRNA-processing protein FCF1 homolog isoform 1", "refseq_ac": [ { "id": "NP_057046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057046", "type": "external" } ], "gene_names_uniprotkb": "FCF1; C14orf111; CGI-35", "gene_names_refseq": "Bka; C14orf111; CGI-35; FCF1; UTP24", "protein_names_uniprotkb": "rRNA-processing protein FCF1 homolog", "protein_names_refseq": "FCF1 small subunit; rRNA-processing protein FCF1 homolog isoform 1; rRNA-processing protein FCF1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51077); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21993680;22072790;22190735;22195017;22916032;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24550520;24714562;25411247;25525153;25645385;25653167;25851604;25892735;25969445;26085946;26196125;26237581;26375851;26728094;26992070;27084949;27600516;28228285;28832583;28834231;29242379;29331515;29508533;29557506;29769354;29786170;30484775;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33691108;33717175;33936100;33968037;34087483;34171305;34509645;34516797;35051231;35318648;35580925;36010968;36241641;36284347;9211966;9482744;9512526", "class_list": "", "function": "HUTP24 inactivation leads to aberrant processing of 18S rRNA 2 nucleotides downstream of the normal A1 cleavage site., [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, 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": "Q86TW8;Q8TBL8", "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:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9Y324-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRD1-1", "uniprot_id": [ { "id": "FBX6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRD1", "type": "external" } ], "mass": 33933.0, "length": 293, "protein_name": "F-box only protein 6", "gene_name": "FBXO6", "organism": "Human", "refseq_name": "F-box only protein 6", "refseq_ac": [ { "id": "NP_060908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060908", "type": "external" } ], "gene_names_uniprotkb": "FBXO6; FBG2; FBS2; FBX6", "gene_names_refseq": "FBG2; FBS2; FBX6; FBXO6; Fbx6b", "protein_names_uniprotkb": "F-box only protein 6; F-box protein that recognizes sugar chains 2; F-box/G-domain protein 2", "protein_names_refseq": "F-box only protein 6; F-box protein FBG2; F-box protein Fbx6; F-box protein that recognizes sugar chains 2; F-box/G-domain protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26270); (R-HSA-390471); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 177, "publication_id_list": "10531035;10535940;10597293;10811609;10878807;10945468;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12502735;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;12939278;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18203720;18206966;18662542;18775313;18775504;18776931;18805092;18826954;18851830;18926707;19011634;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19651622;19716789;19748355;19851334;19874575;19940261;21098288;21447816;21463634;21778237;21863050;21940857;21995946;22306028;22466964;22537386;2261476;22959436;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23747015;23912815;23986495;24076655;24366543;24636985;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25467444;25531226;25576301;25880248;26344709;26375851;26460955;26632597;26906416;27030794;27222660;27565346;27846572;27920218;28115426;28218747;28832583;28834231;28904123;29153394;29242379;29437277;29508533;29786170;30315122;30610225;31154438;31844290;31848261;32005965;32157095;32284348;32350084;32488085;32983136;33298915;33444648;33912179;33981976;34185709;34357683;35051231;35063764;35580925;36284347;39171510;40914422;9380723;9668046;9790970;9819444;9887101;9891082", "class_list": "glycogene", "function": "Fbs2 is a novel member of F-box protein family that recognizes N-glycans and plays a role in ERAD, [RefSeq, PubMed]; Structural basis of sugar recognition by SCF[FBS2] ubiquitin ligase involved in NGLY1 deficiency., [RefSeq, PubMed]; Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complexes. Involved in endoplasmic reticulum-associated degradation pathway (ERAD) for misfolded lumenal proteins by recognizing and binding sugar chains on unfolded glycoproteins that are retrotranslocated into the cytosol and promoting their ubiquitination and subsequent degradation. Able to recognize and bind denatured glycoproteins, which are modified with not only high-mannose but also complex-type oligosaccharides. Also recognizes sulfated glycans. Also involved in DNA damage response by specifically recognizing activated CHEK1 (phosphorylated on 'Ser-345'), promoting its ubiquitination and degradation. Ubiquitination of CHEK1 is required to ensure that activated CHEK1 does not accumulate as cells progress through S phase, or when replication forks encounter transient impediments during normal DNA replication., [UniProtKB, PubMed, PubMed]; The USP18-FBXO6 axis maintains the malignancy of ovarian cancer., [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of 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, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [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": 369, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AK42;B2RC88;Q9UKT3", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0006281 DNA repair;GO:0006508 proteolysis;GO:0016567 protein ubiquitination;GO:0036503 ERAD pathway;GO:0000077 DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 18.0, "record_id": "Q9NRD1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75949-1", "uniprot_id": [ { "id": "NALF2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75949", "type": "external" } ], "mass": 52477.0, "length": 472, "protein_name": "NALCN channel auxiliary factor 2", "gene_name": "NALF2", "organism": "Human", "refseq_name": "NALCN channel auxiliary factor 2", "refseq_ac": [ { "id": "NP_056501", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056501", "type": "external" } ], "gene_names_uniprotkb": "NALF2; FAM155B; TED; TMEM28", "gene_names_refseq": "CXorf63; FAM155B; NALF2; TED; TMEM28; bB57D9.1", "protein_names_uniprotkb": "NALCN channel auxiliary factor 2; Protein TED; Transmembrane protein 28; Transmembrane protein FAM155B", "protein_names_refseq": "NALCN channel auxiliary factor 2; bB57D9.1 (TED protein); family with sequence similarity 155 member B; transmembrane protein 28; transmembrane protein FAM155B", "tax_id": 9606, "disease": "", "pathway": " (hsa:27112)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "32494638;35494241;38253038", "class_list": "", "function": "Probable component of the NALCN channel complex, a channel that regulates the resting membrane potential and controls neuronal excitability., [UniProtKB, PubMed]; This gene encodes a product belonging to a family of proteins with unknown function. The presence of two transmembrane domains suggests that this protein is a multi-pass membrane protein. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 10, "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": "B1ALV6;B9EGK1;D3DVU1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0098703 calcium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O75949-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05160-1", "uniprot_id": [ { "id": "F13B_HUMAN", "url": "https://www.uniprot.org/uniprot/P05160", "type": "external" } ], "mass": 75511.0, "length": 661, "protein_name": "Coagulation factor XIII B chain", "gene_name": "F13B", "organism": "Human", "refseq_name": "coagulation factor XIII B chain precursor", "refseq_ac": [ { "id": "NP_001985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001985", "type": "external" } ], "gene_names_uniprotkb": "F13B", "gene_names_refseq": "F13B; FXIIIB", "protein_names_uniprotkb": "Coagulation factor XIII B chain; Fibrin-stabilizing factor B subunit; Protein-glutamine gamma-glutamyltransferase B chain; Transglutaminase B chain", "protein_names_refseq": "TGase; coagulation factor XIII B chain precursor; coagulation factor XIII, B polypeptide; fibrin-stabilizing factor B subunit; protein-glutamine gamma-glutamyltransferase B chain; transglutaminase B chain", "tax_id": 9606, "disease": "acute promyelocytic leukemia (Disease Ontology:DOID:0060318); factor XIII deficiency (Disease Ontology:DOID:2211); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); mood disorder (Disease Ontology:DOID:3324)", "pathway": " (hsa:2165); (R-HSA-9769733)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1021/acs.analchem.6b02887;10391209;11237011;11313256;16335952;19159218;20331752;21742792;2271707;23090970;2339067;25892735;26247044;27363989;2742826;28035807;2866798;28865246;29242379;29484525;29557506;29671580;29741879;29769354;3021194;30459171;30620550;30915671;32363891;33540604;35051231;37074911;37883802;4405643;7356959;8324218", "class_list": "", "function": "Effect of factor XIII levels and polymorphisms on the risk of myocardial infarction in young patients, [RefSeq, PubMed]; In VTE patients the changes of FXIII level and their effect on the risk of VTE show considerable sex-specific differences. Intron K polymorphism results in decreased FXIII levels, but does not influence the risk of VTE., [RefSeq, PubMed]; Investigations show no effect of FXIII-B subunit on the rate of complement activation, [RefSeq, PubMed]; Reciprocal stabilization of coagulation factor XIII-A and -B subunits is a determinant of plasma FXIII concentration., [RefSeq, PubMed]; Role, Laboratory Assessment and Clinical Relevance of Fibrin, Factor XIII and Endogenous Fibrinolysis in Arterial and Venous Thrombosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin., [UniProtKB, PubMed, PubMed]; This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K3E5;Q5VYL5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007596 blood coagulation;GO:0072378 blood coagulation, fibrin clot formation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P05160-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7W8-1", "uniprot_id": [ { "id": "F90AD_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7W8", "type": "external" } ], "mass": 49853.0, "length": 464, "protein_name": "Protein FAM90A13", "gene_name": "FAM90A13", "organism": "Human", "refseq_name": "protein FAM90A13", "refseq_ac": [ { "id": "NP_001410455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001410455", "type": "external" } ], "gene_names_uniprotkb": "FAM90A13; FAM90A13P", "gene_names_refseq": "FAM90A13P; FAM90A13", "protein_names_uniprotkb": "Protein FAM90A13", "protein_names_refseq": "family with sequence similarity 90 member A13, pseudogene; protein FAM90A13; putative protein FAM90A13P; putative protein FAM90A13", "tax_id": 9606, "disease": "", "pathway": " (hsa:441314)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "17684299", "class_list": "", "function": "FAM90A13 belongs to subfamily II of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]). For background information on the FAM90A gene family, as well as information on the evolution of FAM90A genes, see FAM90A1 (MIM 613041).[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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "P0C7W8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C866-1", "uniprot_id": [ { "id": "F91A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C866", "type": "external" } ], "mass": 30847.0, "length": 280, "protein_name": "Putative uncharacterized protein encoded by LINC00869", "gene_name": "LINC00869", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00869; FAM91A2; KIAA0493", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00869", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "31844290;32357974", "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": "P0C866-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20930-1", "uniprot_id": [ { "id": "FILA_HUMAN", "url": "https://www.uniprot.org/uniprot/P20930", "type": "external" } ], "mass": 435170.0, "length": 4061, "protein_name": "Filaggrin", "gene_name": "FLG", "organism": "Human", "refseq_name": "filaggrin", "refseq_ac": [ { "id": "NP_002007", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002007", "type": "external" } ], "gene_names_uniprotkb": "FLG", "gene_names_refseq": "ATOD2; FLG-1; FLG1; FLG", "protein_names_uniprotkb": "Filaggrin", "protein_names_refseq": "epidermal filaggrin; filaggrin", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); childhood-onset asthma (Disease Ontology:DOID:0080815); atopic dermatitis 2 (Disease Ontology:DOID:0110098); keratoconus (Disease Ontology:DOID:10126); leprosy (Disease Ontology:DOID:1024); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); ichthyosis vulgaris (Disease Ontology:DOID:1702); irritant dermatitis (Disease Ontology:DOID:2772); asthma (Disease Ontology:DOID:2841); food allergy (Disease Ontology:DOID:3044); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); allergic rhinitis (Disease Ontology:DOID:4481); brain edema (Disease Ontology:DOID:4724)", "pathway": " (hsa:2312); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 110, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12067728;12624109;12902340;1429717;15033990;15140226;15234001;15337775;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16444271;16550169;16639001;16815158;17030239;17291859;17330888;17515931;17562024;17596512;17924679;18691976;18843291;19190773;19194479;19384417;19924134;20068231;20179351;20657595;20667819;20940292;21439340;21531719;21654840;21997417;22735594;23283814;23629652;24794495;25926655;25946035;26340985;26375851;26390218;26992070;2740331;27452731;27726376;27893789;27920218;28467828;28904123;29314611;29393594;29508533;29557506;29786170;30397120;30429286;30524438;30905808;31061102;31399284;31844290;32157095;32161166;32350084;32373127;32488085;32897882;32938616;33043033;33936100;33968037;34078123;34087483;34171305;34211107;35051231;35154160;35251023;35580925;38414183;38564302;38665916;38677234;38907248;38928170;7543090;7612609;8780679;8824274;8999895;9395522;9565599", "class_list": "", "function": "Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis., [UniProtKB]; Association between filaggrin gene mutations and the clinical features of molluscum contagiosum: The Yamanashi Adjunct Study of the Japan Environment and Children's Study., [RefSeq, PubMed]; Evaluation of OVOL1 and Filaggrin immunohistochemical expression and clinical relevance in psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]; Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort. Publication Status: Online-Only, [RefSeq, PubMed]; Immunolabeling for filaggrin and acidic keratins in the granular layer of mammalian epidermis indicates that an acidic-basic interaction is involved in cornification., [RefSeq, PubMed]; Rare Filaggrin Variants Are Associated with Pustular Skin Diseases in Asians. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[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": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 324, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q01720;Q5T583;Q9UC71", "ec_number_list": [], "go_molecular_function": "GO:0046914 transition metal ion binding;GO:0005509 calcium ion binding;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0031012 extracellular matrix;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0001533 cornified envelope", "go_biological_process": "GO:0061436 establishment of skin barrier;GO:0030216 keratinocyte differentiation;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P20930-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23141-1", "uniprot_id": [ { "id": "EST1_HUMAN", "url": "https://www.uniprot.org/uniprot/P23141", "type": "external" } ], "mass": 62521.0, "length": 567, "protein_name": "Liver carboxylesterase 1", "gene_name": "CES1", "organism": "Human", "refseq_name": "liver carboxylesterase 1 isoform b precursor", "refseq_ac": [ { "id": "NP_001020365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020365", "type": "external" } ], "gene_names_uniprotkb": "CES1; CES2; SES1", "gene_names_refseq": "ACAT; CE-1; CEH; CES1; CES2; HMSE1; HMSE; PCE-1; REH; SES1; TGH; hCE-1", "protein_names_uniprotkb": "Liver carboxylesterase 1; 3.1.1.13; 3.1.1.1; 3.1.1.56; ACAT; Acyl-coenzyme A:cholesterol acyltransferase; Brain carboxylesterase hBr1; CE-1; CEH; Carboxylesterase 1; Cholesteryl ester hydrolase; Cocaine carboxylesterase; Egasyn; HMSE; Methylumbelliferyl-acetate deacetylase 1; Monocyte/macrophage serine esterase; REH; Retinyl ester hydrolase; Serine esterase 1; TGH; Triacylglycerol hydrolase; hCE-1", "protein_names_refseq": "acyl coenzyme A:cholesterol acyltransferase; brain carboxylesterase hBr1; carboxylesterase 1 (monocyte/macrophage serine esterase 1); carboxylesterase 2 (liver); cholesteryl ester hydrolase; cocaine carboxylesterase; egasyn; human monocyte/macrophage serine esterase 1; liver carboxylesterase 1 isoform b precursor; liver carboxylesterase 1; methylumbelliferyl-acetate deacetylase 1; retinyl ester hydrolase; triacylglycerol hydrolase", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); stomach cancer (Disease Ontology:DOID:10534); gastrointestinal system cancer (Disease Ontology:DOID:3119); liver cancer (Disease Ontology:DOID:3571); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:1066); (R-HSA-2022377); (R-HSA-211945); (R-HSA-5578768); (R-HSA-9749641)", "pathway_count": 5, "publication_count": 176, "publication_id_list": "10220572;10434065;10445380;10518925;10536878;10562416;10880574;10899625;10924499;10945627;10969042;11015575;11154734;11237011;11422004;11502696;11581266;11812220;11815627;12022871;12045255;12540854;12616642;12679808;12725862;12732646;12927775;1351198;13741103;14559895;14747736;15146390;15283675;15350128;15492766;15523003;15535985;16024911;16258079;16614850;1668266;1672777;16765324;16790432;16837570;16858120;16943252;16971496;17138938;17400359;17482904;1748313;17660514;17704566;1783992;18254726;18256025;18285471;18485328;1848554;1851160;18599737;18762277;19053771;1918003;19588076;19764817;19800993;19836360;19934029;1997784;20007405;20177059;20208391;20380117;20422440;20542992;2070086;20889553;21049984;2144260;22193701;2266130;22674043;22700792;22813719;23111421;23446738;23616950;23953689;24141856;24275569;24423752;2443571;24677340;24715725;24900196;25144769;25202235;25425164;25446851;2558510;25840124;25923589;26817948;26990595;2708524;27452731;27614009;2846041;28677105;2897122;29557506;29741879;3017438;30397120;31154438;31844290;32152082;32157095;32171872;32187464;32205870;32210741;32387766;32506827;32983136;33043033;33091337;33206527;33392160;3342084;34019948;34087483;35051231;36010968;36284347;36413357;36553492;3705620;37074911;37372371;37851403;38261266;383475;39190717;39894887;4289389;4322712;4330891;4360430;5013373;5773090;5862532;6269175;6270633;6303766;6777177;6807977;6838677;7206363;7802672;7980644;8049197;8218228;8406473;8597091;8985016;9144407;9169443;931988;9367528;9490062;9570564;9653080;975718", "class_list": "glycogene", "function": "High-Dose Methylphenidate and Carboxylesterase 1 Genetic Variability in Patients With Attention-Deficit/Hyperactivity Disorder: A Case Series., [RefSeq, PubMed]; Identification of regulatory variants of carboxylesterase 1 (CES1): A proof-of-concept study for the application of the Allele-Specific Protein Expression (ASPE) assay in identifying cis-acting regulatory genetic polymorphisms., [RefSeq, PubMed]; Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs (PubMed:18762277, PubMed:7980644, PubMed:9169443, PubMed:9490062). Hydrolyzes aromatic and aliphatic esters, but has no catalytic activity toward amides or a fatty acyl-CoA ester (PubMed:18762277, PubMed:7980644, PubMed:9169443, PubMed:9490062). Hydrolyzes the methyl ester group of cocaine to form benzoylecgonine (PubMed:7980644). Catalyzes the transesterification of cocaine to form cocaethylene (PubMed:7980644). Displays fatty acid ethyl ester synthase activity, catalyzing the ethyl esterification of oleic acid to ethyloleate (PubMed:7980644). Converts monoacylglycerides to free fatty acids and glycerol. Hydrolyzes of 2-arachidonoylglycerol and prostaglandins (PubMed:21049984). Hydrolyzes cellular cholesteryl esters to free cholesterols and promotes reverse cholesterol transport (RCT) by facilitating both the initial and final steps in the process (PubMed:11015575, PubMed:16024911, PubMed:16971496, PubMed:18762277). First of all, allows free cholesterol efflux from macrophages to extracellular cholesterol acceptors and secondly, releases free cholesterol from lipoprotein-delivered cholesteryl esters in the liver for bile acid synthesis or direct secretion into the bile (PubMed:16971496, PubMed:18599737, PubMed:18762277)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Pharmacogenetic study of CES1 gene and enalapril efficacy. Review article, [RefSeq, PubMed]; The Distribution of the Genotypes of ABCB1 and CES1 Polymorphisms in Kazakhstani Patients with Atrial Fibrillation Treated with DOAC. Publication Status: Online-Only, [RefSeq, PubMed]; The Influence of Structural Variants of the CES1 Gene on the Pharmacokinetics of Enalapril, Presumably Due to Linkage Disequilibrium with the Intronic rs2244613. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 793, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NIM1;A8K3K8;A8K844;E9PAU8;P82127;Q00015;Q13657;Q14062;Q16737;Q16788;Q549X7;Q549X8;Q86UK2;Q96EE8;Q9UC52;Q9UDG8;Q9UK77;Q9ULY2", "ec_number_list": [ { "id": "3.5.1.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.99", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.84", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.84", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.3.2.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.9", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.2.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.12", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.71", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" } ], "go_molecular_function": "GO:0004771 sterol ester esterase activity;GO:0047374 methylumbelliferyl-acetate deacetylase activity;GO:0050253 retinyl-palmitate esterase activity;GO:0106435 carboxylesterase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0070857 regulation of bile acid biosynthetic process;GO:0090122 cholesterol ester hydrolysis involved in cholesterol transport;GO:0008203 cholesterol metabolic process;GO:0010875 positive regulation of cholesterol efflux;GO:0030855 epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 19.3, "record_id": "P23141-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23610-1", "uniprot_id": [ { "id": "HAP40_HUMAN", "url": "https://www.uniprot.org/uniprot/P23610", "type": "external" } ], "mass": 39103.0, "length": 371, "protein_name": "40-kDa huntingtin-associated protein", "gene_name": "F8A1; F8A2; F8A3", "organism": "Human", "refseq_name": "40-kDa huntingtin-associated protein", "refseq_ac": [ { "id": "NP_001007524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007524", "type": "external" } ], "gene_names_uniprotkb": "F8A1; F8A2; F8A3", "gene_names_refseq": "F8A2; HAP40", "protein_names_uniprotkb": "40-kDa huntingtin-associated protein; CpG island protein; Factor VIII intron 22 protein; HAP40", "protein_names_refseq": "40-kDa huntingtin-associated protein; coagulation factor VIII-associated (intronic transcript) 2; cpG island protein; factor VIII intron 22 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:474383); (hsa:474384); (hsa:8263)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "16476778;2110545;22223895;23481700;24715725;24899227;25418920;25576301;26154972;26375851;26992070;27600516;27815841;27846572;27920218;28832583;28834231;28904123;29209146;29242379;29331515;29393594;29466333;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30484775;30524438;30833945;31154438;31217245;31530632;31844290;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33592498;33912179;33936100;33968037;34171305;34185709;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "RAB5A effector molecule that is involved in vesicular trafficking of early endosomes (PubMed:16476778). Mediates the recruitment of HTT by RAB5A onto early endosomes. The HTT-F8A1/F8A2/F8A3-RAB5A complex stimulates early endosomal interaction with actin filaments and inhibits interaction with microtubules, leading to the reduction of endosome motility (PubMed:16476778)., [UniProtKB, PubMed]; This gene is part of a region that is repeated three times on chromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the middle copy. Although its function is unknown, the observation that this gene is conserved in the mouse implies it has some function. Unlike factor VIII, this gene is transcribed abundantly in a wide variety of cell types. [provided by RefSeq, Jul 2008]., [RefSeq]; Thus these hydrophobic mutations at the A2 subunit interfaces result in high binding affinities for the A2 subunit and correlate well with previously observed reductions in rates in FVIIIa decay., [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": 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": "Q5HY66;Q8IXP3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005769 early endosome;GO:0016604 nuclear body", "go_biological_process": "GO:1901799 negative regulation of proteasomal protein catabolic process;GO:0099518 vesicle cytoskeletal trafficking", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P23610-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49354-1", "uniprot_id": [ { "id": "FNTA_HUMAN", "url": "https://www.uniprot.org/uniprot/P49354", "type": "external" } ], "mass": 44409.0, "length": 379, "protein_name": "Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha", "gene_name": "FNTA", "organism": "Human", "refseq_name": "protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha", "refseq_ac": [ { "id": "NP_002018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002018", "type": "external" } ], "gene_names_uniprotkb": "FNTA", "gene_names_refseq": "FNTA; FPTA; PGGT1A; PTAR2", "protein_names_uniprotkb": "Protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha; 2.5.1.58; 2.5.1.59; CAAX farnesyltransferase subunit alpha; FTase-alpha; GGTase-I-alpha; Ras proteins prenyltransferase subunit alpha; Type I protein geranyl-geranyltransferase subunit alpha", "protein_names_refseq": "FTase-alpha; GGTase-I-alpha; farnesyl-protein transferase alpha-subunit; farnesyltransferase, CAAX box, alpha; protein farnesyltransferase/geranylgeranyltransferase type-1 subunit alpha; protein prenyltransferase alpha subunit repeat containing 2; ras proteins prenyltransferase subunit alpha; type I protein geranyl-geranyltransferase alpha subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:2339); (R-HSA-111465); (R-HSA-2514859); (R-HSA-9648002); (R-HSA-9679191); (R-HSA-9953170)", "pathway_count": 6, "publication_count": 243, "publication_id_list": "10037746;10051575;10085068;10085069;10087012;10200466;10453075;10490026;10564809;10667208;10676965;11038283;11106668;11120601;11196150;11237011;11278797;11292825;11313965;11463840;11585916;11601986;11687658;11713293;11739732;11741893;11754336;12036349;12107159;12119397;12433685;12499365;12668660;12727204;12750467;12825937;1356371;1379636;1387789;1436039;14561760;14660603;14702087;14966563;15170324;15451670;15659645;15946941;16000296;16043511;16115318;16123041;16274222;16483930;16511497;16522641;16893176;16895762;16908407;16964243;16983089;17114291;17297457;17636946;17662961;18182391;18502828;18669648;18803695;19188362;19246009;19413330;19651622;19818506;1999465;20068231;20223979;20416930;20418879;20430952;20622895;20802526;20975703;21151871;21170358;21661760;21779505;21905185;21905186;22002721;22144181;22179043;22195972;22401777;22552008;22589270;22658984;22721555;22814904;23481700;23514631;23641311;23698361;23943869;24033119;24272870;24556848;24584101;24725411;24971579;2540796;2550422;25550383;25576301;2558719;25645385;25713064;25759176;25781681;25801024;25892735;26002965;26085527;26154972;26375851;26590425;2661017;26701913;26706195;26758079;26771141;26811146;2682646;26992070;27094677;27396271;27410739;27600516;27697864;27791178;27846572;28167504;28228285;28425720;28514659;28630138;28645896;28666118;28778966;28832583;28834231;28855257;28904123;29242379;29311131;29424242;29493099;29557506;29632711;29769354;29786170;29945920;3006923;30201761;30315122;30524438;30779550;31048504;31091448;31154438;31217245;31268602;3164688;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32510692;32581219;32877642;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33876762;33912179;33968037;33981976;34185709;34315531;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37316325;37938771;39394410;40914422;4772407;6264430;7512561;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8276393;8419339;8494894;8626439;8706659;8812493;8830800;8976194;9119368;9252332;9325343;9353336;9430683;9431985;9436858;9459445;9506952;9810004;9822558;9851253;9973322", "class_list": "", "function": "Essential subunit of both the farnesyltransferase and the geranylgeranyltransferase complex. Contributes to the transfer of a farnesyl or geranylgeranyl moiety from farnesyl or geranylgeranyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic-aliphatic-X. May positively regulate neuromuscular junction development downstream of MUSK via its function in RAC1 prenylation and activation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]., [RefSeq]; Protein farnesylation is upregulated in Alzheimer's human brains and neuron-specific suppression of farnesyltransferase mitigates pathogenic processes in Alzheimer's model mice. 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": 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": "A6NJW0;Q53XJ9;Q9UDC1", "ec_number_list": [ { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "type": "external" }, { "id": "2.5.1.58", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.58", "type": "external" }, { "id": "2.5.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.59", "type": "external" }, { "id": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "type": "external" } ], "go_molecular_function": "GO:0004660 protein farnesyltransferase activity;GO:0004661 protein geranylgeranyltransferase activity;GO:0004662 CAAX-protein geranylgeranyltransferase activity;GO:0004663 Rab geranylgeranyltransferase activity;GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0005953 CAAX-protein geranylgeranyltransferase complex;GO:0005965 protein farnesyltransferase complex;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0018343 protein farnesylation;GO:0035022 positive regulation of Rac protein signal transduction;GO:0018344 protein geranylgeranylation;GO:0071340 skeletal muscle acetylcholine-gated channel clustering", "synthesized_glycan_count": 0, "hit_score": 24.6, "record_id": "P49354-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51814-1", "uniprot_id": [ { "id": "ZNF41_HUMAN", "url": "https://www.uniprot.org/uniprot/P51814", "type": "external" } ], "mass": 93728.0, "length": 821, "protein_name": "Zinc finger protein 41", "gene_name": "ZNF41", "organism": "Human", "refseq_name": "zinc finger protein 41 isoform b", "refseq_ac": [ { "id": "NP_001311068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311068", "type": "external" } ], "gene_names_uniprotkb": "ZNF41", "gene_names_refseq": "MRX89; ZNF41", "protein_names_uniprotkb": "Zinc finger protein 41", "protein_names_refseq": "zinc finger protein 41 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:7592); (R-HSA-212436)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10235266;10330177;10449920;11237011;11395415;14519192;14628291;15175151;15896744;16606702;16719718;2037297;2163759;23871722;25880248;26992070;28832583;28904123;29242379;29786170;31154438;31217245;31844290;31848261;32157095;32357974;32983136;33968037;35051231;35580925;36284347;37217939;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein that contains KRAB-A and KRAB-B domains multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. An initial study suggested that this gene may be associated with X-linked cognitive disability, but a later study has called this finding into question (PMID:23871722).[provided by RefSeq, Apr 2016]., [RefSeq]; ZNF41 is critical for cognitive 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": 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": "A8K1V6;B4DH01;Q96LE8;Q9UMC4;Q9UMV5;Q9UMV6;Q9UMV7;Q9UMV8;Q9UMV9;Q9UMW0;Q9UMW1", "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": 3.9, "record_id": "P51814-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05BU3-1", "uniprot_id": [ { "id": "F86JP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05BU3", "type": "external" } ], "mass": 4003.0, "length": 40, "protein_name": "Putative protein FAM86JP", "gene_name": "FAM86JP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM86JP", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM86JP", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10.1101/2023.09.13.557529", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q8IW37", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q05BU3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06828-1", "uniprot_id": [ { "id": "FMOD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06828", "type": "external" } ], "mass": 43179.0, "length": 376, "protein_name": "Fibromodulin", "gene_name": "FMOD", "organism": "Human", "refseq_name": "fibromodulin precursor", "refseq_ac": [ { "id": "NP_002014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002014", "type": "external" } ], "gene_names_uniprotkb": "FMOD; FM; SLRR2E", "gene_names_refseq": "FMOD; FM; SLRR2E", "protein_names_uniprotkb": "Fibromodulin; Collagen-binding 59 kDa protein; FM; KSPG fibromodulin; Keratan sulfate proteoglycan fibromodulin", "protein_names_refseq": "KSPG fibromodulin; collagen-binding 59 kDa protein; epididymis secretory sperm binding protein; fibromodulin precursor; keratan sulfate proteoglycan fibromodulin", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); growth hormone insensitivity syndrome with immune dysregulation 1 (Disease Ontology:DOID:0080836); growth hormone insensitivity syndrome with immune dysregulation 2 (Disease Ontology:DOID:0080837); colon adenocarcinoma (Disease Ontology:DOID:234); gingivitis (Disease Ontology:DOID:3087); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hepatocellular carcinoma (Disease Ontology:DOID:684); periodontitis (Disease Ontology:DOID:824); tendinitis (Disease Ontology:DOID:971)", "pathway": " (hsa:2331); (R-HSA-2022854); (R-HSA-2022857); (R-HSA-3000178); (R-HSA-3656225); (R-HSA-3656243); (R-HSA-3656244)", "pathway_count": 7, "publication_count": 115, "publication_id_list": "10022829;10206952;10339611;10491328;10504389;10673326;11017086;11030741;11042166;11042394;11084047;11237011;11259413;11283017;11588157;11821425;11901181;12218059;12225811;12888274;1376317;14551184;1463457;14715956;15013869;15075323;1522213;15296743;1544908;15486459;15560372;15620693;15647514;16293224;16493581;17021253;17120046;1714903;17588949;1794986;18507432;1907800;19159218;1928092;20232353;2059554;21081667;21642437;21789315;21907012;22134916;22940367;23090970;23252400;2364322;2412224;24190977;2420006;2430969;25548167;27726376;28855257;29093164;29557506;29632711;2971395;29741879;29789417;30459171;30573663;31844290;3196333;32157095;33043033;33392160;33592498;33887734;34247360;35051231;35580925;35686032;35737114;35982394;37074911;38034954;5822067;6193777;6439184;7213753;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8093006;8333853;8357838;8440685;8611500;8798654;8920913;8943283;9252349;9294172;9341124;9346959;9405439;9417100;9521684;9597550;9685393;9949188", "class_list": "glycogene", "function": "A novel ADC targeting cell surface fibromodulin in a mouse model of triple-negative breast cancer., [RefSeq, PubMed]; Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis (By similarity)., [UniProtKB]; Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis., [UniProtKB, UniProtKB]; Coupled fibromodulin and SOX2 signaling as a critical regulator of metastatic outgrowth in melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; Fibromodulin Gene Variants (FMOD) as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia. Publication Status: Online-Only, [RefSeq, PubMed]; Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [RefSeq]; Identification of Lumican and Fibromodulin as Hub Genes Associated with Accumulation of Extracellular Matrix in Diabetic Nephropathy., [RefSeq, PubMed]; The Association of Cell Surface Fibromodulin Expression and Bladder Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 489, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 105, "disease_count": 10, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q15331;Q8IV47", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0031012 extracellular matrix;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0030199 collagen fibril organization;GO:0007181 transforming growth factor beta receptor complex assembly", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "Q06828-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08E93-1", "uniprot_id": [ { "id": "F27E3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08E93", "type": "external" } ], "mass": 13507.0, "length": 113, "protein_name": "Protein FAM27E3", "gene_name": "FAM27E3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM27E3", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM27E3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q08E93-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16134-1", "uniprot_id": [ { "id": "ETFD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16134", "type": "external" } ], "mass": 68495.0, "length": 617, "protein_name": "Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial", "gene_name": "ETFDH", "organism": "Human", "refseq_name": "electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001268666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268666", "type": "external" } ], "gene_names_uniprotkb": "ETFDH", "gene_names_refseq": "ETFDH; ETFQO; MADD", "protein_names_uniprotkb": "Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; 1.5.5.1; ETF dehydrogenase; ETF-QO; ETF-ubiquinone oxidoreductase; Electron-transferring-flavoprotein dehydrogenase", "protein_names_refseq": "ETF dehydrogenase; ETF-QO; ETF-ubiquinone oxidoreductase; electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial isoform 2; electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial; electron-transferring-flavoprotein dehydrogenase; mutant electron transfer flavoprotein dehydrogenase", "tax_id": 9606, "disease": "multiple acyl-CoA dehydrogenase deficiency (Disease Ontology:DOID:0060358)", "pathway": " (hsa:2110); (R-HSA-611105)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10327278;11237011;11695836;12049629;12231006;12359134;12815589;12837546;1327877;14741580;15250827;16230336;16527485;16959974;17033964;17412732;186667;19249206;20370797;23150584;23270816;23564345;23747254;239860;24275569;25564869;28904123;29557506;31844290;32157095;32938616;32983136;33912179;34704421;34782606;38665916;39455656;4288886;8306995;9878551", "class_list": "", "function": "Accepts electrons from ETF and reduces ubiquinone., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Expression from a baculovirus vector and kinetic and spectral characteristics, [RefSeq, PubMed]; Links fatty acid beta-oxidation and amino acid catabolism to the respiratory chain by transferring electrons from the electron transfer flavoprotein (ETF) to ubiquinone., [UniProtKB, PubMed]; Multiple acyl-CoA dehydrogenase deficiency kills Mycobacterium tuberculosis in vitro and during infection. Publication Status: Online-Only, [RefSeq, PubMed]; Patients had autosomal recessive mutations in ETFDH, suggesting ETFDH deficiency leads to a secondary CoQ10 deficiency; results indicate that the late-onset form of glutaric aciduria type II & the myopathic form of CoQ10 deficiency are allelic diseases, [RefSeq, PubMed]; Screening of multiple acyl-CoA dehydrogenase deficiency in newborns and follow-up of patients., [RefSeq, PubMed]; This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4E3R9;J3KND9;Q7Z347", "ec_number_list": [ { "id": "1.5.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.5.1", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0050660 flavin adenine dinucleotide binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0022900 electron transport chain;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q16134-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q52LJ0-2", "uniprot_id": [ { "id": "FA98B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q52LJ0", "type": "external" } ], "mass": 45547.0, "length": 433, "protein_name": "tRNA-splicing ligase complex subunit FAM98B", "gene_name": "FAM98B", "organism": "Human", "refseq_name": "tRNA-splicing ligase complex subunit FAM98B", "refseq_ac": [ { "id": "NP_775882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775882", "type": "external" } ], "gene_names_uniprotkb": "FAM98B", "gene_names_refseq": "FAM98B", "protein_names_uniprotkb": "tRNA-splicing ligase complex subunit FAM98B", "protein_names_refseq": "protein FAM98B; tRNA-splicing ligase complex subunit FAM98B", "tax_id": 9606, "disease": "", "pathway": " (hsa:283742); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10444065;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15317868;16361254;16710424;17204286;17224653;18226598;18445686;18809514;18984158;20068231;20305658;21311021;21450806;21559454;21593607;22944664;24608264;2470644;24870230;25640237;25849199;28040436;29557506;30779550;30833945;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33691108;33717175;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34229054;35051231;35251023;35580925;36284347;37938771;40914422;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "Accessory subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substrate specificity and may function toward other RNAs (PubMed:21311021, PubMed:24870230). Could regulate the expression of PRMT1, a protein arginine N-methyltransferase (PubMed:28040436)., [UniProtKB, PubMed, PubMed, PubMed]; HCLE/C14orf166 associates with DDX1, HSPC117, and FAM98B in a novel transcription-dependent shuttling RNA-transporting complex. Publication Status: Online-Only, [RefSeq, PubMed]; The two structural homologs FAM98A and FAM98B included in a novel complex with DDX1 and C14orf166 are required for PRMT1 expression in colorectal cancer 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": 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": "A8MUW5;Q8N935", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0008276 protein methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0072669 tRNA-splicing ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0006479 protein methylation;GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q52LJ0-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53EP0-1", "uniprot_id": [ { "id": "FND3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53EP0", "type": "external" } ], "mass": 132888.0, "length": 1204, "protein_name": "Fibronectin type III domain-containing protein 3B", "gene_name": "FNDC3B", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 3B", "refseq_ac": [ { "id": "NP_001128567", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128567", "type": "external" } ], "gene_names_uniprotkb": "FNDC3B; FAD104; NS5ABP37; PRO34274", "gene_names_refseq": "FAD104; FNDC3B; PRO4979; YVTM2421", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 3B; Factor for adipocyte differentiation 104; HCV NS5A-binding protein 37", "protein_names_refseq": "HCV NS5A-binding protein 37; circ0001361; factor for adipocyte differentiation 104; fibronectin type III domain-containing protein 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:64778)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "11237011;12975309;15564382;16303743;16959974;17924679;18669648;19472311;19664994;20068231;20112406;20237496;23186163;23481700;24714562;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26992070;27058226;27600516;27846572;27862975;27920218;28832583;28834231;28904123;29093164;29242379;29331515;29371260;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30418433;30429286;30484775;30779550;31217245;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36446779;36738165;36980976;37667251;37938771;38581008;38665916;39302247;40136647", "class_list": "", "function": "CircFNDC3B promotes esophageal squamous cell carcinoma progression by targeting MYO5A via miR-370-3p/miR-136-5p. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0000285 regulates nasopharyngeal carcinoma progression through miR-1278/FNDC3B axis., [RefSeq, PubMed]; Identification of fibronectin type III domain containing 3B as a potential prognostic and therapeutic target for pancreatic cancer: a preliminary analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Lack of Association of Polymorphism Located Upstream of ABCA1 (rs2472493), in FNDC3B (rs7636836), and Near ANKRD55-MAP3K1 Genes (rs61275591) in Primary Open-Angle Glaucoma Patients of Saudi Origin. Publication Status: Online-Only, [RefSeq, PubMed]; M[6]A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation. Publication Status: Online-Only, [RefSeq, PubMed]; May be a positive regulator of adipogenesis., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Up-regulation of miR-143 expression transcribed by NF-kappaB in hepatitis B virus-related hepatocellular carcinoma promotes cancer cell invasion/migration and tumor metastasis by repression of FNDC3B 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": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RB36;B3KXR8;D3DNQ7;Q5U5T8;Q6PIJ3;Q6UXG1;Q6UXZ5;Q8IXB2;Q8NBU7;Q96D78;Q9H5I7;Q9NSQ8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q53EP0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53RD9-1", "uniprot_id": [ { "id": "FBLN7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53RD9", "type": "external" } ], "mass": 47376.0, "length": 439, "protein_name": "Fibulin-7", "gene_name": "FBLN7", "organism": "Human", "refseq_name": "fibulin-7 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001121637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121637", "type": "external" } ], "gene_names_uniprotkb": "FBLN7; TM14", "gene_names_refseq": "FBLN7; TM14", "protein_names_uniprotkb": "Fibulin-7; FIBL-7", "protein_names_refseq": "FIBL-7; fibulin-7 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:129804)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1038/emboj.2013.79;11237011;19229767;23584533;24480309;24694933;29557506;29741879;30459171;30924128;30958601;32783359;32938616;33968037;34411563;36010968;36370444;37074911;37344348;39894887", "class_list": "", "function": "An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Dysregulation of fibulin expression by anti-Ro/SSA antibodiess may contribute to disorganization of the extracellular environment and thus cause injury to the salivary gland architecture and functionality observed in Sjogren syndrome, [RefSeq, PubMed]; Fbln7-C terminal fragment inhibited the HUVEC tube formation and the vessel sprouting in aortic ring assays., [RefSeq, PubMed]; Fibulin-7 (Fbln7) bound to angiopoietin-1 through interaction between the N-terminal portions of Fbln7 and angiopoietin-1., [RefSeq, PubMed]; Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation., [RefSeq, PubMed]; Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals., [RefSeq, PubMed]; 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]; Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis., [RefSeq, PubMed]; This is the first report which confirms the presence of ligatin and fibulin-7 in human aqueous humor, quantified their differential expression, and indicated the possibility of their involvement in the maintenance of the trabecular meshwork structure in glaucoma progression., [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": 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": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0JNV1;A0JNV2;Q5H9P5;Q8N9G0", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005925 focal adhesion;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q53RD9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BKY9-1", "uniprot_id": [ { "id": "F133B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BKY9", "type": "external" } ], "mass": 28385.0, "length": 247, "protein_name": "Protein FAM133B", "gene_name": "FAM133B", "organism": "Human", "refseq_name": "protein FAM133B isoform 2", "refseq_ac": [ { "id": "NP_001035146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035146", "type": "external" } ], "gene_names_uniprotkb": "FAM133B", "gene_names_refseq": "FAM133B", "protein_names_uniprotkb": "Protein FAM133B", "protein_names_refseq": "protein FAM133B isoform 2; protein FAM133B", "tax_id": 9606, "disease": "", "pathway": " (hsa:257415)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;17081983;18452278;18669648;19651622;19690332;20068231;21406692;23186163;27846572;27920218;28832583;29242379;29557506;31217245;31844290;31848261;32157095;32387766;32502341;32938616;33141586;33298915;33717175;33936100;34561969;35051231;36241641;38665916", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R994;Q05D67;Q6P5S6;Q8N0W8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q5BKY9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5D862-1", "uniprot_id": [ { "id": "FILA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5D862", "type": "external" } ], "mass": 248073.0, "length": 2391, "protein_name": "Filaggrin-2", "gene_name": "FLG2", "organism": "Human", "refseq_name": "filaggrin-2", "refseq_ac": [ { "id": "NP_001014364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014364", "type": "external" } ], "gene_names_uniprotkb": "FLG2; IFPS", "gene_names_refseq": "FLG2; IFPS; PSS6", "protein_names_uniprotkb": "Filaggrin-2; FLG-2; Ifapsoriasin; Intermediate filament-associated and psoriasis-susceptibility protein", "protein_names_refseq": "filaggrin family member 2; filaggrin-2; ifapsoriasin; intermediate filament-associated and psoriasis susceptibility protein", "tax_id": 9606, "disease": "peeling skin syndrome 6 (Disease Ontology:DOID:0070525)", "pathway": " (hsa:388698); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "19384417;19601998;20068231;21531719;23481700;23650620;23719902;26371476;26375851;26853435;27920218;28649982;28884927;29317506;29393594;29505760;29557506;29605689;29758285;29786170;30397120;30524438;31079484;31844290;32341456;32350084;32437351;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34543471;34984527;35051231;35251023;35561310;35580925;36930145;37938771;38665916;8692836", "class_list": "", "function": "Calpain 1 is essential for the proteolytic processing of FLG2 and that deimination accelerates this process., [RefSeq, PubMed]; Data suggest that innate immunity of skin involves FLG2, which is expressed in high abundance in upper epidermis/eccrine sweat glands; C-terminal peptide fragments of FLG2 exhibit antimicrobial functions against replication of Pseudomonas aeruginosa and E. coli. Publication Status: Online-Only, [RefSeq, PubMed]; Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity., [RefSeq, PubMed]; Essential for normal cell-cell adhesion in the cornified cell layers (PubMed:29758285). Important for proper integrity and mechanical strength of the stratum corneum of the epidermis (PubMed:29505760)., [UniProtKB, PubMed, PubMed]; FLG2 and filaggrin may have overlapping and perhaps synergistic roles in the formation of the epidermal barrier, protecting the skin from environmental insults and the escape of moisture by offering precursors of natural moisturizing factors, [RefSeq, PubMed]; Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation. Publication Status: Online-Only, [RefSeq, PubMed]; In a stop codon variant (rs12568784 G/T) in the FLG2 gene., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Scleral Proteome in Noninfectious Scleritis Unravels Upregulation of Filaggrin-2 and Signs of Neovascularization., [RefSeq, PubMed]; The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]., [RefSeq]; Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q9H4U1", "ec_number_list": [], "go_molecular_function": "GO:0046914 transition metal ion binding;GO:0005198 structural molecule activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:1904724 tertiary granule lumen;GO:0001533 cornified envelope", "go_biological_process": "GO:0007155 cell adhesion;GO:0061436 establishment of skin barrier;GO:0048730 epidermis morphogenesis", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q5D862-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MNV8-1", "uniprot_id": [ { "id": "FBX47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MNV8", "type": "external" } ], "mass": 51968.0, "length": 452, "protein_name": "F-box only protein 47", "gene_name": "FBXO47", "organism": "Human", "refseq_name": "F-box only protein 47", "refseq_ac": [ { "id": "NP_001008777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008777", "type": "external" } ], "gene_names_uniprotkb": "FBXO47", "gene_names_refseq": "FBXO47", "protein_names_uniprotkb": "F-box only protein 47", "protein_names_refseq": "F-box only protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:494188)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "15723337;28397838;30379171;31724724;35051231", "class_list": "", "function": "A novel mechanism of FBXO47 in telomeric shelterin subunit stabilization during meiosis., [RefSeq, PubMed]; FBXO47 is preferentially expressed in normal tissue relative to the corresponding tumor tissue, particularly in the kidney, liver, and pancreas., [RefSeq, PubMed]; Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation., [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": 22, "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": "B2RTZ4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5MNV8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6X4-1", "uniprot_id": [ { "id": "F162B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6X4", "type": "external" } ], "mass": 17685.0, "length": 162, "protein_name": "Protein FAM162B", "gene_name": "FAM162B", "organism": "Human", "refseq_name": "protein FAM162B", "refseq_ac": [ { "id": "NP_001078949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078949", "type": "external" } ], "gene_names_uniprotkb": "FAM162B; C6orf189", "gene_names_refseq": "C6orf189; FAM162B; bA86F4.2", "protein_names_uniprotkb": "Protein FAM162B", "protein_names_refseq": "protein FAM162B", "tax_id": 9606, "disease": "", "pathway": " (hsa:221303)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "30779550", "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": "Q8IXW8", "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": "Q5T6X4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T7N8-1", "uniprot_id": [ { "id": "F27D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T7N8", "type": "external" } ], "mass": 24905.0, "length": 215, "protein_name": "Protein FAM27D1", "gene_name": "FAM27D1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM27D1", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM27D1", "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": "Q5VSL6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5T7N8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T8I3-1", "uniprot_id": [ { "id": "EEIG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T8I3", "type": "external" } ], "mass": 39308.0, "length": 360, "protein_name": "EEIG family member 2", "gene_name": "EEIG2", "organism": "Human", "refseq_name": "EEIG family member 2", "refseq_ac": [ { "id": "NP_001010883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010883", "type": "external" } ], "gene_names_uniprotkb": "EEIG2; FAM102B", "gene_names_refseq": "EEIG2; FAM102B; SYM-3B", "protein_names_uniprotkb": "EEIG family member 2; EEIG2", "protein_names_refseq": "EEIG family member 2; family with sequence similarity 102 member B; protein FAM102B; sym-3 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:284611)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "17081983;17693683;18452278;18669648;22706990;23186163;24366607;27600516;27920218;28411811;28510447;28514659;28832583;29242379;29393594;29557506;29632711;29786170;30429286;30484775;31154438;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33912179;33968037;34087483;34405274;35051231;35580925;36241641;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A1L1A1;B0QZ46;B0QZ47;Q68DH7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q5T8I3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TGI0-1", "uniprot_id": [ { "id": "FAXC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TGI0", "type": "external" } ], "mass": 46843.0, "length": 409, "protein_name": "Failed axon connections homolog", "gene_name": "FAXC", "organism": "Human", "refseq_name": "failed axon connections homolog isoform 2", "refseq_ac": [ { "id": "NP_001333459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333459", "type": "external" } ], "gene_names_uniprotkb": "FAXC; C6orf168", "gene_names_refseq": "C6orf168; FAXC; dJ273F20", "protein_names_uniprotkb": "Failed axon connections homolog", "protein_names_refseq": "failed axon connections homolog isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84553)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28228285;32157095;32938616", "class_list": "", "function": "May play a role in axonal development., [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": "B3KU39;Q96F61;Q96LU3;Q9BR58;Q9BSS2", "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": "Q5TGI0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5XUX1-3", "uniprot_id": [ { "id": "FBXW9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5XUX1", "type": "external" } ], "mass": 50760.0, "length": 458, "protein_name": "F-box/WD repeat-containing protein 9", "gene_name": "FBXW9", "organism": "Human", "refseq_name": "F-box/WD repeat-containing protein 9", "refseq_ac": [ { "id": "NP_115677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115677", "type": "external" } ], "gene_names_uniprotkb": "FBXW9; FBW9", "gene_names_refseq": "FBXW9; Fbw9; MEC-15", "protein_names_uniprotkb": "F-box/WD repeat-containing protein 9; F-box and WD-40 domain-containing protein 9", "protein_names_refseq": "F-box and WD-40 domain protein 9; F-box and WD-40 domain-containing protein 9; F-box and WD-40 repeat containing protein 9; F-box/WD repeat-containing protein 9; specificity factor for SCF ubiquitin ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:84261); (R-HSA-390471); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 161, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;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;15520277;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18452278;18662542;18669648;18767875;18775313;18775504;18776931;18805092;18826954;18851830;18926707;19011634;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19690332;19748355;19851334;19874575;19940261;21098288;21447816;21463634;21778237;21863050;21940857;21995946;22306028;22466964;22537386;2261476;22959436;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23747015;23912815;23986495;24076655;24275569;24366543;24636985;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25467444;25531226;25645385;26344709;26375851;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28832583;28834231;29153394;29242379;30610225;30779550;31092671;32005965;32157095;32161166;32284348;32897882;32938616;33444648;33691108;33912179;33981976;35051231;36982338;39894887;9380723;9668046;9790970;9819444;9887101;9891082", "class_list": "", "function": "A Comprehensive Analysis Revealing FBXW9 as a Potential Prognostic and Immunological Biomarker in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVP7;Q9BT89", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "Q5XUX1-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6DN72-1", "uniprot_id": [ { "id": "FCRL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6DN72", "type": "external" } ], "mass": 47748.0, "length": 434, "protein_name": "Fc receptor-like protein 6", "gene_name": "FCRL6", "organism": "Human", "refseq_name": "Fc receptor-like protein 6 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001004310", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004310", "type": "external" } ], "gene_names_uniprotkb": "FCRL6; FCRH6", "gene_names_refseq": "FCRL6; FcRH6", "protein_names_uniprotkb": "Fc receptor-like protein 6; Fc receptor homolog 6; FcR-like protein 6; FcRH6; FcRL6; IFGP6", "protein_names_refseq": "Fc receptor-like protein 6 isoform 1 precursor; Fc receptor-like protein 7; IFGP6; IgSF type I transmembrane receptor; fc receptor homolog 6; fc receptor-like protein 6; fcR-like protein 6; leukocyte receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:343413)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17213291;18991291;20519654;20933011;35051231", "class_list": "", "function": "Acts as a MHC class II receptor (PubMed:20519654). When stimulated on its own, does not play a role in cytokine production or the release of cytotoxic granules by NK cells and cytotoxic CD8(+) T cells (PubMed:17213291, PubMed:18991291). Does not act as an Fc receptor (PubMed:18991291)., [UniProtKB, PubMed, PubMed, PubMed]; FCRL6 is a distinct indicator of cytotoxic effector lymphocytes that is upregulated in diseases characterized by chronic immune stimulation., [RefSeq, PubMed]; Human FCRL6 receptor, selectively expressed by cytotoxic T and natural killer (NK) cells, directly binds the major histocompatibility complex (MHC) class II molecule HLA-DR., [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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "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": "A1KXW6;A2A4D6;Q6DN73;Q6XRC3;Q6ZNI1", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0019903 protein phosphatase binding;GO:0019902 phosphatase binding;GO:0042289 MHC class II protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6DN72-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6J272-1", "uniprot_id": [ { "id": "CMI2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6J272", "type": "external" } ], "mass": 36165.0, "length": 317, "protein_name": "Ciliary microtubule inner protein 2A", "gene_name": "CIMIP2A", "organism": "Human", "refseq_name": "ciliary microtubule inner protein 2A", "refseq_ac": [ { "id": "NP_001001710", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001710", "type": "external" } ], "gene_names_uniprotkb": "CIMIP2A; FAM166A; HSD46", "gene_names_refseq": "CIMIP2A; FAM166A; HSD46", "protein_names_uniprotkb": "Ciliary microtubule inner protein 2A", "protein_names_refseq": "ciliary microtubule inner protein 2A; family with sequence similarity 166 member A; protein FAM166A", "tax_id": 9606, "disease": "", "pathway": " (hsa:401565)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25892735;29557506;30484775;34932366;35051231;37217939", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in flagellum axoneme. Binds to the intra-tubulin interfaces., [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": 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": "A6NND9;Q8N830", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0036126 sperm flagellum;GO:0036064 ciliary basal body;GO:0160111 axonemal A tubule inner sheath;GO:0005929 cilium", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6J272-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVX7-1", "uniprot_id": [ { "id": "FBX50_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVX7", "type": "external" } ], "mass": 30847.0, "length": 275, "protein_name": "F-box only protein 50", "gene_name": "NCCRP1", "organism": "Human", "refseq_name": "F-box only protein 50", "refseq_ac": [ { "id": "NP_001001414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001414", "type": "external" } ], "gene_names_uniprotkb": "NCCRP1; FBXO50", "gene_names_refseq": "FBXO50; NCCRP-1; NCCRP1", "protein_names_uniprotkb": "F-box only protein 50; NCC receptor protein 1 homolog; NCCRP-1; Non-specific cytotoxic cell receptor protein 1 homolog", "protein_names_refseq": "F-box only protein 50; NCC receptor protein 1 homolog; non-specific cytotoxic cell receptor protein 1 homolog; nonspecific cytotoxic cell receptor protein 1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:342897)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "22087255;26374642;28560594;30397120;30779550;31154438;31844290;33214551", "class_list": "", "function": "High FBXO50 expression is associated with Gastric Cancer., [RefSeq, PubMed]; Promotes cell proliferation., [UniProtKB, PubMed]; To characterize human NCCRP1 and to elucidate its relationship to carbonic anhydrase IX, [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": 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": "Q6NVV5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0036503 ERAD pathway;GO:0006516 glycoprotein catabolic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6ZVX7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z309-1", "uniprot_id": [ { "id": "PBIR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z309", "type": "external" } ], "mass": 26928.0, "length": 247, "protein_name": "PABIR family member 2", "gene_name": "PABIR2", "organism": "Human", "refseq_name": "PABIR family member 2 isoform 2", "refseq_ac": [ { "id": "NP_001160071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160071", "type": "external" } ], "gene_names_uniprotkb": "PABIR2; FAM122B", "gene_names_refseq": "FAM122B; PABIR2; SPACIA2", "protein_names_uniprotkb": "PABIR family member 2", "protein_names_refseq": "PABIR family member 2 isoform 2; family with sequence similarity 122B; protein FAM122B; synoviocyte proliferation associated in collagen-induced arthritis 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:159090)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;16964243;17081983;18220336;18669648;19690332;20068231;21406692;23186163;24129315;25576301;25645385;26154972;29493099;29557506;30379171;31217245;31373491;31844290;32157095;33592498;35580925", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K902;Q6PIM2;Q6ZU47;Q6ZV64;Q6ZVE4;Q8TB75", "ec_number_list": [], "go_molecular_function": "GO:0004865 protein serine/threonine phosphatase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q7Z309-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VR8-1", "uniprot_id": [ { "id": "FJX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VR8", "type": "external" } ], "mass": 48507.0, "length": 437, "protein_name": "Four-jointed box protein 1", "gene_name": "FJX1", "organism": "Human", "refseq_name": "four-jointed box protein 1", "refseq_ac": [ { "id": "NP_055159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055159", "type": "external" } ], "gene_names_uniprotkb": "FJX1", "gene_names_refseq": "FJX1", "protein_names_uniprotkb": "Four-jointed box protein 1; Four-jointed protein homolog", "protein_names_refseq": "four jointed box 1; four-jointed box protein 1; four-jointed protein homolog; putative secreted ligand homologous to fjx1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:24147)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10568747;25150169;26992070;28673206;28855257;29242379;30193086;31236144;31844290;32159255;32350084;32354225;33141586;33298915;33392160;33936100;33981976;34357683;35051231;35251023;35278814;37439170", "class_list": "", "function": "Acts as an inhibitor of dendrite extension and branching., [UniProtKB]; FJX1 does not influence the levels of FAT1 ectodomain phosphorylation., [RefSeq, PubMed]; FJX1 transcript and protein level is upregulated in nasopharyngeal carcinoma tissue samples. FJX1 promotes cell proliferation, anchorage-dependent growth, and cellular invasion in vitro. Publication Status: Online-Only, [RefSeq, PubMed]; FOXD3-AS1 Contributes to the Progression of Melanoma Via miR-127-3p/FJX1 Axis., [RefSeq, PubMed]; MiR-532-3p suppresses cell proliferation, migration and invasion of colon adenocarcinoma via targeting FJX1., [RefSeq, PubMed]; MicroRNA-1249 targets four-jointed box kinase 1 and reduces cell proliferation, migration and invasion of colon adenocarcinoma., [RefSeq, PubMed]; The protein encoded by this gene is the human ortholog of mouse and Drosophila four-jointed gene product. The Drosophila protein is important for growth and differentiation of legs and wings, and for proper development of the eyes. The exact function of this gene in humans is not known. [provided by RefSeq, Jul 2008]., [RefSeq]; The results of our Western blot analysis reveal a significant positive correlation between FJX1 and HIF1alpha proteins in endometrium of women with and without endometriosis., [RefSeq, PubMed]; [FJX1 overexpression is associated with poor prognosis and promotes gastric cancer proliferation via the PI3K/AKT signaling pathway]., [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": 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": "B2RCA9;Q9UGK6", "ec_number_list": [], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q86VR8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WN1-1", "uniprot_id": [ { "id": "FCSD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WN1", "type": "external" } ], "mass": 76942.0, "length": 690, "protein_name": "F-BAR and double SH3 domains protein 1", "gene_name": "FCHSD1", "organism": "Human", "refseq_name": "F-BAR and double SH3 domains protein 1", "refseq_ac": [ { "id": "NP_258260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_258260", "type": "external" } ], "gene_names_uniprotkb": "FCHSD1; PRO1431", "gene_names_refseq": "FCHSD1; NWK2", "protein_names_uniprotkb": "F-BAR and double SH3 domains protein 1; NWK2; Protein nervous wreck 2", "protein_names_refseq": "F-BAR and double SH3 domains protein 1; FCH and double SH3 domains protein 1; nervous wreck homolog 2; protein nervous wreck 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:89848)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;12975309;15067381;19913121;20628086;24275569;25418920;26811146;27846572;27920218;28063628;28904123;29393594;29557506;29632046;29632711;29887380;30315122;30410026;31844290;32157095;32357974;32387766;32938616;33592498;33912179;33968037;34357683;35051231", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Promotes actin polymerization mediated by SNX9 and WASL., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6UX75;Q86Y77;Q9NXX8", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031594 neuromuscular junction;GO:0043204 perikaryon;GO:0055037 recycling endosome;GO:0042995 cell projection", "go_biological_process": "GO:0007274 neuromuscular synaptic transmission;GO:0061024 membrane organization;GO:0030838 positive regulation of actin filament polymerization;GO:0030833 regulation of actin filament polymerization;GO:1902905 positive regulation of supramolecular fiber organization", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q86WN1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3Y1-1", "uniprot_id": [ { "id": "FBXW8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3Y1", "type": "external" } ], "mass": 67394.0, "length": 598, "protein_name": "F-box/WD repeat-containing protein 8", "gene_name": "FBXW8", "organism": "Human", "refseq_name": "F-box/WD repeat-containing protein 8 isoform 2", "refseq_ac": [ { "id": "NP_036306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036306", "type": "external" } ], "gene_names_uniprotkb": "FBXW8; FBW6; FBW8; FBX29; FBXO29; FBXW6", "gene_names_refseq": "FBW6; FBW8; FBX29; FBXO29; FBXW6; FBXW8", "protein_names_uniprotkb": "F-box/WD repeat-containing protein 8; F-box and WD-40 domain-containing protein 8; F-box only protein 29", "protein_names_refseq": "F-box and WD-40 domain protein 8; F-box and WD-40 domain-containing protein 8; F-box only protein 29; F-box/WD repeat-containing protein 8 isoform 2; F-box/WD repeat-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:26259); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 187, "publication_id_list": "10531037;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12481031;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;12904573;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17205132;17220875;17332328;17497243;17785452;18093314;18206966;18498745;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21572988;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24362026;24366543;24397554;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;25880248;25892735;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28115426;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29153394;29242379;29437277;29557506;29769354;29786170;30315122;30410026;30429286;30524438;30610225;31154438;31530632;31844290;31848261;32005965;32157095;32161166;32284348;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33392160;33444648;33691108;33717175;33912179;33968037;33981976;34171305;34932366;35051231;35580925;35982156;36400179;36581221;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXW8 plays an essential role in cancer cell proliferation through proteolysis of cyclin D1. It may present new opportunities to develop therapies targeting destruction of cyclin D1 or its regulator E3 ligase selectively. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans., [RefSeq, PubMed]; Substrate-recognition component of the Cul7-RING(FBXW8) ubiquitin ligase complex, which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:17205132, PubMed:18498745, PubMed:21572988, PubMed:24362026, PubMed:35982156). The Cul7-RING(FBXW8) complex mediates ubiquitination and consequent degradation of GORASP1, acting as a component of the ubiquitin ligase pathway that regulates Golgi morphogenesis and dendrite patterning in brain (PubMed:21572988). Mediates ubiquitination and degradation of IRS1 in a mTOR-dependent manner: the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previously phosphorylated by S6 kinase (RPS6KB1 or RPS6KB2) (PubMed:18498745). The Cul7-RING(FBXW8) complex also mediates ubiquitination of MAP4K1/HPK1: recognizes and binds autophosphorylated MAP4K1/HPK1, leading to its degradation, thereby affecting cell proliferation and differentiation (PubMed:24362026). The Cul7-RING(FBXW8) complex also mediates ubiquitination of phosphorylated cyclin-D1 (CCND1) (PubMed:17205132). The Cul7-RING(FBXW8) complex is however not a major regulator of CCND1 stability during the G1/S transition (By similarity). Associated component of the 3M complex, suggesting that it mediates some of 3M complex functions (PubMed:24793695)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9UK95", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0031467 Cul7-RING ubiquitin ligase complex;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0008283 cell population proliferation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0060271 cilium assembly;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "Q8N3Y1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N531-1", "uniprot_id": [ { "id": "FBXL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N531", "type": "external" } ], "mass": 58558.0, "length": 539, "protein_name": "F-box/LRR-repeat protein 6", "gene_name": "FBXL6", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 6 isoform 1", "refseq_ac": [ { "id": "NP_036294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036294", "type": "external" } ], "gene_names_uniprotkb": "FBXL6; FBL6", "gene_names_refseq": "FBL6A; FBL6; FBXL6; PP14630", "protein_names_uniprotkb": "F-box/LRR-repeat protein 6; F-box and leucine-rich repeat protein 6; F-box protein FBL6; FBL6A", "protein_names_refseq": "F-box protein Fbl6; F-box/LRR-repeat protein 6 isoform 1; F-box/LRR-repeat protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:26233)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10531035;18426905;23481700;25418920;25645385;26375851;27920218;28832583;29242379;29508533;29632711;29786170;29789417;30315122;30833945;31092671;31848261;31937595;31998317;32161166;33568778;35606330;36284347;37267103;38253038;40596516", "class_list": "", "function": "FBXL6 degrades phosphorylated p53 to promote tumor growth., [RefSeq, PubMed]; FBXL6 is dysregulated in keloids and promotes keloid fibroblast growth by inducing c-Myc expression., [RefSeq, PubMed]; Fbl6 regulates Tel/Yan protein stability and allows appropriate spatiotemporal control of gene expression by these repressors., [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB]; The E3 ubiquitin ligase FBXL6 controls the quality of newly synthesized mitochondrial ribosomal proteins., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q53G43;Q9H5W9;Q9UKC7", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0006508 proteolysis;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8N531-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA97-1", "uniprot_id": [ { "id": "FEAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA97", "type": "external" } ], "mass": 15156.0, "length": 138, "protein_name": "Putative uncharacterized protein FER1L6-AS1", "gene_name": "FER1L6-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FER1L6-AS1; C8orf54", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FER1L6-AS1; FER1L6 antisense RNA 1; FER1L6 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "31848261", "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": "B2RPB9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8NA97-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFI4-1", "uniprot_id": [ { "id": "F10A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFI4", "type": "external" } ], "mass": 41378.0, "length": 369, "protein_name": "Putative protein FAM10A5", "gene_name": "ST13P5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ST13P5; FAM10A5", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FAM10A5; Suppression of tumorigenicity 13 pseudogene 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 15, "publication_id_list": "12079276;25502872;27452731;29242379;29437277;29557506;29671580;31611695;31844290;32162841;33043033;33592498;33981976;35051231;35154160", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8NFI4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWV6-1", "uniprot_id": [ { "id": "FCAMR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWV6", "type": "external" } ], "mass": 57144.0, "length": 532, "protein_name": "High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor", "gene_name": "FCAMR", "organism": "Human", "refseq_name": "high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor isoform a", "refseq_ac": [ { "id": "NP_001116451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116451", "type": "external" } ], "gene_names_uniprotkb": "FCAMR; FKSG87", "gene_names_refseq": "CD351; FCA/MR; FCAMR; FKSG87; Fcalpha/muR", "protein_names_uniprotkb": "High affinity immunoglobulin alpha and immunoglobulin mu Fc receptor; Fc alpha/mu receptor", "protein_names_refseq": "Fc alpha/mu receptor; Fc fragment of IgA and IgM receptor; Fc receptor, IgA, IgM, high affinity; high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor isoform a; high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor; immunity related factor; receptor for Fc fragment of IgA and IgM", "tax_id": 9606, "disease": "", "pathway": " (hsa:83953); (R-HSA-202733)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10606205;10764623;11062505;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18379868;19279206;19338768;19393604;19945166;20059578;21193412;21659548;23945545;24043627;24715725;24764293;2538457;25845491;26138065;28355232;29557506;30459171;34932366;35051231;35580925;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic pollution. Publication Status: Online-Only, [RefSeq, PubMed]; A significantly worse survival was found in patients with IgA serum levels>2.85 g/l compared to patients with lower IgA serum levels., [RefSeq, PubMed]; ADAM10 and ADAM17 are involved in the shedding of FcalphaR, [RefSeq, PubMed]; Comprehensive survey of naturally occurring polymorphisms in rhesus macaques and in humans., [RefSeq, PubMed]; Functions as a receptor for the Fc fragment of IgA and IgM. Binds IgA and IgM with high affinity and mediates their endocytosis. May function in the immune response to microbes mediated by IgA and IgM., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Rs3125923 FCAMR gene represents a validated SNP to predict grade 3-4 Taxane-induced peripheral neuropathy . Genetically determined AA race represents the most significant predictor of TIPN., [RefSeq, PubMed]; The cytoplasmic portion of human Fcalpha/microR is required in the internalization., [RefSeq, PubMed]; These results indicate for the first time that Fcalpha/muR protein is expressed by human intestinal tissues, [RefSeq, PubMed]; These results suggest that the cytoplasmic portion is required for the dimer formation and thus for efficient cell surface expression of Fcalpha/microR., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J1S2;Q32M82;Q8WWV5;Q96SA2", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q8WWV6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AP7-1", "uniprot_id": [ { "id": "ESAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AP7", "type": "external" } ], "mass": 41176.0, "length": 390, "protein_name": "Endothelial cell-selective adhesion molecule", "gene_name": "ESAM", "organism": "Human", "refseq_name": "endothelial cell-selective adhesion molecule precursor", "refseq_ac": [ { "id": "NP_620411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620411", "type": "external" } ], "gene_names_uniprotkb": "ESAM; PRO246", "gene_names_refseq": "ESAM; NEDIHSS; W117m", "protein_names_uniprotkb": "Endothelial cell-selective adhesion molecule", "protein_names_refseq": "2310008D05Rik; HUEL (C4orf1)-interacting protein; LP4791 protein; endothelial cell-selective adhesion molecule precursor; endothelial cell-selective adhesion molecule", "tax_id": 9606, "disease": "neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (MONDO:MONDO:0957267)", "pathway": " (hsa:90952); (R-HSA-202733)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10606205;10764623;11207550;11237011;11256994;11279107;11564780;11779189;11812992;12070135;12208882;12469115;12782713;12975309;14529530;14615387;15000751;15340161;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19159218;19279206;21193412;21659548;23090970;23481700;23945545;24043627;24190977;24764293;2538457;25502872;26375851;26774386;27846572;27862975;27920218;28228285;28832583;29242379;29391424;29393594;29557506;29769354;30429286;30626607;31154438;31844290;31848261;32157095;32350084;32983136;33968037;34087483;34433824;34932366;35051231;36996813;37074911;468991;7509040;7521878;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage., [RefSeq, PubMed]; Can mediate aggregation most likely through a homophilic molecular interaction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; ESAM is a novel human hematopoietic stem cell marker associated with a subset of human leukemias, [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 28, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DVN8;Q96T50", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0005923 bicellular tight junction;GO:0032991 protein-containing complex", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0098609 cell-cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0008104 intracellular protein localization;GO:0070830 bicellular tight junction assembly", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q96AP7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AQ9-1", "uniprot_id": [ { "id": "F131C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AQ9", "type": "external" } ], "mass": 30351.0, "length": 280, "protein_name": "Protein FAM131C", "gene_name": "FAM131C", "organism": "Human", "refseq_name": "protein FAM131C", "refseq_ac": [ { "id": "NP_872429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872429", "type": "external" } ], "gene_names_uniprotkb": "FAM131C; C1orf117", "gene_names_refseq": "C1orf117; FAM131C", "protein_names_uniprotkb": "Protein FAM131C", "protein_names_refseq": "protein FAM131C", "tax_id": 9606, "disease": "", "pathway": " (hsa:348487)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "29557506;32938616;33592498;33981976;34405274;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5T5Q5;Q8N3X3;Q8N9P9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96AQ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D05-1", "uniprot_id": [ { "id": "F241B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D05", "type": "external" } ], "mass": 13238.0, "length": 121, "protein_name": "Protein FAM241B", "gene_name": "FAM241B", "organism": "Human", "refseq_name": "protein FAM241B", "refseq_ac": [ { "id": "NP_660349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660349", "type": "external" } ], "gene_names_uniprotkb": "FAM241B; C10orf35", "gene_names_refseq": "C10orf35; FAM241B", "protein_names_uniprotkb": "Protein FAM241B", "protein_names_refseq": "protein FAM241B; uncharacterized protein C10orf35", "tax_id": 9606, "disease": "", "pathway": " (hsa:219738)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;16385451;18691976;23186163;28510447;31270356", "class_list": "", "function": "May play a role in lysosome homeostasis., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96D05-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GI7-1", "uniprot_id": [ { "id": "FA89A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GI7", "type": "external" } ], "mass": 19569.0, "length": 184, "protein_name": "Protein FAM89A", "gene_name": "FAM89A", "organism": "Human", "refseq_name": "protein FAM89A", "refseq_ac": [ { "id": "NP_940954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940954", "type": "external" } ], "gene_names_uniprotkb": "FAM89A; C1orf153", "gene_names_refseq": "C1orf153; FAM89A", "protein_names_uniprotkb": "Protein FAM89A", "protein_names_refseq": "protein FAM89A", "tax_id": 9606, "disease": "", "pathway": " (hsa:375061)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "31409879;32157095;32488085;33730571;33968037;35051231;35318648", "class_list": "", "function": "A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptome-wide association study reveals two genes that influence mismatch negativity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96GI7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LA5-1", "uniprot_id": [ { "id": "FCRL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LA5", "type": "external" } ], "mass": 55542.0, "length": 508, "protein_name": "Fc receptor-like protein 2", "gene_name": "FCRL2", "organism": "Human", "refseq_name": "Fc receptor-like protein 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001152960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152960", "type": "external" } ], "gene_names_uniprotkb": "FCRL2; FCRH2; IFGP4; IRTA4; PRO31998; SPAP1", "gene_names_refseq": "CD307b; FCRH2; FCRL2; IFGP4; IRTA4; SPAP1A; SPAP1B; SPAP1C; SPAP1", "protein_names_uniprotkb": "Fc receptor-like protein 2; Fc receptor homolog 2; FcR-like protein 2; FcRH2; FcRL2; IFGP family protein 4; Immunoglobulin receptor translocation-associated protein 4; SH2 domain-containing phosphatase anchor protein 1", "protein_names_refseq": "Fc receptor-like protein 2 isoform 2 precursor; IFGP family protein 4; SH2 domain containing phosphatase anchor protein 1; fc receptor homolog 2; fc receptor-like protein 2; immune receptor translocation-associated protein 4; immunoglobulin receptor translocation-associated protein 4; immunoglobulin superfamily Fc receptor, gp42", "tax_id": 9606, "disease": "", "pathway": " (hsa:79368)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11162587;11493702;11929751;12037601;12975309;15340161;16849395;23481700;24190977;29557506;29632711;31092813;32983136;33597097;33936100;34371177;35051231;35561310", "class_list": "", "function": "Expression profile of Fc receptor-like molecules in patients with IgA nephropathy., [RefSeq, PubMed]; May have an regulatory role in normal and neoplastic B cell development., [UniProtKB, PubMed]; This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009]., [RefSeq]; We have shown that FCRL2 is a powerful predictor of both TFT and OS in CLL and have validated the prognostic significance of FCRL2 in a new cohort of patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0N0M5;A1L307;A6NMS0;Q6NTA1;Q9BZI4;Q9BZI5;Q9BZI6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0035591 signaling adaptor activity;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96LA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQL6-1", "uniprot_id": [ { "id": "FERM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQL6", "type": "external" } ], "mass": 77437.0, "length": 677, "protein_name": "Fermitin family homolog 1", "gene_name": "FERMT1", "organism": "Human", "refseq_name": "fermitin family homolog 1", "refseq_ac": [ { "id": "NP_060141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060141", "type": "external" } ], "gene_names_uniprotkb": "FERMT1; C20orf42; KIND1; URP1", "gene_names_refseq": "C20orf42; DTGCU2; FERMT1; KIND1; UNC112A; URP1", "protein_names_uniprotkb": "Fermitin family homolog 1; Kindlerin; Kindlin syndrome protein; Kindlin-1; Unc-112-related protein 1", "protein_names_refseq": "UNC112 related protein 1; fermitin family homolog 1; fermitin family member 1; kindlerin; kindlin 1; kindlin syndrome protein; unc-112-related protein 1", "tax_id": 9606, "disease": "Kindler syndrome (Disease Ontology:DOID:0060472); telangiectasis (Disease Ontology:DOID:1272); vesiculobullous skin disease (Disease Ontology:DOID:2731)", "pathway": " (hsa:55612)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;12668616;12697302;12789646;14634021;14962093;17012746;18669648;19804783;20068231;21936020;23186163;25576301;26154972;27397612;28228285;28510447;28904123;29242379;29331515;29769354;30192525;30524438;31154438;32387766;32502341;32938616;33141586;33592498;33968037;34087483;34932366;35051231;35452191;36241641;36981005;38200443;38976072", "class_list": "", "function": "FERMT1 Is a Prognostic Marker Involved in Immune Infiltration of Pancreatic Adenocarcinoma Correlating with m[6]A Modification and Necroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; FERMT1 promotes cell migration and invasion in non-small cell lung cancer via regulating PKP3-mediated activation of p38 MAPK signaling. Publication Status: Online-Only, [RefSeq, PubMed]; FERMT1 suppression induces anti-tumor effects and reduces stemness in glioma cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression., [UniProtKB, PubMed, PubMed, PubMed]; Kindlerin has a role in mediating cell processes that depend on integrins, [RefSeq, PubMed]; Kindlin-1 modulates the EGFR pathway and predicts sensitivity to EGFR inhibitors across cancer types., [RefSeq, PubMed]; Loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity, [RefSeq, PubMed]; This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DW10;Q8IX34;Q8IYH2;Q9NWM2;Q9NXQ3", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005925 focal adhesion;GO:0030054 cell junction", "go_biological_process": "GO:0051546 keratinocyte migration;GO:0051886 negative regulation of timing of anagen;GO:2000647 negative regulation of stem cell proliferation;GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9BQL6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRP7-1", "uniprot_id": [ { "id": "FDXA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRP7", "type": "external" } ], "mass": 70416.0, "length": 624, "protein_name": "Ferredoxin-fold anticodon-binding domain-containing protein 1", "gene_name": "FDXACB1", "organism": "Human", "refseq_name": "ferredoxin-fold anticodon-binding domain-containing protein 1", "refseq_ac": [ { "id": "NP_612387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612387", "type": "external" } ], "gene_names_uniprotkb": "FDXACB1", "gene_names_refseq": "FDXACB1; hCG_2033039", "protein_names_uniprotkb": "Ferredoxin-fold anticodon-binding domain-containing protein 1; FDX-ACDB domain-containing protein 1", "protein_names_refseq": "FDX-ACDB domain-containing protein 1; ferredoxin-fold anticodon-binding domain-containing protein 1; hypothetical protein BC006136", "tax_id": 9606, "disease": "", "pathway": " (hsa:91893)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;20230923;24366607;24715725;27846572;27920218;28218747;28514659;28855257;28904123;29393594;29632046;29789417;31530632;31844290;31848261;32265295;32357974;33298915;33912179;33968037;35051231", "class_list": "", "function": "This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "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": "A0PJW7;B4DUU2", "ec_number_list": [], "go_molecular_function": "GO:0070042 rRNA (uridine-N3-)-methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0070475 rRNA base methylation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9BRP7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSJ8-1", "uniprot_id": [ { "id": "ESYT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSJ8", "type": "external" } ], "mass": 122856.0, "length": 1104, "protein_name": "Extended synaptotagmin-1", "gene_name": "ESYT1", "organism": "Human", "refseq_name": "extended synaptotagmin-1 isoform 1", "refseq_ac": [ { "id": "NP_001171725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171725", "type": "external" } ], "gene_names_uniprotkb": "ESYT1; FAM62A; KIAA0747; MBC2", "gene_names_refseq": "ESYT1; FAM62A; MBC2", "protein_names_uniprotkb": "Extended synaptotagmin-1; E-Syt1; Membrane-bound C2 domain-containing protein", "protein_names_refseq": "extended synaptotagmin like protein 1; extended synaptotagmin protein 1; extended synaptotagmin-1 isoform 1; family with sequence similarity 62 (C2 domain containing), member A; membrane-bound C2 domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23344); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013408); (R-HSA-9013423); (R-HSA-9035034); (R-HSA-9845576)", "pathway_count": 8, "publication_count": 411, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10652265;10699171;10699464;10847683;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11689693;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11956649;11961559;11967128;12071859;12093360;12096337;12177196;12195014;12221096;12351724;12376551;12432077;12531887;12546821;12547822;12577064;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15107860;15133129;15147912;15169870;15302923;15329726;15339924;15342493;15485661;15507211;15542837;15579468;15592455;15601624;15611138;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16103222;16112081;16116428;16184169;16243035;16243036;16339170;16473593;16492808;16507994;16519628;1660188;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17060455;17064668;17077126;17105344;17145773;17158234;17196961;17214551;17244649;17269730;17360437;17583407;17599059;17687330;17698854;17702745;17765681;17804252;17916560;17924679;17976533;17980653;18006505;18045877;18056264;18083107;18191593;18218625;18249095;18317235;18347018;18396277;18426980;18578522;18653540;18662984;18669648;18697831;18707149;18838382;18991276;19255425;19269969;19494238;19534724;19581409;19605563;19608861;19651622;19664994;19673492;19713215;19934221;19940249;20058876;20068231;20233848;20400958;20460433;20679435;20810653;21119010;21148482;21151158;21378159;21542010;21565175;21613211;21621533;21730051;21865595;21872626;21989057;21993680;22004470;22096251;22250200;22298643;22407364;22475431;22608513;22645359;22665057;22734669;22970203;23087206;23096567;23186163;23209303;23255595;23288169;23290777;23301498;23434736;23481700;23572525;23707487;23718289;23757206;23791178;23863933;23870057;23940355;24086303;24102721;24183667;24259668;24275569;24335996;24352656;24366607;24623723;24659802;24715725;24859002;24933155;24960694;25024229;25211221;25428919;25505266;25576301;25645385;25668492;25704760;25721503;25746724;25795300;25810538;25862245;25880248;26016997;26129894;26154972;26202220;26375851;26529257;26628301;26758079;26887924;26992070;27117132;27145964;27216196;27278019;27452731;27481945;27555588;27566826;27600516;27655845;27713499;27806292;27846572;27852748;27862975;27920218;28114311;28196833;28218747;28228285;28356423;28486133;28832583;28834231;28855257;28904123;28947137;29089502;29242379;29314611;29351928;29358323;29382922;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29776664;29786170;30315122;30410026;30429286;30524438;30833945;30850711;30853411;31154438;31222486;31389670;31530632;31568712;31611695;31844290;31848261;31871319;31998317;32157095;32161166;32203420;32265295;32339554;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34211107;34357683;34405274;34499882;34509645;34561969;34725712;34932366;35051231;35083852;35132862;35154160;35251023;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36821088;37938771;38665916;38758649;40307207;40596516;40914422;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9843499;9988689", "class_list": "", "function": "Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels (PubMed:23791178, PubMed:24183667). Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane (PubMed:24183667). Acts as an inhibitor of ADGRD1 G protein-coupled receptor activity in absence of cytosolic calcium (PubMed:38758649). Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped ER-PM Contact Sites and Accelerate Ca(2+) Store Replenishment. Publication Status: Online-Only, [RefSeq, PubMed]; PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 18, "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": "A0FGR7;A8K2S2;O94848;Q6PJN4;Q9H6J1;Q9H6W2;Q9Y416", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0008429 phosphatidylethanolamine binding;GO:0031210 phosphatidylcholine binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0120009 intermembrane lipid transfer;GO:0061817 endoplasmic reticulum-plasma membrane tethering;GO:0006869 lipid transport", "synthesized_glycan_count": 0, "hit_score": 41.7, "record_id": "Q9BSJ8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H479-1", "uniprot_id": [ { "id": "FN3K_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H479", "type": "external" } ], "mass": 35171.0, "length": 309, "protein_name": "Fructosamine-3-kinase", "gene_name": "FN3K", "organism": "Human", "refseq_name": "fructosamine-3-kinase", "refseq_ac": [ { "id": "NP_071441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071441", "type": "external" } ], "gene_names_uniprotkb": "FN3K", "gene_names_refseq": "FN3K", "protein_names_uniprotkb": "Fructosamine-3-kinase; 2.7.1.171; 2.7.1.172; Protein-psicosamine 3-kinase FN3K; Protein-ribulosamine 3-kinase FN3K", "protein_names_refseq": "fructosamine-3-kinase; protein-psicosamine 3-kinase FN3K; protein-ribulosamine 3-kinase FN3K", "tax_id": 9606, "disease": "", "pathway": " (hsa:64122); (R-HSA-163841)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11016445;11522682;11975663;14633848;15102834;15137908;1554716;17924679;18672380;19158273;22195972;23481380;24971579;25059662;25576301;25645385;26154972;26992070;27600516;27846572;28832583;28834231;29242379;29393594;29557506;29786170;30379171;30429286;31398338;31844290;32157095;32161166;32387766;32488085;32636308;32938616;33208304;33537174;34185709;34932366;35051231;35318648;35580925;36010968;36284347;39173621;8051097;9501187", "class_list": "", "function": "A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation. [provided by RefSeq, Feb 2012]., [RefSeq]; A redox-active switch in fructosamine-3-kinases expands the regulatory repertoire of the protein kinase superfamily. Publication Status: Online-Only, [RefSeq, PubMed]; FN3K expression in COPD: a potential comorbidity factor for cardiovascular disease. Erratum:[BMJ Open Respir Res. 2021 Jan;8(1):e000714corr1. doi: 10.1136/bmjresp-2020-000714corr1. PMID: 33462091], [RefSeq, PubMed]; FN3K is a targetable modulator of NRF2 activity in cancer., [RefSeq, PubMed]; Fructosamine-3-kinase involved in protein deglycation by mediating phosphorylation of fructoselysine residues on glycated proteins, to generate fructoselysine-3 phosphate (PubMed:11016445, PubMed:11522682, PubMed:11975663). Fructoselysine-3 phosphate adducts are unstable and decompose under physiological conditions (PubMed:11522682, PubMed:11975663). Involved in intracellular deglycation in erythrocytes (PubMed:11975663). Involved in the response to oxidative stress by mediating deglycation of NFE2L2/NRF2, glycation impairing NFE2L2/NRF2 function (By similarity). Also able to phosphorylate psicosamines and ribulosamines (PubMed:14633848)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Involved in the removal of fructosamine residues from hemoglobin in erythrocytes., [RefSeq, PubMed]; Structural basis for FN3K-mediated protein deglycation., [RefSeq, PubMed]; The aim of this work was to identify the fructosamine residues on hemoglobin that are removed as a result of the action of FN3K in intact erythrocytes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.1.172", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.172", "type": "external" }, { "id": "2.7.1.171", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.171", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016301 kinase activity;GO:0102194 protein-fructosamine 3-kinase activity;GO:0102193 protein-ribulosamine 3-kinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0030389 fructosamine metabolic process;GO:0030393 fructoselysine metabolic process;GO:0030855 epithelial cell differentiation;GO:0043687 post-translational protein modification;GO:0036525 protein deglycation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9H479-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUU6-1", "uniprot_id": [ { "id": "OTULL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUU6", "type": "external" } ], "mass": 42196.0, "length": 356, "protein_name": "Inactive ubiquitin thioesterase OTULINL", "gene_name": "OTULINL", "organism": "Human", "refseq_name": "inactive ubiquitin thioesterase OTULINL", "refseq_ac": [ { "id": "NP_061891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061891", "type": "external" } ], "gene_names_uniprotkb": "OTULINL; FAM105A", "gene_names_refseq": "FAM105A; NET20; OTULINL", "protein_names_uniprotkb": "Inactive ubiquitin thioesterase OTULINL", "protein_names_refseq": "family with sequence similarity 105 member A; inactive ubiquitin thioesterase FAM105A; inactive ubiquitin thioesterase OTULINL; protein FAM105A", "tax_id": 9606, "disease": "", "pathway": " (hsa:54491)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "23708998;24715725;27862975;28832583;29242379;29314611;29493099;29557506;29786170;30379171;30429286;30833945;31056421;31154438;31844290;31848261;32157095;32161166;32983136;33912179;33968037;33981976;34087483;34171305;34357683;35051231;35580925;36284347;37311518;37938771", "class_list": "", "function": "Disrupting of family with sequence similarity 105, member A (Fam105a) deteriorates pancreatic beta-cell physiology and insulin secretion in INS-1 cells., [RefSeq, PubMed]; Lacks deubiquitinase activity., [UniProtKB, PubMed]; The crystal structure of FAM105A/OTULINL indicated that the OTU domain possesses structural deficiencies in both active site and substrate-binding infrastructure predicted to impair normal deubiquitinase (DUB) function., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "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": "Q53H50;Q9H037", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005635 nuclear envelope;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9NUU6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZY2-1", "uniprot_id": [ { "id": "FA30A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZY2", "type": "external" } ], "mass": 14626.0, "length": 134, "protein_name": "Putative uncharacterized protein FAM30A", "gene_name": "FAM30A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM30A; C14orf110; HSPC053; KIAA0125", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FAM30A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "19707560;29557506", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9J8W9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9NZY2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK97-1", "uniprot_id": [ { "id": "FBX9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK97", "type": "external" } ], "mass": 52329.0, "length": 447, "protein_name": "F-box only protein 9", "gene_name": "FBXO9", "organism": "Human", "refseq_name": "F-box only protein 9 isoform 1", "refseq_ac": [ { "id": "NP_036479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036479", "type": "external" } ], "gene_names_uniprotkb": "FBXO9; FBX9; VCIA1", "gene_names_refseq": "FBX9; FBXO9; NY-REN-57; VCIA1; dJ341E18.2", "protein_names_uniprotkb": "F-box only protein 9; Cross-immune reaction antigen 1; Renal carcinoma antigen NY-REN-57", "protein_names_refseq": "F-box only protein 9 isoform 1; F-box only protein 9; F-box protein Fbx9; cross-immune reaction antigen 1; renal carcinoma antigen NY-REN-57", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:26268); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 171, "publication_id_list": "10508479;10531035;10531037;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20068231;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23263282;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25880248;26344709;26375851;26460955;26632597;26811146;26906416;26992070;27030794;27222660;27565346;27600516;28063628;28115426;28228285;28832583;28904123;29153394;29242379;29493099;29557506;29632046;29632711;29786170;30315122;30429286;30610225;31154438;31844290;31848261;32005965;32157095;32284348;32357974;32387766;32502341;32938616;32983136;33444648;33912179;33981976;34480022;34932366;35025031;35051231;35561310;35580925;36010968;36241641;36284347;37217939;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "F-box only protein 9 and its role in cancer. Review article, [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability (PubMed:23263282, PubMed:34480022). Ubiquitinates mTORC1-bound TTI1 and TELO2 when they are phosphorylated by CK2 following growth factor deprivation, leading to their degradation. In contrast, does not mediate ubiquitination of TTI1 and TELO2 when they are part of the mTORC2 complex. As a consequence, mTORC1 is inactivated to restrain cell growth and protein translation, while mTORC2 is the activated due to the relief of feedback inhibition by mTORC1 (PubMed:23263282). Plays a role in maintaining epithelial cell survival by regulating the turn-over of chromatin modulator PRMT4 through ubiquitination and degradation by the proteasomal pathway (PubMed:34480022). Regulates also PPARgamma stability by facilitating PPARgamma/PPARG ubiquitination and thereby plays a role in adipocyte differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, 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. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5' terminus. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFW3;B3KMM6;O75986;Q59EH8;Q6PKH7;Q9NT57;Q9Y593", "ec_number_list": [], "go_molecular_function": "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:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0070936 protein K48-linked ubiquitination;GO:0032006 regulation of TOR signaling;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "Q9UK97-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKA1-1", "uniprot_id": [ { "id": "FBXL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKA1", "type": "external" } ], "mass": 78555.0, "length": 691, "protein_name": "F-box/LRR-repeat protein 5", "gene_name": "FBXL5", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 5 isoform 3", "refseq_ac": [ { "id": "NP_001180463", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180463", "type": "external" } ], "gene_names_uniprotkb": "FBXL5; FBL4; FBL5; FLR1", "gene_names_refseq": "CC2D2A-AS1; FBL4; FBL5; FBXL5; FLR1", "protein_names_uniprotkb": "F-box/LRR-repeat protein 5; F-box and leucine-rich repeat protein 5; F-box protein FBL4/FBL5; p45SKP2-like protein", "protein_names_refseq": "CC2D2A antisense RNA 1; F-box protein FBL4/FBL5; F-box/LRR-repeat protein 5 isoform 3; F-box/LRR-repeat protein 5; p45SKP2-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26234); (R-HSA-390471); (R-HSA-8951664); (R-HSA-917937); (R-HSA-983168)", "pathway_count": 5, "publication_count": 243, "publication_id_list": "10531035;10531037;10535940;10597293;10811609;10878807;10945468;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11323407;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12453412;12502735;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;12958161;14576842;14690597;14734113;14757770;15001581;15044468;15201052;15224091;15224092;15282312;15361859;15367669;15531878;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16143108;16171779;16274220;16377569;16401342;16407072;16510471;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17074750;17081101;17132228;17183367;17220875;17332328;17497243;17532294;17785452;18093314;18194661;18206966;18452278;18662542;18775313;18775504;18776931;18805092;18826954;18851830;18926707;18991276;19011634;19028597;19250909;19321346;19352404;19452197;1946430;19489725;19617556;19748355;19762596;19762597;19851334;19874575;19940261;20550936;21098288;21447816;21463634;2154449;21778237;21863050;21940857;21995946;22253436;22306028;22424782;22466964;22492618;22537386;22544926;2261476;22645359;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23615448;23747015;23912815;23986495;24076655;24157836;24366543;24636985;24715725;24756126;24778179;24793695;24793696;25249620;25314029;25342745;25349211;25355947;25467444;25531226;25576301;25645385;25892735;26024233;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27862975;28115426;28228285;28832583;28834231;28904123;29153394;29242379;29393594;29493099;29557506;29632711;29769354;29786170;30315122;30524438;30610225;30779550;30833945;31092671;31154438;31222486;31844290;31848261;31937595;32005965;32126207;32157095;32161166;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33537174;33592498;33633747;33691108;33735560;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36241641;36284347;37093682;37743009;37938771;7983023;8041788;8695634;9380723;9668046;9790970;9819444;9887101;9891082", "class_list": "", "function": "Component of some SCF (SKP1-cullin-F-box) protein ligase complex that plays a central role in iron homeostasis by promoting the ubiquitination and subsequent degradation of IREB2/IRP2 (PubMed:19762596, PubMed:19762597). The C-terminal domain of FBXL5 contains a redox-sensitive [2Fe-2S] cluster that, upon oxidation, promotes binding to IRP2 to effect its oxygen-dependent degradation (PubMed:32126207). Under iron deficiency conditions, the N-terminal hemerythrin-like (Hr) region, which contains a diiron metal center, cannot bind iron and undergoes conformational changes that destabilize the FBXL5 protein and cause its ubiquitination and degradation (PubMed:19762596, PubMed:19762597). When intracellular iron levels start rising, the Hr region is stabilized (PubMed:19762596, PubMed:19762597). Additional increases in iron levels facilitate the assembly and incorporation of a redox active [2Fe-2S] cluster in the C-terminal domain (PubMed:32126207). Only when oxygen level is high enough to maintain the cluster in its oxidized state can FBXL5 recruit IRP2 as a substrate for polyubiquitination and degradation (PubMed:32126207). Promotes ubiquitination and subsequent degradation of the dynactin complex component DCTN1 (PubMed:17532294). Within the nucleus, promotes the ubiquitination of SNAI1; preventing its interaction with DNA and promoting its degradation (PubMed:24157836). Negatively regulates DNA damage response by mediating the ubiquitin-proteasome degradation of the DNA repair protein NABP2 (PubMed:25249620)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; FBXL5 promotes lipid accumulation in alcoholic fatty liver disease by promoting the ubiquitination and degradation of TFEB., [RefSeq, PubMed]; Ferroportin and FBXL5 as Prognostic Markers in Advanced Stage Clear Cell Renal Cell Carcinoma., [RefSeq, PubMed]; Loss of F-Box and Leucine Rich Repeat Protein 5 (FBXL5) Expression Is Associated With Poor Survival in Patients With Hepatocellular Carcinoma After Curative Resection: A Two-institute Study., [RefSeq, PubMed]; Our findings provide a potential mechanism by which p150(Glued) protein function is regulated by SCFs., [RefSeq, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [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": 2, "reported_mutagensis": 7, "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": "A8MSK4;B4DIB5;Q4W5A8;Q8NHP3;Q9NXN2;Q9P0I0;Q9P0X5;Q9UJT7;Q9UKC8", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0019005 SCF ubiquitin ligase complex;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0016567 protein ubiquitination;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 24.4, "record_id": "Q9UKA1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKA2-1", "uniprot_id": [ { "id": "FBXL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKA2", "type": "external" } ], "mass": 70097.0, "length": 621, "protein_name": "F-box/LRR-repeat protein 4", "gene_name": "FBXL4", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 4", "refseq_ac": [ { "id": "NP_001265645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265645", "type": "external" } ], "gene_names_uniprotkb": "FBXL4; FBL4; FBL5", "gene_names_refseq": "FBL4; FBL5; FBXL4; MTDPS13", "protein_names_uniprotkb": "F-box/LRR-repeat protein 4; F-box and leucine-rich repeat protein 4; F-box protein FBL4/FBL5", "protein_names_refseq": "F-box/LRR-repeat protein 4", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 13 (Disease Ontology:DOID:0080131)", "pathway": " (hsa:26235); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 180, "publication_id_list": "10.1101/2023.09.13.557529;10531035;10531037;10535940;10597293;10811609;10878807;10945468;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19615748;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;23993193;23993194;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25880248;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27182039;27222660;27565346;27600516;27846572;28115426;28228285;28832583;28834231;28904123;29153394;29242379;29493099;29557506;30315122;30379171;30429286;30610225;30833945;31154438;31844290;31848261;32005965;32157095;32161166;32284348;32357974;32488085;32502341;32938616;33091337;33298915;33444648;33717175;33912179;34171305;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36896912;37161784;37876279;37938771;38423516;38992176;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Excessive BNIP3- and BNIP3L-dependent mitophagy underlies the pathogenesis of FBXL4-mutated mitochondrial DNA depletion syndrome., [RefSeq, PubMed]; FBXL4 suppresses mitophagy by restricting the accumulation of NIX and BNIP3 mitophagy receptors., [RefSeq, PubMed]; FBXL4: safeguarding against mitochondrial depletion through suppression of mitophagy., [RefSeq, PubMed]; PPTC7 antagonizes mitophagy by promoting BNIP3 and NIX degradation via SCF[FBXL4]., [RefSeq, PubMed]; Substrate-recognition component of the mitochondria-localized SCF-FBXL4 ubiquitin E3 ligase complex that plays a role in the restriction of mitophagy by controlling the degradation of BNIP3 and NIX mitophagy receptors (PubMed:36896912, PubMed:38992176). Rescues also mitochondrial injury through reverting hyperactivation of DRP1-mediated mitochondrial fission (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. 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": 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": 25, "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": "B2R7Q5;E1P530;O95919;Q5BJH0;Q9UJU0", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:1901525 negative regulation of mitophagy;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0000422 autophagy of mitochondrion;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;GO:1901524 regulation of mitophagy", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "Q9UKA2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2C4-1", "uniprot_id": [ { "id": "EXOG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2C4", "type": "external" } ], "mass": 41085.0, "length": 368, "protein_name": "Nuclease EXOG, mitochondrial", "gene_name": "EXOG", "organism": "Human", "refseq_name": "nuclease EXOG, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001138936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138936", "type": "external" } ], "gene_names_uniprotkb": "EXOG; ENDOGL1; ENDOGL2; ENGL", "gene_names_refseq": "ENDOGL1; ENDOGL2; ENGL-a; ENGL-b; ENGLA; ENGLB; ENGL; EXOG", "protein_names_uniprotkb": "Nuclease EXOG, mitochondrial; 3.1.30.-; Endo G-like 1; Endonuclease G-like 1", "protein_names_refseq": "endo G-like 1; endo/exonuclease (5'-3'), endonuclease G-like; endonuclease G-like 1; endonuclease G-like 2; nuclease EXOG, mitochondrial isoform 2 precursor; nuclease EXOG, mitochondrial", "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)", "pathway": " (hsa:9941); (R-HSA-9913635)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10231028;10497183;10608893;10677218;11237011;15167897;17415550;18187503;18685103;19837034;20445207;20877624;21953457;22383523;23481700;24715725;25576301;25635099;26154972;26253742;27220468;27226550;27920218;28228285;29290614;29769354;30102370;30247721;30256971;30605451;30949702;31844290;32357974;32387766;33141586;33298915;33847964;33912179;33968037;34211107;34357683;34509645;34561969;35051231;35580925;35819194;35947649;36516439;36528058;36744436;37013609;37592734", "class_list": "", "function": "ENDOGL1 is a candidate disease-susceptibility gene for type 2 diabetes in a Japanese population GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5'-3' exonuclease activity., [UniProtKB, PubMed]; ExoG has a role as a unique 5'-exonuclease to mediate the flap-independent RNA primer removal process during mtDNA replication to maintain mitochondrial genome integrity, [RefSeq, PubMed]; Human EXOG Possesses Strong AP Hydrolysis Activity: Implication on Mitochondrial DNA Base Excision Repair., [RefSeq, PubMed]; Human endonuclease G-like-1 is a dimeric mitochondrial enzyme that displays 5'-3' exonuclease activity and further differs from EndoG in substrate specificity, [RefSeq, PubMed]; In vitro reconstitution reveals a key role of human mitochondrial EXOG in RNA primer processing., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K242;B4DVG2;Q3SXM9;Q9Y2C8", "ec_number_list": [ { "id": "3.1.30.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.30.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003676 nucleic acid binding;GO:0004519 endonuclease activity;GO:0004521 RNA endonuclease activity;GO:0000014 single-stranded DNA endodeoxyribonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006309 apoptotic DNA fragmentation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9Y2C4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y603-1", "uniprot_id": [ { "id": "ETV7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y603", "type": "external" } ], "mass": 38998.0, "length": 341, "protein_name": "Transcription factor ETV7", "gene_name": "ETV7", "organism": "Human", "refseq_name": "transcription factor ETV7 isoform 2", "refseq_ac": [ { "id": "NP_001193964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193964", "type": "external" } ], "gene_names_uniprotkb": "ETV7; TEL2; TELB; TREF", "gene_names_refseq": "ETV7; TEL-2; TEL2; TELB", "protein_names_uniprotkb": "Transcription factor ETV7; ETS translocation variant 7; ETS-related protein Tel2; Tel-related Ets factor; Transcription factor Tel-2", "protein_names_refseq": "ETS-related protein Tel2; Ets transcription factor TEL-2b; ets variant gene 7 (TEL2 oncogene); tel-related Ets factor; transcription factor ETV7 isoform 2; transcription factor ETV7", "tax_id": 9606, "disease": "", "pathway": " (hsa:51513)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10828014;11032031;11108721;15743832;22424782;25576301;26154972;27846572;30315122;30410026;31921104;32502341;32938616;33141586;34315857;34926692;38200280;38282047;39337528", "class_list": "", "function": "Assembly of mTORC3 Involves Binding of ETV7 to Two Separate Sequences in the mTOR Kinase Domain. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive Analysis Identified ETV7 as a Potential Prognostic Biomarker in Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ETV7 promotes colorectal cancer progression through upregulation of IFIT3. Publication Status: Online-Only, [RefSeq, PubMed]; ETV7 regulates breast cancer stem-like cell features by repressing IFN-response genes. Publication Status: Online-Only, [RefSeq, PubMed]; Exosomal miR-361-3p promotes the viability of breast cancer cells by targeting ETV7 and BATF2 to upregulate the PAI-1/ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Human TEL2 augments the proliferation and survival of normal mouse B cells and dramatically accelerates lymphoma development in Emu-Myc transgenic mice., [RefSeq, PubMed]; The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]., [RefSeq]; Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B3KVC2;B4DVB6;B4E1G4;Q5R3L3;Q5R3L4;Q9NZ65;Q9NZ66;Q9NZ68;Q9NZR8;Q9UNJ7;Q9Y5K4;Q9Y604", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO: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:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0009887 animal organ morphogenesis;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9Y603-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y680-2", "uniprot_id": [ { "id": "FKBP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y680", "type": "external" } ], "mass": 25794.0, "length": 222, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP7", "gene_name": "FKBP7", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP7 isoform b precursor", "refseq_ac": [ { "id": "NP_001128684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128684", "type": "external" } ], "gene_names_uniprotkb": "FKBP7; FKBP23; PRO1304", "gene_names_refseq": "FKBP23; FKBP7; PPIase", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP7; 23 kDa FK506-binding protein; 23 kDa FKBP; 5.2.1.8; FK506-binding protein 7; FKBP-23; FKBP-7; PPIase FKBP7; Rotamase", "protein_names_refseq": "23 kDa FK506-binding protein; 23 kDa FKBP; FK506 binding protein 7; FK506-binding protein 23; FKBP-23; FKBP-7; PPIase FKBP7; peptidyl-prolyl cis-trans isomerase FKBP7 isoform b precursor; peptidyl-prolyl cis-trans isomerase FKBP7; rotamase", "tax_id": 9606, "disease": "", "pathway": " (hsa:51661)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;10931946;12975309;23899896;24190977;27920218;28385890;31217245;31611695;31844290;32350084;32897882;33912179;35251023;35444168;36010968;36215666;37074911;38665916", "class_list": "", "function": "Hippocampal volume, FKBP5 genetic risk alleles, and childhood trauma interact to increase vulnerability to chronic multisite musculoskeletal pain. Publication Status: Online-Only, [RefSeq, PubMed]; Observed changes in activity of six rER-resident PPIases, cyclophilin B (encoded by the PPIB gene), FKBP13 (FKBP2), FKBP19 (FKBP11), FKBP22 (FKBP14), FKBP23 (FKBP7), and FKBP65 (FKBP10), due to posttranslational modifications of proline residues in the substrate., [RefSeq, PubMed]; PPIases accelerate the folding of proteins during protein synthesis., [UniProtKB]; RUNX1 and FKBP7, involved in erythropoesis and muscle protein synthesis, respectively, are related to change in cardiorespiratory fitness in response to exercise., [RefSeq, PubMed]; The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4ZG70;Q6V3B2;Q86U65;Q96DA4;Q9Y6B0", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005528 FK506 binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9Y680-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JV73-1", "uniprot_id": [ { "id": "FRPD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JV73", "type": "external" } ], "mass": 195652.0, "length": 1777, "protein_name": "FERM and PDZ domain-containing protein 3", "gene_name": "FRMPD3", "organism": "Human", "refseq_name": "FERM and PDZ domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001375388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001375388", "type": "external" } ], "gene_names_uniprotkb": "FRMPD3; KIAA1817", "gene_names_refseq": "FRMPD3", "protein_names_uniprotkb": "FERM and PDZ domain-containing protein 3", "protein_names_refseq": "FERM and PDZ domain-containing protein 3 isoform 1; FERM and PDZ domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84443); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11237011;23650620;31530632;38253038;8692836", "class_list": "", "function": "This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "A0A804HKI5;Q96JK8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070821 tertiary granule membrane;GO:0030667 secretory granule membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q5JV73-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MTJ6-1", "uniprot_id": [ { "id": "FOXI3_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MTJ6", "type": "external" } ], "mass": 43326.0, "length": 420, "protein_name": "Forkhead box protein I3", "gene_name": "FOXI3", "organism": "Human", "refseq_name": "forkhead box protein I3", "refseq_ac": [ { "id": "NP_001129121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129121", "type": "external" } ], "gene_names_uniprotkb": "FOXI3", "gene_names_refseq": "CFM2; FOXI3", "protein_names_uniprotkb": "Forkhead box protein I3", "protein_names_refseq": "forkhead box protein I3", "tax_id": 9606, "disease": "Goldenhar syndrome (Disease Ontology:DOID:2907); craniofacial microsomia 2 (MONDO:MONDO:0958194)", "pathway": " (hsa:344167)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "18787161;29242379;30315122;30467319;31844290;32387766;34087483;35051231;36260083;37041148", "class_list": "", "function": "Damaging variants in FOXI3 cause microtia and craniofacial microsomia., [RefSeq, PubMed]; Data show that Foxi3 contains at least two important functional domains, a nuclear localization sequence and a C-terminal transactivation domain, and that it directly binds its targets in a sequence specific. The transcriptional activity of Foxi3 seems to be regulated by phosphorylation, and that the activity of Foxi3 can be attenuated by its physical interaction with the protein phosphatase 2A (PP2A) complex. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor required for pharyngeal arch development, which is involved in hair, ear, jaw and dental development (PubMed:37041148). May act as a pioneer transcription factor during pharyngeal arch development (By similarity). Required for epithelial cell differentiation within the epidermis (By similarity). Acts at multiple stages of otic placode induction: necessary for preplacodal ectoderm to execute an inner ear program (By similarity). Required for hair follicle stem cell specification (By similarity). Acts downstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5RI09", "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:0060017 parathyroid gland development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0048538 thymus development", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A8MTJ6-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B3EWG3-1", "uniprot_id": [ { "id": "FM25A_HUMAN", "url": "https://www.uniprot.org/uniprot/B3EWG3", "type": "external" } ], "mass": 9320.0, "length": 89, "protein_name": "Protein FAM25A", "gene_name": "FAM25A", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FAM25A", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein FAM25A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:100133093); (hsa:643161); (hsa:644054)", "pathway_count": 3, "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": "B2RV02;Q5VTM1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "B3EWG3-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B3EWG6-1", "uniprot_id": [ { "id": "FM25G_HUMAN", "url": "https://www.uniprot.org/uniprot/B3EWG6", "type": "external" } ], "mass": 9320.0, "length": 89, "protein_name": "Protein FAM25G", "gene_name": "FAM25G", "organism": "Human", "refseq_name": "protein FAM25G", "refseq_ac": [ { "id": "NP_001131021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131021", "type": "external" } ], "gene_names_uniprotkb": "FAM25G", "gene_names_refseq": "FAM25G", "protein_names_uniprotkb": "Protein FAM25G", "protein_names_refseq": "protein FAM25G", "tax_id": 9606, "disease": "", "pathway": " (hsa:100133093); (hsa:643161); (hsa:644054)", "pathway_count": 3, "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": "B2RV02;Q5VTM1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "B3EWG6-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63211-1", "uniprot_id": [ { "id": "GBG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P63211", "type": "external" } ], "mass": 8496.0, "length": 74, "protein_name": "Guanine nucleotide-binding protein G(T) subunit gamma-T1", "gene_name": "GNGT1", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor", "refseq_ac": [ { "id": "NP_001316355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316355", "type": "external" } ], "gene_names_uniprotkb": "GNGT1", "gene_names_refseq": "GNG1; GNGT1; HG3G1", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(T) subunit gamma-T1; Transducin gamma chain", "protein_names_refseq": "guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1; guanine nucleotide-binding protein G(T) subunit gamma-T1 precursor; guanine nucleotide-binding protein G(T) subunit gamma-T1; heterotrimeric guanine nucleotide-binding protein 3G1; transducin gamma chain", "tax_id": 9606, "disease": "", "pathway": " (hsa:2792); (R-HSA-1296041); (R-HSA-202040); (R-HSA-2485179); (R-HSA-2514859); (R-HSA-381676); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 31, "publication_count": 538, "publication_id_list": "10037746;10051575;10191087;10215864;10318832;10319328;10322410;10376603;10380924;10391246;10391247;10395542;10427092;10449730;10488343;10496952;10564809;10567430;10588714;10634944;10639123;10649434;10676965;10698200;10714768;10727532;10749889;10759852;10764742;10777564;10806474;10858654;10861009;10948191;10954748;11007482;11015615;11029009;11029403;11030334;11034202;11043579;11044445;11060443;11071853;11076974;11185956;11196645;11237011;11283606;11292825;11294240;11313909;11313914;11369763;11563835;11601986;11687658;11689445;11698416;11713293;11742120;11753430;11754336;11773440;11773442;11773443;11786497;11825873;11853546;11946536;11968001;11981029;12015605;12034449;12036349;12036966;12048194;12058044;12086864;12101119;12106601;12119397;12120503;12123608;12167717;12176338;12180353;12180908;12194985;12388769;12401793;12410638;12421825;12431978;12432397;12433842;12446735;12467591;12467592;12471263;12475787;12482967;12496249;12499365;12507995;12511868;12515866;12556497;12560222;12588983;12682286;12724311;12729560;12801959;12808053;12825937;12860470;12881510;12887923;12938160;12975316;1325798;1333056;1347957;13549488;1356371;13680124;1373524;1378832;1379636;1387789;1436039;14514350;14514735;14573771;14592814;14671004;14675202;14701836;14702087;14704854;14742685;14764897;14977528;14988243;15033483;15044318;15090535;1510932;1517224;15231873;15245432;15304325;15314172;1534149;15464082;15467163;15471943;15494017;15496458;15539556;15545263;15569269;15569929;15611108;15657067;15699075;15703994;15705661;15705806;15718470;15749160;15765929;15769620;15889144;15946941;15951850;15955806;15956360;15980156;15995848;16102047;16120822;1614872;16182515;16212421;16212495;16239258;16268778;16274222;16274718;16313925;16339447;16352729;16371464;16373322;16407073;16407156;16415903;16418336;1645720;16460020;16460277;16580177;16613879;16634148;16636149;16645038;16687412;16702223;16717095;1672265;16754659;16780920;16835357;16880514;16892066;16895762;16908407;16920709;16923326;16973695;17037979;17095603;17114291;17156409;17168849;17178220;17185339;1720239;1722240;17306374;17379646;1739432;17424910;17426020;17444618;17525128;17535799;17545310;17636946;17684012;17900700;17916740;17921256;18044684;18162464;18202100;18202181;18206197;1825698;18287102;18374420;18412318;18434541;18456304;18488142;1849000;18491316;18511455;1851174;18515384;18566127;18577758;18657504;18678926;18710921;18803695;18936096;19020623;1905813;19105585;19138696;19144687;19170255;19177143;19212140;19258039;19342380;19342448;19376773;19383790;1939224;19536106;19574955;19715408;19723632;19741198;19818506;19851316;19859570;19861722;19876791;19879889;19929708;19931550;1999465;20007474;20381629;20430952;20439495;20453851;20650261;20655490;20670195;20850105;20861220;20975703;21036126;21118996;21172430;2155175;2161380;2163110;21680538;21844907;21851428;21903638;22028449;22031296;22266855;22446104;22480736;22495674;22658984;22661716;22941947;23151663;23256519;23416699;23632248;23637185;23904219;24039841;2417744;2422346;24273487;24530924;2457685;2467600;24687066;2473195;2474350;2491850;24962572;2534964;2540796;25414122;2550422;2553411;2553705;2558719;25587652;25659125;25675501;2578616;25916507;26190834;26308095;26417854;26590425;26987903;27072905;27288742;27392633;2748346;27566546;27797339;2826231;2834384;2835761;2837463;2841328;28450397;28502923;28539435;28595943;2871555;29443750;29602314;29738483;2991279;30007591;3006923;3049610;30833991;3086311;3095147;3104109;31205027;3127824;31279028;31399091;3141418;3164688;31983287;32226383;32296767;32497535;32540603;32618402;32639031;32715661;33049737;34499618;3899557;3933561;4065330;4359491;4361997;4366891;4772407;6085243;6192430;6264430;6745415;6930647;7503232;7510718;7512962;7514139;7525588;7526388;7526403;7526779;7532011;7535000;7538665;7559455;7567982;7568118;7589426;7589461;7595566;7624799;7641683;7644482;7651538;7670478;7678419;7678445;7680413;7682292;7700244;7750475;7777544;7811244;7876172;7902709;7937899;7983048;8007951;8015379;8063828;8073283;8099279;8138058;8140421;8144028;8208289;8277227;8290554;8340388;8382952;8390245;8404634;8405712;8406495;8494894;8500562;8514797;8521505;8522976;8527267;8554519;8598224;8617235;8621513;8626439;8661128;8662784;8664309;8672451;8673138;8683474;8700127;8702633;8706659;8733591;8778232;8782602;8812493;8816443;8830891;8855281;8876252;8910365;8913594;8982657;8997178;9073455;9087410;9119368;9152406;9153422;9173876;9227644;9263355;9305846;9308960;9353336;9369468;9374639;9374640;9389482;9395517;9417641;9430683;9459445;9478004;9488697;9506952;9544801;9565625;9616126;9618465;9620797;9651336;9707174;9756892;9760042;9770463;9796816;9829975;9920805;9924018;9990065", "class_list": "", "function": "Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB]; Suggest Gbeta4gamma1 as a modulator of M3 muscarinic receptor signaling., [RefSeq, PubMed]; This gene encodes the gamma subunit of transducin, a guanine nucleotide-binding protein (G protein) that is found in rod outer segments. Transducin, also known as GMPase, mediates the activation of a cyclic GTP-specific (guanosine monophosphate) phosphodiesterase by rhodopsin. [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1H2;O43835;Q08447;Q16026;Q6LCP6", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0003924 GTPase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0097381 photoreceptor disc membrane;GO:0001917 photoreceptor inner segment;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 53.9, "record_id": "P63211-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "F2Z333-1", "uniprot_id": [ { "id": "FND10_HUMAN", "url": "https://www.uniprot.org/uniprot/F2Z333", "type": "external" } ], "mass": 24218.0, "length": 226, "protein_name": "Fibronectin type III domain-containing protein 10", "gene_name": "FNDC10", "organism": "Human", "refseq_name": "fibronectin type III domain-containing protein 10 precursor", "refseq_ac": [ { "id": "NP_001229588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229588", "type": "external" } ], "gene_names_uniprotkb": "FNDC10; C1orf233", "gene_names_refseq": "C1orf233; FNDC10", "protein_names_uniprotkb": "Fibronectin type III domain-containing protein 10", "protein_names_refseq": "fibronectin type III domain-containing protein 10 precursor; fibronectin type III domain-containing protein 10; fibronectin type-III domain-containing transmembrane protein C1orf233", "tax_id": 9606, "disease": "", "pathway": " (hsa:643988)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10.1101/2023.09.13.557529;29242379;29786170;32938616;35051231", "class_list": "", "function": "", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "F2Z333-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41250-1", "uniprot_id": [ { "id": "GARS_HUMAN", "url": "https://www.uniprot.org/uniprot/P41250", "type": "external" } ], "mass": 83166.0, "length": 739, "protein_name": "Glycine--tRNA ligase", "gene_name": "GARS1", "organism": "Human", "refseq_name": "glycine--tRNA ligase isoform 2", "refseq_ac": [ { "id": "NP_001303701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303701", "type": "external" } ], "gene_names_uniprotkb": "GARS1; GARS", "gene_names_refseq": "CMT2D; DSMAV; GARS1; GARS; GlyRS; HMN5A; HMN5; HMND5; SMAD1; SMAJI", "protein_names_uniprotkb": "Glycine--tRNA ligase; 2.7.7.-; 6.1.1.14; Ap4A synthetase; Diadenosine tetraphosphate synthetase; GlyRS; Glycyl-tRNA synthetase 1; Glycyl-tRNA synthetase", "protein_names_refseq": "AP-4-A synthetase; Charcot-Marie-Tooth neuropathy 2D; Charcot-Marie-Tooth neuropathy, neuronal type, D; ap4A synthetase; diadenosine tetraphosphate synthetase; glycine--tRNA ligase isoform 2; glycine--tRNA ligase", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2 (Disease Ontology:DOID:0050539); Charcot-Marie-Tooth disease type 2D (Disease Ontology:DOID:0110164); autosomal dominant distal hereditary motor neuronopathy 5 (Disease Ontology:DOID:0111203); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); spinal muscular atrophy (Disease Ontology:DOID:12377); spinal muscular atrophy, infantile, James type (MONDO:MONDO:0033621)", "pathway": " (hsa:2617); (R-HSA-379716); (R-HSA-379726)", "pathway_count": 3, "publication_count": 165, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;11347887;11714285;11829477;11858721;12690580;1373391;14654843;14660560;14671330;15274629;15779907;16055448;16300924;16408927;16429158;16906134;17035524;17101916;17384640;17529987;17544401;17545306;1761529;17663003;17847012;19608861;19710017;20068231;20169446;22223895;22424782;22869377;23186163;23279345;23301498;23481700;24604904;24627108;24715725;24898252;25168514;25418920;25576301;25645385;25892735;26154972;26244500;26327585;26503042;26768311;26789244;26797133;26929215;26992070;27261259;27397612;27600516;27846572;27920218;28218747;28228285;28467828;28510447;28514659;28594869;28675565;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30484775;30573663;30779550;31020640;31092671;31173493;31217245;31844290;31848261;32119511;32157095;32181591;32265295;32350084;32357974;32387766;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;35008409;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36215666;36241641;36581221;36901698;37217939;37827278;38665916;39152248;40914422;4130389;6022858;656444;7118399;7654687;7753621;7755634;7961834;7962006;8052601;8078941;8188258;8428657;8449960;9278442;9421509;9431993;9466989", "class_list": "", "function": "Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP) (PubMed:17544401, PubMed:24898252, PubMed:28675565). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis (PubMed:19710017)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Glycyl-tRNA Synthetase (GARS) Expression Is Associated with Prostate Cancer Progression and Its Inhibition Decreases Migration, and Invasion In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Glycyl-tRNA Synthetase Induces Psoriasis-Like Skin by Facilitating Skin Inflammation and Vascular Endothelial Cell Angiogenesis., [RefSeq, PubMed]; Multiple omics integrative analysis identifies GARS1 as a novel prognostic and immunological biomarker: from pan-cancer to bladder cancer. Erratum:[Sci Rep. 2024 Oct 24;14(1):25244. doi: 10.1038/s41598-024-76904-x. PMID: 39448730] Publication Status: Online-Only, [RefSeq, PubMed]; One of the mRNAs isoforms tightly controls expression and localization of human GARS., [RefSeq, PubMed]; This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A090N8G0;B3KQA2;B4DIA0;Q969Y1", "ec_number_list": [ { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.14", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046983 protein dimerization activity;GO:0004081 bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity;GO:0004820 glycine-tRNA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0030141 secretory granule", "go_biological_process": "GO:0015966 diadenosine tetraphosphate biosynthetic process;GO:0006418 tRNA aminoacylation for protein translation;GO:0070150 mitochondrial glycyl-tRNA aminoacylation;GO:0006426 glycyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "P41250-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43638-1", "uniprot_id": [ { "id": "FOXS1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43638", "type": "external" } ], "mass": 35434.0, "length": 330, "protein_name": "Forkhead box protein S1", "gene_name": "FOXS1", "organism": "Human", "refseq_name": "forkhead box protein S1", "refseq_ac": [ { "id": "NP_004109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004109", "type": "external" } ], "gene_names_uniprotkb": "FOXS1; FKHL18; FREAC10", "gene_names_refseq": "FKHL18; FOXS1; FREAC-10; FREAC10", "protein_names_uniprotkb": "Forkhead box protein S1; FREAC-10; Forkhead-like 18 protein; Forkhead-related transcription factor 10", "protein_names_refseq": "forkhead box protein S1; forkhead-like 18 protein; forkhead-related activator 10; forkhead-related transcription factor 10; forkhead-related transcription factor FREAC-10", "tax_id": 9606, "disease": "PCWH syndrome (Disease Ontology:DOID:0090111); Waardenburg syndrome type 4C (Disease Ontology:DOID:0110955); Waardenburg syndrome type 2E (Disease Ontology:DOID:0110956); Hirschsprung's disease (Disease Ontology:DOID:10487); Kallmann syndrome (Disease Ontology:DOID:3614); Waardenburg syndrome (Disease Ontology:DOID:9258)", "pathway": " (hsa:2307)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "29557506;30500980;33912179;35051231;35580925;36178559;36308082;37890593;37938771;38280429;38780613;9325056", "class_list": "", "function": "ERp44 Regulates the Proliferation, Migration, Invasion, and Apoptosis of Gastric Cancer Cells Via Activation of ER Stress., [RefSeq, PubMed]; FOXS1 acts as an oncogene and induces EMT through FAK/PI3K/AKT pathway by upregulating HILPDA in prostate cancer. Erratum:[FASEB J. 2026 Jan 31;40(2):e71477. doi: 10.1096/fj.202600191. PMID: 41562334], [RefSeq, PubMed]; FOXS1 is increased in liver fibrosis and regulates TGFbeta responsiveness and proliferation pathways in human hepatic stellate cells., [RefSeq, PubMed]; FOXS1 promotes prostate cancer progression through the Hedgehog/Gli1 pathway. Erratum:[Biochem Pharmacol. 2023 Dec;218:115926. doi: 10.1016/j.bcp.2023.115926. PMID: 37992588], [RefSeq, PubMed]; Forkhead Box S1 inhibits the progression of lung squamous cell carcinoma cells by mediating Wnt/beta-catenin pathway., [RefSeq, PubMed]; Study showed that FOXS1 expression is downregulated in gastric cancer tumors and cell lines promoting cell proliferation and metastasis through upregulation of wnt/beta-catenin pathway., [RefSeq, PubMed]; The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor that suppresses transcription from the FASLG, FOXO3 and FOXO4 promoters. May have a role in the organization of the testicular vasculature (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96D28", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;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_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:0001568 blood vessel development;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O43638-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60548-1", "uniprot_id": [ { "id": "FOXD2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60548", "type": "external" } ], "mass": 48748.0, "length": 495, "protein_name": "Forkhead box protein D2", "gene_name": "FOXD2", "organism": "Human", "refseq_name": "forkhead box protein D2", "refseq_ac": [ { "id": "NP_004465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004465", "type": "external" } ], "gene_names_uniprotkb": "FOXD2; FKHL17; FREAC9", "gene_names_refseq": "FKHL17; FOXD2; FREAC-9; FREAC9", "protein_names_uniprotkb": "Forkhead box protein D2; FREAC-9; Forkhead-related protein FKHL17; Forkhead-related transcription factor 9", "protein_names_refseq": "forkhead box protein D2; forkhead, drosophila, homolog-like 17; forkhead-like 17; forkhead-related activator 9; forkhead-related protein FKHL17; forkhead-related transcription factor 9", "tax_id": 9606, "disease": "congenital myasthenic syndrome 7 (Disease Ontology:DOID:0110659); congenital myasthenic syndrome (Disease Ontology:DOID:3635); neuromuscular junction disease (Disease Ontology:DOID:439)", "pathway": " (hsa:2306)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12621056;22306510;23186163;30315122;31154438;31844290;31848261;32387766;32945354;34043149;35051231;37158258;9403061", "class_list": "", "function": "FOXD2 is a physiological regulator which increases cAMP sensitivity and sets the threshold for cAMP-mediated negative modulation of T cell activation, [RefSeq, PubMed]; Forkhead box protein D2 suppresses colorectal cancer by reprogramming enhancer interactions., [RefSeq, PubMed]; Identified transcription factors FOXD2 and GABP that bind to specific elements in the promoter of the RhitH gene, [RefSeq, PubMed]; Long noncoding RNA FOXD2AS1 regulates the tumorigenesis and progression of breast cancer via the S100 calcium binding protein A1/Hippo signaling pathway., [RefSeq, PubMed]; Probable transcription factor involved in embryogenesis and somatogenesis., [UniProtKB]; The potential roles of lncRNAs DUXAP8, LINC00963, and FOXD2-AS1 in luminal breast cancer based on expression analysis and bioinformatic approaches., [RefSeq, PubMed]; This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SVZ3", "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: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:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "O60548-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60774-1", "uniprot_id": [ { "id": "FMO6_HUMAN", "url": "https://www.uniprot.org/uniprot/O60774", "type": "external" } ], "mass": 61291.0, "length": 539, "protein_name": "Putative dimethylaniline monooxygenase [N-oxide-forming] 6", "gene_name": "FMO6P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FMO6P; FMO6", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative dimethylaniline monooxygenase [N-oxide-forming] 6; Dimethylaniline oxidase 6; FMO 6; Flavin-containing monooxygenase 6", "protein_names_refseq": "", "tax_id": 9606, "disease": "chromosome 1q21.1 deletion syndrome (Disease Ontology:DOID:0060411)", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12130684;12527699", "class_list": "", "function": "Member of the flavin-containing monooxygenase (FMO) family of NADPH-dependent monooxygenases, which catalyze the oxygenation of nucleophilic heteroatom-containing compounds such as xenobiotics and drugs. In humans, FMO6 is unlikely to encode a functional monooxygenase due to defective transcript processing and the presence of truncating variants. No enzymatic activity has been demonstrated for the human protein., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0050661 NADP binding;GO:0004499 N,N-dimethylaniline monooxygenase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0042412 taurine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "O60774-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76087-1", "uniprot_id": [ { "id": "GAGE7_HUMAN", "url": "https://www.uniprot.org/uniprot/O76087", "type": "external" } ], "mass": 12978.0, "length": 117, "protein_name": "G antigen 7", "gene_name": "GAGE7", "organism": "Human", "refseq_name": "G antigen 12I", "refseq_ac": [ { "id": "NP_001468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001468", "type": "external" } ], "gene_names_uniprotkb": "GAGE7; GAGE12I; GAGE7B", "gene_names_refseq": "AL4; CT4.7; GAGE-7B; GAGE12I; GAGE7B", "protein_names_uniprotkb": "G antigen 7; AL4; CT4.7; Cancer/testis antigen 4.7; GAGE-12I; GAGE-7B; GAGE-7; GAGE-8", "protein_names_refseq": "G antigen 12G; G antigen 12I; G antigen 7B; cancer/testis antigen 4.7; g antigen 12F/G/I", "tax_id": 9606, "disease": "", "pathway": " (hsa:100008586); (hsa:2579); (hsa:26748); (hsa:645073); (hsa:729428)", "pathway_count": 5, "publication_count": 8, "publication_id_list": "10397259;18179644;18707149;23029259;30871606;34078123;36215666;9651357", "class_list": "", "function": "GAGE7B significantly promotes gastric cancer progression by upregulating the p38delta/pMAPKAPK2/pHSP27 pathway, but it is negatively regulated by miR-30c. Publication Status: Online-Only, [RefSeq, PubMed]; The metazoan transcriptional regulator, Germ cell-less (GCL), as an interaction partner of GAGE12I., [RefSeq, PubMed]; This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B7ZM13;Q4V324", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "O76087-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95302-1", "uniprot_id": [ { "id": "FKBP9_HUMAN", "url": "https://www.uniprot.org/uniprot/O95302", "type": "external" } ], "mass": 63084.0, "length": 570, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP9", "gene_name": "FKBP9", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP9 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001271270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271270", "type": "external" } ], "gene_names_uniprotkb": "FKBP9; FKBP60; FKBP63", "gene_names_refseq": "FKBP60; FKBP63; FKBP9; PPIase", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP9; 5.2.1.8; 63 kDa FK506-binding protein; 63 kDa FKBP; FK506-binding protein 9; FKBP-63; FKBP-9; PPIase FKBP9; Rotamase", "protein_names_refseq": "63 kDa FK506-binding protein; 63 kDa FKBP; FK506 binding protein 9, 63 kDa; FK506-binding protein 9; FKBP-63; FKBP-9; PPIase FKBP9; peptidyl-prolyl cis-trans isomerase FKBP9 isoform 2 precursor; peptidyl-prolyl cis-trans isomerase FKBP9; rotamase", "tax_id": 9606, "disease": "", "pathway": " (hsa:11328); (R-HSA-390471)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;10524204;11237011;12502735;12750860;12754519;18775504;19011634;21098288;21995946;23747015;24190977;24715725;24756126;25342745;25467444;25576301;25645385;26992070;27397612;27862975;28904123;29557506;29741879;30429286;30779550;30833945;31154438;31530632;31780055;31844290;31848261;32111229;32157095;32387766;32488085;32897882;32938616;33214551;33392160;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34725712;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37074911;37938771;38665916;9819444", "class_list": "", "function": "FKBP9 promotes the malignant behavior of glioblastoma cells and confers resistance to endoplasmic reticulum stress inducers. Publication Status: Online-Only, [RefSeq, PubMed]; Increasing of FKBP9 can predict poor prognosis in patients with prostate cancer., [RefSeq, PubMed]; PPIases accelerate the folding of proteins during protein synthesis., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 35, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KY35;B7Z1G9;B7Z6H3;Q2M2A1;Q3MIR7;Q6IN76;Q6P2N1;Q96EX5;Q96IJ9", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "O95302-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07954-1", "uniprot_id": [ { "id": "FUMH_HUMAN", "url": "https://www.uniprot.org/uniprot/P07954", "type": "external" } ], "mass": 54637.0, "length": 510, "protein_name": "Fumarate hydratase, mitochondrial", "gene_name": "FH", "organism": "Human", "refseq_name": "fumarate hydratase, mitochondrial", "refseq_ac": [ { "id": "NP_000134", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000134", "type": "external" } ], "gene_names_uniprotkb": "FH", "gene_names_refseq": "FH; FMRD; HLRCC; HsFH; LRCC; MCL; MCUL1", "protein_names_uniprotkb": "Fumarate hydratase, mitochondrial; 4.2.1.2; Fumarase; HsFH", "protein_names_refseq": "epididymis secretory sperm binding protein; fumarase; fumarate hydratase, mitochondrial", "tax_id": 9606, "disease": "fumarase deficiency (Disease Ontology:DOID:0111261); primary biliary cholangitis (Disease Ontology:DOID:12236); Dubin-Johnson syndrome (Disease Ontology:DOID:12308); lung non-small cell carcinoma (Disease Ontology:DOID:3908); leiomyomatosis (Disease Ontology:DOID:5138); hereditary leiomyomatosis and renal cell cancer (MONDO:MONDO:0007888)", "pathway": " (hsa:2271); (R-HSA-71403); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 172, "publication_id_list": "1052766;10673423;10727444;11237011;11278619;11865300;11923310;12198491;12207025;13181903;14249115;14555658;14623864;14832224;14946179;15234968;15522782;15652751;15870080;15877282;15987702;16115876;16143825;16737955;16740313;17101804;17182618;17297443;17432878;17579211;17668387;18083107;18806796;18914071;19413330;1946331;19531498;19608861;19841671;2005110;20068231;20231875;20435888;20847235;21445611;22262461;22509282;22710082;23186163;23201127;23564345;23747254;23931759;24275569;24315374;24366607;24419633;24520911;24715725;25564869;25576301;26154972;26237645;26504172;26923599;26992070;27037871;27189937;27374498;27496948;27600516;27642048;27846572;27920218;28218747;28228285;28377575;28396416;28467828;28514659;28628081;28649982;28832583;28834231;28887308;28904123;29242379;29301859;29314611;29456767;29557506;29632711;29786170;29932645;30120231;30315122;30429286;30484775;30524438;30573663;30683654;30718813;30761759;30833945;30844107;31154438;31217245;31327635;31530632;31695197;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32502341;32938616;32983136;33058874;33141586;33257573;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34509645;34561969;34704252;34725712;34932366;34943861;35051231;35154160;35251023;35318648;35366151;35561310;35580925;35870450;36010968;36139014;36215666;36241641;36284347;36420423;36629048;3828494;38481055;38665916;38793008;39534244;40596516;7623837;8200987;8616157;9635293;9765290;9765291;9792106;9792662;9809442", "class_list": "", "function": "Catalyzes the dehydration of L-malate to fumarate (By similarity). Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by-product of the urea cycle and amino-acid catabolism (By similarity). Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ) (PubMed:20231875, PubMed:26237645). In response to DNA damage and phosphorylation by PRKDC, translocates to the nucleus and accumulates at DNA double-strand breaks (DSBs): acts by catalyzing formation of fumarate, an inhibitor of KDM2B histone demethylase activity, resulting in enhanced dimethylation of histone H3 'Lys-36' (H3K36me2) (PubMed:26237645)., [UniProtKB, UniProtKB, PubMed, PubMed]; Catalyzes the dehydration of L-malate to fumarate. Fumarate metabolism in the cytosol plays a role during urea cycle and arginine metabolism; fumarate being a by-product of the urea cycle and amino-acid catabolism. Also plays a role in DNA repair by promoting non-homologous end-joining (NHEJ). In response to DNA damage and phosphorylation by PRKDC, translocates to the nucleus and accumulates at DNA double-strand breaks (DSBs): acts by catalyzing formation of fumarate, an inhibitor of KDM2B histone demethylase activity, resulting in enhanced dimethylation of histone H3 'Lys-36' (H3K36me2)., [UniProtKB, UniProtKB]; Catalyzes the hydration of fumarate to L-malate in the tricarboxylic acid (TCA) cycle to facilitate a transition step in the production of energy in the form of NADH., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Catalyzes the reversible stereospecific interconversion of fumarate to L-malate (PubMed:30761759). Experiments in other species have demonstrated that specific isoforms of this protein act in defined pathways and favor one direction over the other (Probable)., [UniProtKB, PubMed]; Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array-CGH interpretation., [RefSeq, PubMed]; Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer, [RefSeq, PubMed]; The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]., [RefSeq]; Uterine Leiomyomas with Specific Histology Features of Two Fumarate Hydratase/Succinate Dehydrogenase-Deficient Tumors: A Double Case Report. 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 34, "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": "B1ANK7", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0004333 fumarate hydratase 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:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0006106 fumarate metabolic process;GO:0006099 tricarboxylic acid cycle;GO:0006281 DNA repair;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "P07954-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14324-1", "uniprot_id": [ { "id": "FPPS_HUMAN", "url": "https://www.uniprot.org/uniprot/P14324", "type": "external" } ], "mass": 48275.0, "length": 419, "protein_name": "Farnesyl pyrophosphate synthase", "gene_name": "FDPS", "organism": "Human", "refseq_name": "farnesyl pyrophosphate synthase isoform a", "refseq_ac": [ { "id": "NP_001129293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129293", "type": "external" } ], "gene_names_uniprotkb": "FDPS; FPS; KIAA1293", "gene_names_refseq": "FDPS; FPPS; FPS; POROK9", "protein_names_uniprotkb": "Farnesyl pyrophosphate synthase; (2E,6E)-farnesyl diphosphate synthase; 2.5.1.10; 2.5.1.1; Dimethylallyltranstransferase; FPP synthase; FPS; Farnesyl diphosphate synthase; Geranyltranstransferase", "protein_names_refseq": "(2E,6E)-farnesyl diphosphate synthase; FPP synthase; FPP synthetase; farnesyl pyrophosphate synthase isoform a; farnesyl pyrophosphate synthase; farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); developmental and epileptic encephalopathy 52 (Disease Ontology:DOID:0080455); Brugada syndrome 5 (Disease Ontology:DOID:0110222); generalized epilepsy with febrile seizures plus 1 (Disease Ontology:DOID:0111302); alcohol use disorder (Disease Ontology:DOID:1574); porokeratosis (Disease Ontology:DOID:3805); type 2 diabetes mellitus (Disease Ontology:DOID:9352); porokeratosis 9, multiple types (MONDO:MONDO:0014713)", "pathway": " (hsa:2224); (R-HSA-2426168); (R-HSA-9969896)", "pathway_count": 3, "publication_count": 183, "publication_id_list": "10026212;10400691;10620343;10666321;10759542;10896663;11160603;11237011;11414710;11773414;12083769;12177166;12764144;1377680;14729858;14730012;14766201;15104674;15827605;15944288;16115862;16464866;16519518;16684881;16892359;17308301;17449569;17925399;18005724;18327899;18559965;18654640;18682402;18726356;18937434;19309137;19608861;1968462;20138239;20394422;20450493;20719759;20937905;21420384;21972290;22223895;22634312;23481700;24366607;24715725;25418920;25469497;25576301;25645385;25810538;25880248;25892735;26154972;26202976;26758079;26768311;26811146;2690933;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28855257;28860189;28904123;29192674;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30429286;30484775;30524438;30573663;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33246356;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34725712;34751146;34885721;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37310396;37938771;38665916;38891810;40596516;40914422;5918048;7567999;7592729;7732023;7909540;7911016;7913309;8020941;8593458;8619637;8626466;8626488;8647822;8663599;8798690;8806705;8976377;9099716;9380443;9604010;9634533;9741684;9748295", "class_list": "", "function": "Farnesyl Diphosphate Synthase Gene Associated with Loss of Bone Mass Density and Alendronate Treatment Failure in Patients with Primary Osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Farnesyl diphosphate synthase exacerbates nonalcoholic steatohepatitis via the activation of AHR-CD36 axis., [RefSeq, PubMed]; Key enzyme in isoprenoid biosynthesis which catalyzes the formation of farnesyl diphosphate (FPP), a precursor for several classes of essential metabolites including sterols, dolichols, carotenoids, and ubiquinones. FPP also serves as substrate for protein farnesylation and geranylgeranylation. Catalyzes the sequential condensation of isopentenyl pyrophosphate with the allylic pyrophosphates, dimethylallyl pyrophosphate, and then with the resultant geranylpyrophosphate to the ultimate product farnesyl pyrophosphate., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]., [RefSeq]; Towards an Improvement of Anticancer Activity of Benzyl Adenosine Analogs. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DV91;E9PCI9;Q96G29", "ec_number_list": [ { "id": "2.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.1", "type": "external" }, { "id": "2.5.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.10", "type": "external" }, { "id": "2.5.1.29", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.29", "type": "external" }, { "id": "2.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.-", "type": "external" } ], "go_molecular_function": "GO:0004161 dimethylallyltranstransferase activity;GO:0004337 (2E,6E)-farnesyl diphosphate synthase activity;GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0004659 prenyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005777 peroxisome;GO:0005829 cytosol", "go_biological_process": "GO:0033384 geranyl diphosphate biosynthetic process;GO:0045337 farnesyl diphosphate biosynthetic process;GO:0006695 cholesterol biosynthetic process;GO:0033386 geranylgeranyl diphosphate biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "P14324-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25089-1", "uniprot_id": [ { "id": "FPR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P25089", "type": "external" } ], "mass": 39965.0, "length": 353, "protein_name": "N-formyl peptide receptor 3", "gene_name": "FPR3", "organism": "Human", "refseq_name": "N-formyl peptide receptor 3", "refseq_ac": [ { "id": "NP_002021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002021", "type": "external" } ], "gene_names_uniprotkb": "FPR3; FPRL2", "gene_names_refseq": "FML2_HUMAN; FMLP-R-II; FMLPY; FPR3; FPRH1; FPRH2; FPRL2; RMLP-R-I", "protein_names_uniprotkb": "N-formyl peptide receptor 3; FMLP-R-II; FMLP-related receptor II; Formyl peptide receptor-like 2", "protein_names_refseq": "FMLP-related receptor II; N-formyl peptide receptor 3; formyl peptide receptor-like 2", "tax_id": 9606, "disease": "maturity-onset diabetes of the young (Disease Ontology:DOID:0050524); hepatocellular adenoma (Disease Ontology:DOID:0050868); type 1 diabetes mellitus 20 (Disease Ontology:DOID:0110757); maturity-onset diabetes of the young type 3 (Disease Ontology:DOID:0111102); familial hepatic adenoma (Disease Ontology:DOID:0111366); pre-eclampsia (Disease Ontology:DOID:10591); glucose intolerance (Disease Ontology:DOID:10603); gestational diabetes (Disease Ontology:DOID:11714); extrahepatic cholestasis (Disease Ontology:DOID:13619); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); renal cell carcinoma (Disease Ontology:DOID:4450); chromophobe renal cell carcinoma (Disease Ontology:DOID:4471); kidney disease (Disease Ontology:DOID:557); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); phenylketonuria (Disease Ontology:DOID:9281); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:2359); (R-HSA-418594); (R-HSA-444473)", "pathway_count": 3, "publication_count": 33, "publication_id_list": "11007482;12120503;12223529;12410796;1374236;15187149;15465011;15623572;15951850;1612600;16634148;16923326;18434541;18577758;2161213;24108355;2534964;25605714;2748346;27862975;2834384;29557506;29786170;31116781;32152757;32983136;35051231;36750693;38614385;7937899;8015379;8198572;8406495", "class_list": "", "function": "D-Peptide analogues of Boc-Phe-Leu-Phe-Leu-Phe-COOH induce neovascularization via endothelial N-formyl peptide receptor 3., [RefSeq, PubMed]; FPR3 reprograms glycolytic metabolism and stemness in gastric cancer via calcium-NFATc1 pathway., [RefSeq, PubMed]; Formyl peptide receptor 2 is an emerging modulator of inflammation in the liver. Review article, [RefSeq, PubMed]; Human dendritic cells express functional FPRL2 throughout maturation. FPRL2 & its endogenous ligand may be involved in regulating DC trafficking during Ag uptake & processing s well as the T-cell-stimulating phase of the immune responses., [RefSeq, PubMed]; Investigated the direct effect of LXA4 as well as the effect on agonist-induced biological responses using transfected HL-60 cells expressing FPR, FPRL1 or FPRL2, [RefSeq, PubMed]; Low FPR3 expression is associated with obstructive sleep apnea. Publication Status: Online-Only, [RefSeq, PubMed]; May function as a pattern recognition G protein-coupled receptor (PRR/GPCR) involved in innate recognition of peptides derived from a specific set of bacterial pathogens or host mitochondria as pathogen- and damage-associated molecular patterns (PAMPs and DAMPs) (PubMed:24108355, PubMed:25605714). Low affinity receptor for a restricted repertoire of bacterial N-formylated peptides including fMKKIML from L. monocytogenes and fMPKLNR from V. cholerae. Contrary to FPR1 and FPR2 does not act as a receptor for fMLF peptide (PubMed:15187149, PubMed:25605714). High affinity receptor for N-acetylated F2L peptide derived from the cleavage of heme-binding protein HEBP1. F2L peptide binding may trigger chemotaxis of monocytes and dendritic cells to facilitate tissue repair (PubMed:15623572). Low affinity receptor for N-acetylated Ac2-26 peptide derived from ANXA1, an anti-inflammatory and pro-resolving agonist. Ac2-26 peptide binding can direct myeloid cell chemotaxis within the inflammatory site where ANXA1 is at high concentrations, but it can also lead to receptor desensitization to limit the inflammatory response (PubMed:15187149). Receptor for MT-RNR2/humanin, a mitochondrial-derived peptide that has an anti-inflammatory role in resolution of inflammation (PubMed:15465011). Peptide binding leads to conformational changes coupled to heterotrimeric G(i) protein signaling. Upon GDP to GTP conversion, G(i)-alpha subunit dissociates from G-beta and G-gamma subunits. Free G(i)-alpha subunit inhibits cyclic adenylate cyclase and cAMP synthesis whereas the G-beta and G-gamma dimer activates downstream phospholipase C-beta and phosphoinositide 3-kinase signaling cascades leading to Ca(2+) influx (PubMed:15187149, PubMed:15465011, PubMed:15623572, PubMed:25605714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 19, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004875 complement receptor activity;GO:0004982 N-formyl peptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007204 positive regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "P25089-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43694-1", "uniprot_id": [ { "id": "GATA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P43694", "type": "external" } ], "mass": 44565.0, "length": 442, "protein_name": "Transcription factor GATA-4", "gene_name": "GATA4", "organism": "Human", "refseq_name": "transcription factor GATA-4 isoform 1", "refseq_ac": [ { "id": "NP_001295022", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295022", "type": "external" } ], "gene_names_uniprotkb": "GATA4", "gene_names_refseq": "ASD2; GATA4; TACHD; TOF; VSD1", "protein_names_uniprotkb": "Transcription factor GATA-4; GATA-binding factor 4", "protein_names_refseq": "GATA-binding factor 4; transcription factor GATA-4 isoform 1; transcription factor GATA-4", "tax_id": 9606, "disease": "atrioventricular septal defect (Disease Ontology:DOID:0050651); atrial heart septal defect 2 (Disease Ontology:DOID:0110107); ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); atrial heart septal defect (Disease Ontology:DOID:1882); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); myocardial infarction (Disease Ontology:DOID:5844); tetralogy of Fallot (Disease Ontology:DOID:6419); pulmonary hypertension (Disease Ontology:DOID:6432); testicular anomalies with or without congenital heart disease (MONDO:MONDO:0014239)", "pathway": " (hsa:2626); (R-HSA-2032785); (R-HSA-400511); (R-HSA-5578768); (R-HSA-9690406); (R-HSA-9733709); (R-HSA-9758920); (R-HSA-9823730); (R-HSA-983231); (R-HSA-9925561); (R-HSA-9925563); (R-HSA-9937080)", "pathway_count": 12, "publication_count": 141, "publication_id_list": "10366038;10587520;10880574;11042108;11062261;11207191;11237011;11242053;11278460;11585926;11744692;11751636;11895428;11950885;12032298;12134158;12427746;12670947;12845333;14559895;15020713;15095414;15146390;15247287;15584901;15710388;15734735;15810002;15889150;16054028;16219666;1630448;16332960;1672777;17027967;17196961;17204604;17643447;17660514;18055909;18202141;18445271;18519800;18579750;18593849;18672102;19293402;19324876;19324877;19413330;19479054;19546173;19564924;19934029;20081228;20110263;20347099;20530532;20627800;20659440;21110066;21220346;21245162;21412441;2144260;21447557;21630377;21637914;21855631;218813;22101736;22227582;22734001;22899867;23811561;24000169;24041700;25017055;25187301;25202235;25830299;25843708;26015544;26783251;26817948;26845023;26990595;26992070;27535533;27705785;27788486;27920218;27984724;28472341;28832583;2890159;29242379;29393594;29636455;30187949;30552336;30620550;30629940;32157095;32506827;32795420;32897882;32938616;33054971;33968037;3409321;34171305;34357683;34405274;35051231;35182466;36241641;36284347;37340703;38456293;38605949;38653973;39242200;39302247;39531497;39904978;7721094;8100523;8428636;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9584153;9651244;9774680;9815658;9927674", "class_list": "", "function": "DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81 and NTRK1 in endometrial hyperplasia., [RefSeq, PubMed]; Data demonstrate the key role of GATA4 in human testicular development., [RefSeq, PubMed]; Enhanced GATA4 expression in senescent systemic lupus erythematosus monocytes promotes high levels of IFNalpha production. Publication Status: Online-Only, [RefSeq, PubMed]; GATA4 regulates the transcription of MMP9 to suppress the invasion and migration of breast cancer cells via HDAC1-mediated p65 deacetylation. Publication Status: Online-Only, [RefSeq, PubMed]; Results implicate GATA4 as a genetic cause of human cardiac septal defects, perhaps through its interaction with TBX5, [RefSeq, PubMed]; Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China., [RefSeq, PubMed]; This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]., [RefSeq]; Transcriptional activator that binds to the consensus sequence 5'-AGATAG-3' and plays a key role in cardiac development and function (PubMed:24000169, PubMed:27984724, PubMed:35182466). In cooperation with TBX5, it binds to cardiac super-enhancers and promotes cardiomyocyte gene expression, while it down-regulates endocardial and endothelial gene expression (PubMed:27984724). Involved in bone morphogenetic protein (BMP)-mediated induction of cardiac-specific gene expression. Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). Acts as a transcriptional activator of ANF in cooperation with NKX2-5 (By similarity). Promotes cardiac myocyte enlargement (PubMed:20081228). Required during testicular development (PubMed:21220346). May play a role in sphingolipid signaling by regulating the expression of sphingosine-1-phosphate degrading enzyme, sphingosine-1-phosphate lyase (PubMed:15734735)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, 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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKX0;B7ZKZ4;Q3MJ45;Q5IFM8", "ec_number_list": [], "go_molecular_function": "GO:0070410 co-SMAD binding;GO:0051525 NFAT protein binding;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0036302 atrioventricular canal development;GO:0061026 cardiac muscle tissue regeneration;GO:0003208 cardiac ventricle morphogenesis;GO:0003290 atrial septum secundum morphogenesis;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "P43694-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54826-1", "uniprot_id": [ { "id": "GAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54826", "type": "external" } ], "mass": 35693.0, "length": 345, "protein_name": "Growth arrest-specific protein 1", "gene_name": "GAS1", "organism": "Human", "refseq_name": "growth arrest-specific protein 1 precursor", "refseq_ac": [ { "id": "NP_002039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002039", "type": "external" } ], "gene_names_uniprotkb": "GAS1", "gene_names_refseq": "GAS1", "protein_names_uniprotkb": "Growth arrest-specific protein 1; GAS-1", "protein_names_refseq": "GAS-1; Growth arrest-specific gene-1; growth arrest-specific protein 1 precursor; growth arrest-specific protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2619); (R-HSA-5632681); (R-HSA-5635838)", "pathway_count": 3, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10050855;10966113;11841368;12569124;14614827;14636583;15019948;15294024;15618519;15691767;16136078;16630821;16647304;16908539;17086203;17504940;17504941;17641202;17960137;18497258;18559595;18794898;18815277;19196978;19218434;19365551;19561609;19561611;19948480;20519495;20844013;20844016;21356043;21659505;21664576;21664577;21695114;21802063;21842183;22277298;22326621;22981989;22986504;23026747;23090970;23719536;23877428;23900540;24190977;24582806;24845016;24925320;25576301;29941984;30327548;34796774;35231446;38816533;8127893;8898207;8906787;8906794", "class_list": "", "function": "Coreceptor required for sonic hedgehog (SHH) handoff to its receptor: binds to the dually lipid-modified Sonic hedgehog protein N-product (ShhN) downstream of the CDON-BOC heterodimer and directly transfers ShhN to its patched receptor (PTCH1 or PTCH2), followed by activation of the smoothened signaling pathway (PubMed:35231446). Specifically recognizes and binds palmitate and cholesterol moieties in dually lipid-modified ShhN (PubMed:35231446). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity). Acts as a growth arrest protein involved in growth suppression by blocking entry to S phase (PubMed:8127893)., [UniProtKB, PubMed, UniProtKB, PubMed]; Gas1 Regulates Patterning of the Murine and Human Dentitions through Sonic Hedgehog., [RefSeq, PubMed]; Growth arrest-specific 1 plays a role in growth suppression. GAS1 blocks entry to S phase and prevents cycling of normal and transformed cells. Gas1 is a putative tumor suppressor gene. [provided by RefSeq, Jul 2008]., [RefSeq]; T is relevant to investigate the potential additive effect of the overexpression of GAS1 and PTEN on tumor growth. In particular, we employed secreted forms of both GAS1 (tGAS1) and PTEN (PTEN-LONG, or PTEN-L) and tested their combined effect on glioma cells., [RefSeq, PubMed]; TCF7L1 regulates colorectal cancer cell migration by repressing GAS1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; This study has identified Gas1 as a novel factor and mechanism through which microglia arrest the growth of human brain tumor-initiating cells for anti-tumor property. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "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": "B9EGM4;Q6B086", "ec_number_list": [], "go_molecular_function": "GO:0008142 oxysterol binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0060628 regulation of ER to Golgi vesicle-mediated transport;GO:0045930 negative regulation of mitotic cell cycle;GO:0042981 regulation of apoptotic process;GO:0048589 developmental growth;GO:0035924 cellular response to vascular endothelial growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P54826-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58550-1", "uniprot_id": [ { "id": "FXYD8_HUMAN", "url": "https://www.uniprot.org/uniprot/P58550", "type": "external" } ], "mass": 10590.0, "length": 94, "protein_name": "Putative FXYD domain-containing ion transport regulator 8", "gene_name": "FXYD6P3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FXYD6P3; FXYD8", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative FXYD domain-containing ion transport regulator 8", "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": "Q5JTT7", "ec_number_list": [], "go_molecular_function": "GO:0017080 sodium channel regulator activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:1903278 positive regulation of sodium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P58550-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63145-1", "uniprot_id": [ { "id": "GAK24_HUMAN", "url": "https://www.uniprot.org/uniprot/P63145", "type": "external" } ], "mass": 74040.0, "length": 666, "protein_name": "Endogenous retrovirus group K member 24 Gag polyprotein", "gene_name": "ERVK-24", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVK-24", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 24 Gag polyprotein; Gag polyprotein; HERV-K101 Gag protein; HERV-K_22q11.21 provirus ancestral Gag polyprotein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "10469592;11401426;12060620;12629516;32967941;7983737", "class_list": "", "function": "May possess a function in tumorigenesis., [UniProtKB]; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases., [UniProtKB]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]; The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution., [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": "Q9UKI1", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding;GO:0004190 aspartic-type endopeptidase activity;GO:0005198 structural molecule activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0075523 viral translational frameshifting", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P63145-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12950-1", "uniprot_id": [ { "id": "FOXD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12950", "type": "external" } ], "mass": 47309.0, "length": 439, "protein_name": "Forkhead box protein D4", "gene_name": "FOXD4", "organism": "Human", "refseq_name": "forkhead box protein D4", "refseq_ac": [ { "id": "NP_997188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997188", "type": "external" } ], "gene_names_uniprotkb": "FOXD4; FKHL9; FOXD4A; FREAC5", "gene_names_refseq": "FKHL9; FOXD4A; FOXD4; FREAC-5; FREAC5", "protein_names_uniprotkb": "Forkhead box protein D4; FREAC-5; Forkhead-related protein FKHL9; Forkhead-related transcription factor 5; Myeloid factor-alpha", "protein_names_refseq": "forkhead box protein D4; forkhead, Drosophila, homolog-like 9; forkhead-related activator 5; forkhead-related protein FKHL9; forkhead-related transcription factor 5; myeloid factor-alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:2298)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12234674;12421752;17273782;22876580;31530632;35051231;7957066", "class_list": "", "function": "FOXd4 encodes forkhead box D4 protein., [RefSeq, PubMed]; The W148R mutation disrupts an extremely highly conserved tryptophan residue in the forkhead domain of FOXD4, possibly resulting in reduced DNA binding capacity and altered transcriptional activity., [RefSeq, PubMed]; This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. Mutations in this gene are associated with a complex phenotype consisting of dilated cardiomyopathy, obsessive-compulsive disorders, and suicidality. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RN05;B9EGL7;Q5VVK1;Q8WXT6", "ec_number_list": [], "go_molecular_function": "GO:0008301 DNA binding, bending;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_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:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q12950-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13069-1", "uniprot_id": [ { "id": "GAGE5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13069", "type": "external" } ], "mass": 12924.0, "length": 117, "protein_name": "G antigen 5", "gene_name": "GAGE5", "organism": "Human", "refseq_name": "G antigen 5", "refseq_ac": [ { "id": "NP_001466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001466", "type": "external" } ], "gene_names_uniprotkb": "GAGE5", "gene_names_refseq": "CT4.5; GAGE5", "protein_names_uniprotkb": "G antigen 5; CT4.5; Cancer/testis antigen 4.5; GAGE-5", "protein_names_refseq": "G antigen 5; GAGE-5; cancer/testis antigen 4.5; cancer/testis antigen family 4, member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:2576); (hsa:2577)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "10397259;18179644;32157095;35051231;7544395", "class_list": "", "function": "This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YYWPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. [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": "Q6FG72", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q13069-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14393-2", "uniprot_id": [ { "id": "GAS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14393", "type": "external" } ], "mass": 74925.0, "length": 678, "protein_name": "Growth arrest-specific protein 6", "gene_name": "GAS6", "organism": "Human", "refseq_name": "growth arrest-specific protein 6 precursor", "refseq_ac": [ { "id": "NP_000811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000811", "type": "external" } ], "gene_names_uniprotkb": "GAS6; AXLLG", "gene_names_refseq": "AXLLG; AXSF; GAS6", "protein_names_uniprotkb": "Growth arrest-specific protein 6; AXL receptor tyrosine kinase ligand; GAS-6", "protein_names_refseq": "AXL receptor tyrosine kinase ligand; AXL stimulatory factor; growth arrest-specific protein 6 precursor; growth arrest-specific protein 6", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); glomerulonephritis (Disease Ontology:DOID:2921)", "pathway": " (hsa:2621); (R-HSA-114608); (R-HSA-159740); (R-HSA-159763); (R-HSA-159782); (R-HSA-202733); (R-HSA-381426); (R-HSA-8957275); (R-HSA-9918485)", "pathway_count": 9, "publication_count": 198, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10068650;10077652;10218588;10512690;10606205;10614670;10681634;10764623;10810289;10898936;10912521;10917896;10951195;10990447;11158056;11207550;11250653;11252894;11256994;11264294;11316783;11337487;11513608;11522292;11564780;11606061;11739083;11751371;11779189;11788658;11812992;12070135;12208882;12241545;12364394;12379487;12466191;12469115;12682107;12782713;12810533;12904166;1370451;1383255;1435334;14529530;14615387;14630798;15000751;15098107;15108283;15126567;15297306;15308688;15469690;15485880;15507651;15525596;15528364;15642270;15681301;15721307;15838506;1591491;16258728;16297198;16362042;16585556;16691243;16737840;16783819;17005688;17047378;17064312;17099249;17116209;17167768;17172599;17249697;17312271;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;17985932;18266465;18510355;18840707;19279206;21193412;21501828;21659548;23084921;23640497;23658209;23945545;24043627;24074594;24764293;2476804;2479552;2538457;25576301;25753038;26056282;26091039;26212330;26468529;2664828;26992070;2738071;27832191;27862975;29393594;29557506;29610346;29742433;29789417;31154438;31720911;31848261;32157095;32161166;32350084;32387766;32938616;33141586;33392160;33592498;33968037;34509645;35051231;35251023;35561310;35580925;36284347;37074911;37801445;37820442;37938771;38575045;38648454;38665916;468991;6457647;6967872;7509040;7519608;7521878;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7854420;7867073;8163559;8166770;8314844;8336730;8467233;8473289;8530480;8621659;8781553;8817670;8894645;8939948;8964575;9052782;9169774;9242610;9295288;9326368;9326369;9382878;9497324;9693095;9709957;9733769;9763524;9786878;9922210;9931503", "class_list": "", "function": "(Microbial infection) Can bridge virus envelope phosphatidylserine to the TAM receptor tyrosine kinase Axl to mediate viral entry by apoptotic mimicry (PubMed:21501828). Plays a role in Dengue cell entry by apoptotic mimicry (PubMed:23084921). Plays a role in Vaccinia virus cell entry by apoptotic mimicry (PubMed:21501828). Plays a role in ebolavirus and marburgvirus cell entry by apoptotic mimicry (PubMed:17005688)., [UniProtKB, PubMed, PubMed, PubMed]; Duodenal mucosa of untreated celiac disease patients has altered expression of the GAS6 and PROS1 and the negative regulator tyrosine kinase TAM receptors subfamily., [RefSeq, PubMed]; Influence of serum Gas6 levels on prognosis in patients with hepatocellular carcinoma., [RefSeq, PubMed]; Ligand for tyrosine-protein kinase receptors AXL, TYRO3 and MER whose signaling is implicated in cell growth and survival, cell adhesion and cell migration. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses., [UniProtKB, PubMed, PubMed]; Serum GAS6, sAXL, IL-10, NO, and BCL-2 levels are decreased in patients with Behcet's disease., [RefSeq, PubMed]; The role of the Gas6/TAM signal pathway in the LPS-induced pulmonary epithelial cells injury., [RefSeq, PubMed]; This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 6, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KRQ7;B3KVL4;E9PBL7;Q6IMN1;Q7Z7N3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen", "go_biological_process": "GO:0035457 cellular response to interferon-alpha;GO:0001961 positive regulation of cytokine-mediated signaling pathway;GO:0071307 cellular response to vitamin K;GO:0085029 extracellular matrix assembly;GO:0097241 hematopoietic stem cell migration to bone marrow", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q14393-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15007-1", "uniprot_id": [ { "id": "FL2D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15007", "type": "external" } ], "mass": 44244.0, "length": 396, "protein_name": "Pre-mRNA-splicing regulator WTAP", "gene_name": "WTAP", "organism": "Human", "refseq_name": "pre-mRNA-splicing regulator WTAP isoform 1", "refseq_ac": [ { "id": "NP_001257460", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257460", "type": "external" } ], "gene_names_uniprotkb": "WTAP; KIAA0105", "gene_names_refseq": "Mum2; WTAP", "protein_names_uniprotkb": "Pre-mRNA-splicing regulator WTAP; Female-lethal(2)D homolog; WT1-associated protein; Wilms tumor 1-associating protein; hFL(2)D", "protein_names_refseq": "PNAS-132; Wilms tumor 1 associated protein; Wilms' tumour 1-associating protein; female-lethal(2)D homolog; hFL(2)D; pre-mRNA-splicing regulator WTAP isoform 1; pre-mRNA-splicing regulator WTAP; putative pre-mRNA splicing regulator female-lethal(2D); wilms tumor 1-associating protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9589); (R-HSA-72203)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "11001926;11237011;12444081;14675924;17081983;17088532;17095724;17525332;18077418;18452278;18491316;18669648;19413330;19651622;19664994;19664995;19690332;20068231;21406692;23186163;23301498;23481700;24100041;24316715;24407421;24714562;24981863;25418920;25576301;26154972;26375851;26458103;26728094;26929215;26992070;27600516;28063628;28218747;28510447;28649982;28832583;28834231;28904123;29242379;29348140;29393594;29437277;29506078;29507755;29508533;29557506;29632046;29632711;30315122;30429286;30524438;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32387766;32395117;32488085;32502341;32897882;32938616;32983136;33123756;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34312368;34405274;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;38662610;38746998;38787443;39007267;39433619;40914422;8352591;9409616", "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). Required for accumulation of METTL3 and METTL14 to nuclear speckle (PubMed:24316715, PubMed:24407421, PubMed:24981863). Acts as a mRNA splicing regulator (PubMed:12444081). Regulates G2/M cell-cycle transition by binding to the 3' UTR of CCNA2, which enhances its stability (PubMed:17088532). Impairs WT1 DNA-binding ability and inhibits expression of WT1 target genes (PubMed:17095724)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Elevated WTAP promotes hyperinflammation by increasing m6A modification in inflammatory disease models. Publication Status: Online-Only, [RefSeq, PubMed]; The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]; WTAP mediated m6A-modified circ_0056856 contributes to the proliferation, migration, and invasion of IL-22-stimulated human keratinocyte by miR-197-3p/CDK1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; WTAP promotes proliferation of esophageal squamous cell carcinoma via m[6]A-dependent epigenetic promoting of PTP4A1., [RefSeq, PubMed]; WTAP protein involved in the morphogenesis of the genitourinaty tract and in the etiology of isolated hypospadias., [RefSeq, PubMed]; WTAP-MEDIATED M6A MODIFICATION OF KLF6 AGGRAVATES HYPOXIA/REOXYGENATION-INDUCED HUMAN CARDIOMYOCYTE INJURY., [RefSeq, PubMed]; WTAP-dependent N6-methyladenosine methylation of lncRNA TEX41 promotes renal cell carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5TCL8;Q5TCL9;Q96T28;Q9BYJ7;Q9H4E2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0016556 mRNA modification;GO:0008380 RNA splicing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q15007-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2WGJ9-1", "uniprot_id": [ { "id": "FR1L6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2WGJ9", "type": "external" } ], "mass": 209308.0, "length": 1857, "protein_name": "Fer-1-like protein 6", "gene_name": "FER1L6", "organism": "Human", "refseq_name": "fer-1-like protein 6", "refseq_ac": [ { "id": "NP_001034201", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034201", "type": "external" } ], "gene_names_uniprotkb": "FER1L6; C8orfK23", "gene_names_refseq": "C8ORFK23; FER1L6", "protein_names_uniprotkb": "Fer-1-like protein 6", "protein_names_refseq": "fer-1-like 6; fer-1-like protein 6", "tax_id": 9606, "disease": "limb-girdle muscular dystrophy (Disease Ontology:DOID:11724)", "pathway": " (hsa:654463)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "19413330;20200978;26707827;28904123;29351928;29557506;29671580;29786170;29789417;31154438;31844290;31848261;32157095;32387766;32983136;33392160;33981976;34185709;35051231;38253038", "class_list": "", "function": "Calcium/phospholipid-binding protein which is essential for proper development of skeletal and cardiac muscle., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 63, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0055037 recycling endosome;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0048738 cardiac muscle tissue development;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q2WGJ9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4V321-1", "uniprot_id": [ { "id": "GAG13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4V321", "type": "external" } ], "mass": 12957.0, "length": 117, "protein_name": "G antigen 13", "gene_name": "GAGE13", "organism": "Human", "refseq_name": "G antigen 13", "refseq_ac": [ { "id": "NP_001091882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091882", "type": "external" } ], "gene_names_uniprotkb": "GAGE13; GAGE12A", "gene_names_refseq": "GAGE-12A; GAGE-13; GAGE12A; GAGE13", "protein_names_uniprotkb": "G antigen 13; G antigen 12A; GAGE-12A; GAGE-13", "protein_names_refseq": "G antigen 12A; G antigen 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:645051)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "18179644", "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": "A0A087X111", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q4V321-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H9T9-1", "uniprot_id": [ { "id": "FSCB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H9T9", "type": "external" } ], "mass": 87956.0, "length": 825, "protein_name": "Fibrous sheath CABYR-binding protein", "gene_name": "FSCB", "organism": "Human", "refseq_name": "fibrous sheath CABYR-binding protein", "refseq_ac": [ { "id": "NP_115511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115511", "type": "external" } ], "gene_names_uniprotkb": "FSCB; C14orf155", "gene_names_refseq": "C14orf155; FSCB", "protein_names_uniprotkb": "Fibrous sheath CABYR-binding protein", "protein_names_refseq": "fibrous sheath CABYR-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84075)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11230166;16959974;29242379;30379171;30451992;32938616;33968037;35051231", "class_list": "", "function": "May be involved in the later stages of fibrous sheath biogenesis and spermatozoa capacitation. Inhibits ROPN1 and ROPN1L SUMOylation. Binds calcium., [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": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5H9U7;Q86YI2;Q9H0J3", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0035686 sperm fibrous sheath;GO:0097228 sperm principal piece", "go_biological_process": "GO:0033234 negative regulation of protein sumoylation", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5H9T9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T1M5-1", "uniprot_id": [ { "id": "FKB15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T1M5", "type": "external" } ], "mass": 133630.0, "length": 1219, "protein_name": "FK506-binding protein 15", "gene_name": "FKBP15", "organism": "Human", "refseq_name": "FK506-binding protein 15", "refseq_ac": [ { "id": "NP_056073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056073", "type": "external" } ], "gene_names_uniprotkb": "FKBP15; KIAA0674", "gene_names_refseq": "FKBP133; FKBP15; KIAA0674; PPP1R76", "protein_names_uniprotkb": "FK506-binding protein 15; 133 kDa FK506-binding protein; 133 kDa FKBP; FKBP-133; FKBP-15; WAFL; WASP- and FKBP-like protein", "protein_names_refseq": "133 kDa FK506-binding protein; 133 kDa FKBP; FK506 binding protein 15, 133kDa; FK506-binding protein 133kDa; FK506-binding protein 15; FKBP prolyl isomerase 15; FKBP-133; FKBP-15; WAFL; WASP and FKBP-like protein; protein phosphatase 1, regulatory subunit 76", "tax_id": 9606, "disease": "", "pathway": " (hsa:23307)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "11237011;16964243;17081983;18077418;18318008;18452278;18491316;18669648;18707149;18767875;19121306;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068231;20376207;21406692;23186163;23301498;23481700;24275569;24366607;24714562;25576301;25892735;26154972;26375851;26728094;26992070;27397612;28218747;28228285;28514659;28832583;28834231;28904123;29084197;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29769354;29786170;30315122;30379171;30410026;31373491;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34019948;34087483;34171305;34185709;34357683;34405274;34509645;35051231;35132862;35154160;35251023;35254053;35561310;35580925;36010968;36241641;36581221;37938771;38665916", "class_list": "", "function": "Findings are compatible with a model whereby WAFL is involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement., [RefSeq, PubMed]; May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase (By similarity). Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement., [UniProtKB, PubMed]; 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": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 35, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q05DK8;Q5T1M2;Q6DD85;Q9Y4D0", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005769 early endosome;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0030426 growth cone;GO:0030424 axon", "go_biological_process": "GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q5T1M5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTH2-1", "uniprot_id": [ { "id": "FLTOP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTH2", "type": "external" } ], "mass": 19293.0, "length": 177, "protein_name": "Protein Flattop", "gene_name": "CFAP126", "organism": "Human", "refseq_name": "protein Flattop", "refseq_ac": [ { "id": "NP_001013647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013647", "type": "external" } ], "gene_names_uniprotkb": "CFAP126; C1orf192; FLTP", "gene_names_refseq": "C1orf192; CFAP126; Flattop; Fltp", "protein_names_uniprotkb": "Protein Flattop; Cilia- and flagella-associated protein 126", "protein_names_refseq": "UPF0740 protein C1orf192; protein Flattop", "tax_id": 9606, "disease": "", "pathway": " (hsa:257177)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "31848261;36191189;39165147;8889548", "class_list": "", "function": "Diabetes and CFAP126 gene mutation; are they really linked together? Publication Status: Online-Only, [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Acts as a regulator of cilium basal body docking and positioning in mono- and multiciliated cells (By similarity). Regulates basal body docking and cilia formation in multiciliated lung cells (By similarity). Regulates kinocilium positioning and stereocilia bundle morphogenesis in the inner ear (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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:0005929 cilium;GO:0016324 apical plasma membrane;GO:0036126 sperm flagellum;GO:0036064 ciliary basal body;GO:0005879 axonemal microtubule", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0044782 cilium organization", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5VTH2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q64ET8-1", "uniprot_id": [ { "id": "FRG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q64ET8", "type": "external" } ], "mass": 30490.0, "length": 278, "protein_name": "Protein FRG2", "gene_name": "FRG2", "organism": "Human", "refseq_name": "protein FRG2 isoform 2", "refseq_ac": [ { "id": "NP_001005217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005217", "type": "external" } ], "gene_names_uniprotkb": "FRG2; FRG2A", "gene_names_refseq": "FRG2A; FRG2", "protein_names_uniprotkb": "Protein FRG2; FSHD region gene 2 protein", "protein_names_refseq": "FSHD region gene 2 protein; protein FRG2 isoform 2; protein FRG2", "tax_id": 9606, "disease": "", "pathway": " (hsa:448831)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "15520407;20975055;21695143;25256356;32157095", "class_list": "", "function": "Clinically, patients with FSHD2 are indistinguishable from patients with FSHD1. The present data suggest that FSHD1 and FSHD2 are the result of the same pathophysiologic process., [RefSeq, PubMed]; FRG2 is upregulated in differentiating myoblast cultures of autosomal dominant facioscapulohumeral muscular dystrophy patients., [RefSeq, PubMed]; New insights into the gene deregulation characterizing both FSHD-1 and FSHD-2, in which miRNAs may play a role, [RefSeq, PubMed]; Study showed that the variability in clinical severity of facioscapulohumeral muscular dystrophy in FSHD1 and FSHD2 individuals is dependent on individual differences in susceptibility to D4Z4 hypomethylation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "B7ZMJ1;E7EN36", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q64ET8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DA7-1", "uniprot_id": [ { "id": "FMN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DA7", "type": "external" } ], "mass": 157578.0, "length": 1419, "protein_name": "Formin-1", "gene_name": "FMN1", "organism": "Human", "refseq_name": "formin-1 isoform b", "refseq_ac": [ { "id": "NP_001096654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096654", "type": "external" } ], "gene_names_uniprotkb": "FMN1; FMN; LD", "gene_names_refseq": "FMN1; FMN; LD", "protein_names_uniprotkb": "Formin-1; Limb deformity protein homolog", "protein_names_refseq": "formin (limb deformity); formin-1 isoform b; limb deformity protein homolog", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741)", "pathway": " (hsa:342184)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15202026;1673046;23481700;24715725;25576301;25645385;25892735;27600516;27799367;27913680;28228285;29557506;29668357;30192525;30309655;30379171;31844290;31848261;32157095;32161166;32387766;32488085;32938616;33200553;33298915;33592498;33968037;34087483;35051231;35580925;36010968", "class_list": "", "function": "Actin arcs populating the medial, lamella-like region of the immunological synapse (IS) arise from linear actin filaments generated by one or more formins present at the IS distal edge., [RefSeq, PubMed]; Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk., [RefSeq, PubMed]; Formin-1 (FMN1) was shown to reside in the nucleus and studies indicate that some formins can shuttle in and out of the nucleus. Review article, [RefSeq, PubMed]; In the article it is discussed how and to what extent formins-mediated F-actin restoration might confer mechanostress resistance to the cell. (Review) Review article, [RefSeq, PubMed]; Plays a role in the formation of adherens junction and the polymerization of linear actin cables., [UniProtKB]; These findings reveal a previously unrecognized role for formin-dependent actin architectures in proximal TGF-beta signaling, [RefSeq, PubMed]; This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 38, "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": "Q3B7I6;Q3ZAR4;Q6ZSY1", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0045010 actin nucleation", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q68DA7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DX3-1", "uniprot_id": [ { "id": "FRPD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DX3", "type": "external" } ], "mass": 144282.0, "length": 1309, "protein_name": "FERM and PDZ domain-containing protein 2", "gene_name": "FRMPD2", "organism": "Human", "refseq_name": "FERM and PDZ domain-containing protein 2 isoform 5 precursor", "refseq_ac": [ { "id": "NP_001305120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305120", "type": "external" } ], "gene_names_uniprotkb": "FRMPD2; PDZD5C; PDZK4; PDZK5C", "gene_names_refseq": "FRMPD2; PDZD5C; PDZK4; PDZK5C", "protein_names_uniprotkb": "FERM and PDZ domain-containing protein 2; PDZ domain-containing protein 4; PDZ domain-containing protein 5C", "protein_names_refseq": "FERM and PDZ domain-containing protein 2 isoform 5 precursor; FERM and PDZ domain-containing protein 2; PDZ domain containing 5C; PDZ domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:143162)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;16959974;19706687;22068589;22424782;23213202;23481700;25576301;28228285;29393594;29786170;30379171;31844290;31848261;32983136;34561969;35051231;35580925;39894887", "class_list": "", "function": "Functions as a scaffold protein and likely plays a role in N-methyl-D-aspartic acid receptor (NMDAR)-mediated synaptic excitatory transmission (By similarity). May be involved in synapse formation in cone photoreceptor cells (By similarity). May play a role in the regulation of tight junction formation (PubMed:19706687). Binds phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) (PubMed:19706687). May play a role in the regulation of NOD2-mediated NF-kappa-B activation in immune response (PubMed:23213202)., [UniProtKB, PubMed, UniProtKB, PubMed]; These results provide novel insights into the molecular function of FRMPD2 and into the targeting mechanism of peripheral membrane proteins in polarized epithelial cells., [RefSeq, PubMed]; This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "B7WNW0;B7ZML5;Q2VY07;Q6GMQ9;Q6ZN38;Q6ZWI2;Q8N5T9", "ec_number_list": [], "go_molecular_function": "GO:0005545 1-phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0014069 postsynaptic density;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0070830 bicellular tight junction assembly", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q68DX3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IN97-1", "uniprot_id": [ { "id": "FRP2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IN97", "type": "external" } ], "mass": 35161.0, "length": 320, "protein_name": "Putative protein FRMPD2-like", "gene_name": "FRMPD2B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "FRMPD2B; FRMPD2L1; FRMPD2L2; FRMPD2P1; FRMPD2P2; PDZD5A; PDZD5B; PDZK5A; PDZK5B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein FRMPD2-like; FERM and PDZ domain-containing protein 2 pseudogene 1; FERM and PDZ domain-containing protein 2B pseudogene; PDZ domain-containing protein 5A", "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": "B2RPG2;Q5RJ30", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q6IN97-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PCT2-1", "uniprot_id": [ { "id": "FXL19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PCT2", "type": "external" } ], "mass": 75707.0, "length": 694, "protein_name": "F-box/LRR-repeat protein 19", "gene_name": "FBXL19", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 19 isoform 1", "refseq_ac": [ { "id": "NP_001093254", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093254", "type": "external" } ], "gene_names_uniprotkb": "FBXL19; FBL19", "gene_names_refseq": "CXXC11; FBXL19; Fbl19; JHDM1C", "protein_names_uniprotkb": "F-box/LRR-repeat protein 19; F-box and leucine-rich repeat protein 19", "protein_names_refseq": "F-box/LRR-repeat protein 19 isoform 1; F-box/LRR-repeat protein 19; jumonji C domain-containing 1C; jumonji C domain-containing histone demethylase 1C", "tax_id": 9606, "disease": "", "pathway": " (hsa:54620); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 172, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20953189;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22898188;22959436;23201271;23333871;23401859;23453757;23512198;23535662;23535663;23563313;23583660;23871831;23912815;23986495;24076655;24366543;24636985;24684802;24793695;24793696;25314029;25349211;25355947;25531226;25576301;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;28115426;28649982;28832583;29153394;29276034;29331515;29493099;29522376;29557506;29786170;30315122;30379171;30524438;30610225;31566718;31844290;32005965;32157095;32284348;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33444648;33592498;33936100;34087483;34211107;34278444;35051231;35318648;35561310;35580925;36215666;36284347;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXL19AS1 promotes the progression of nasopharyngeal carcinoma by acting as a competing endogenous RNA to sponge miR431 and upregulate PBOV1., [RefSeq, PubMed]; Long noncoding RNA FBXL19-AS1 induces tumor growth and metastasis by sponging miR-203a-3p in lung adenocarcinoma., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex that plays a role in different processes including cell migration, cell proliferation or cytoskeletal reorganization (PubMed:24684802, PubMed:29522376). Mediates RHOA ubiquitination and degradation in a ERK2-dependent manner (PubMed:23871831). Induces RAC1 and RAC3 degradation by the proteasome system and thereby regulates TGFB1-induced E-cadherin down-regulation and cell migration (PubMed:23512198, PubMed:24684802). Also mediates ubiquitination and degradation of IL-33-induced receptor IL1RL1 and subsequently blocks IL-33-mediated apoptosis (By similarity). Within the nucleus, binds to DNA containing unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides (PubMed:29276034). Recruits CDK-mediator to chromatin and targets CDK8 to promoters of silent developmental genes leading to induction of these genes during cell differentiation. In addition, plays a critical role in the recruitment of RNF20 to histone H2B leading to H2B mono-ubiquitination (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MT10;Q8N789;Q9NT14", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003712 transcription coregulator activity;GO:0032452 histone demethylase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0045322 unmethylated CpG binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q6PCT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q75VX8-1", "uniprot_id": [ { "id": "GARE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q75VX8", "type": "external" } ], "mass": 92882.0, "length": 874, "protein_name": "GRB2-associated and regulator of MAPK protein 2", "gene_name": "GAREM2", "organism": "Human", "refseq_name": "GRB2-associated and regulator of MAPK protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001161713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161713", "type": "external" } ], "gene_names_uniprotkb": "GAREM2; FAM59B; GAREML; HRIHFB2063; KIAA2038", "gene_names_refseq": "FAM59B; GAREM2; GAREML", "protein_names_uniprotkb": "GRB2-associated and regulator of MAPK protein 2; GRB2-associated and regulator of MAPK1-like", "protein_names_refseq": "GRB2 associated regulator of MAPK1 2; GRB2 associated, regulator of MAPK1-like; GRB2-associated and regulator of MAPK protein 2 isoform 1; GRB2-associated and regulator of MAPK protein 2; GRB2-associated and regulator of MAPK protein-like; GRB2-associated and regulator of MAPK1-like; family with sequence similarity 59, member B; protein FAM59B", "tax_id": 9606, "disease": "", "pathway": " (hsa:150946)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "23186163;23481700;24003223;30429286;31844290;33981976;35051231;36010968;36241641;9853615", "class_list": "", "function": "Probable adapter protein that may provide a link between cell surface epidermal growth factor receptor and the MAPK/ERK signaling pathway., [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": 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": "B5MC97;B7WNK9;Q8NF27;Q9UIK8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q75VX8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WP2-1", "uniprot_id": [ { "id": "GPBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WP2", "type": "external" } ], "mass": 53339.0, "length": 473, "protein_name": "Vasculin", "gene_name": "GPBP1", "organism": "Human", "refseq_name": "vasculin isoform 3", "refseq_ac": [ { "id": "NP_001120707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120707", "type": "external" } ], "gene_names_uniprotkb": "GPBP1; GPBP; SSH6", "gene_names_refseq": "GPBP1; GPBP; SSH6; VASCULIN", "protein_names_uniprotkb": "Vasculin; GC-rich promoter-binding protein 1; Vascular wall-linked protein", "protein_names_refseq": "vascular wall-linked protein; vasculin isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:65056)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;12842993;14612417;17672918;23186163;24129315;25576301;26154972;26375851;26992070;28218747;28228285;28514659;28832583;29242379;29331515;29393594;29437277;29557506;29632711;29786170;30410026;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33633747;33717175;33912179;33968037;34932366;35051231;35251023;35561310;35580925;36241641;37938771", "class_list": "", "function": "Functions as a GC-rich promoter-specific transactivating transcription factor., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Occurrence of an unusual TG 3' splice site in intron 9, [RefSeq, PubMed]; This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Vasculin is a novel vascular protein differentially expressed in human atherogenesis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "A6NKW3;Q6NSH6;Q9H0D4;Q9H785;Q9NSN4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q86WP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3X1-1", "uniprot_id": [ { "id": "FNBP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3X1", "type": "external" } ], "mass": 110266.0, "length": 1017, "protein_name": "Formin-binding protein 4", "gene_name": "FNBP4", "organism": "Human", "refseq_name": "formin-binding protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001305268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305268", "type": "external" } ], "gene_names_uniprotkb": "FNBP4; FBP30; KIAA1014", "gene_names_refseq": "FBP30; FNBP4", "protein_names_uniprotkb": "Formin-binding protein 4; Formin-binding protein 30", "protein_names_refseq": "formin-binding protein 30; formin-binding protein 4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23360)", "pathway_count": 1, "publication_count": 97, "publication_id_list": "10748127;11237011;15302935;16964243;17081983;17287340;17525332;17924679;18452278;18669648;18767875;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068230;20068231;21406692;23186163;23301498;23703728;24714562;25114211;25218447;25576301;25772364;25880248;26154972;26375851;26992070;27600516;27846572;27920218;28514659;28649982;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29508533;29557506;30059200;30379171;30429286;30620550;31217245;31373491;31492838;31844290;32119511;32157095;32357974;32387766;32488085;32502341;32574038;32938616;32983136;33214551;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34509645;34561969;34725712;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36241641;37217939;37541260;37938771;38665916;38838015;39531497;39534244;40307207", "class_list": "", "function": "A c.683C>T (p.Thr228Met) mutation in FNBP4 was found as a primary candidate to microphthalmia with limb anomalies, [RefSeq, PubMed]; This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]., [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": 21, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 21, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "Q9H985;Q9NT81;Q9Y2L7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q8N3X1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N461-1", "uniprot_id": [ { "id": "FXL16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N461", "type": "external" } ], "mass": 51658.0, "length": 479, "protein_name": "F-box/LRR-repeat protein 16", "gene_name": "FBXL16", "organism": "Human", "refseq_name": "F-box/LRR-repeat protein 16", "refseq_ac": [ { "id": "NP_699181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699181", "type": "external" } ], "gene_names_uniprotkb": "FBXL16; C16orf22; FBL16", "gene_names_refseq": "C16orf22; FBXL16; Fbl16; c380A1.1", "protein_names_uniprotkb": "F-box/LRR-repeat protein 16; F-box and leucine-rich repeat protein 16", "protein_names_refseq": "F-box/LRR-repeat protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:146330); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 148, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20043084;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25892735;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28218747;28832583;29153394;29242379;29437277;30315122;30610225;31154438;32005965;32157095;32284348;32983136;33444648;33912179;33981976;34333223;34818544;35051231;35580925;36106050;36241641;36581221;39420370;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "FBXL16 Promotes Endometrial Progesterone Resistance via PP2A(B55alpha) /Cyclin D1 Axis in Ishikawa. Publication Status: Online-Only, [RefSeq, PubMed]; FBXL16 modulates the proliferation and autophagy in breast cancer cells via activating SRC-3-AKT signaling pathway., [RefSeq, PubMed]; Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]; MiR-1307-5p enhances fibroblast transdifferentiation to exacerbate chronic obstructive pulmonary disease through regulating FBXL16/HIF1alpha axis. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex., [UniProtKB]; Suppression of breast cancer progression by FBXL16 via oxygen-independent regulation of HIF1alpha stability., [RefSeq, PubMed]; The expression of FBXL16 reproducibly upregulated in p16INK4A and p14ARF knockdown HeLa 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": 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": "B3KR59;D3DU60;Q2MHR2;Q96S14;Q9UJI0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0019005 SCF ubiquitin ligase complex", "go_biological_process": "GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q8N461-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N475-1", "uniprot_id": [ { "id": "FSTL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N475", "type": "external" } ], "mass": 95751.0, "length": 847, "protein_name": "Follistatin-related protein 5", "gene_name": "FSTL5", "organism": "Human", "refseq_name": "follistatin-related protein 5 isoform b precursor", "refseq_ac": [ { "id": "NP_001121899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121899", "type": "external" } ], "gene_names_uniprotkb": "FSTL5; KIAA1263", "gene_names_refseq": "FSTL5", "protein_names_uniprotkb": "Follistatin-related protein 5; Follistatin-like protein 5", "protein_names_refseq": "follistatin-like protein 5; follistatin-related protein 5 isoform b precursor; follistatin-related protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:56884)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "16959974;21911727;23481700;26045876;27600516;28832583;29557506;30255547;32357974;32740091;33105483;33298915;33592498;35051231;35580925", "class_list": "", "function": "FSTL5 expression denoted a dismal prognosis both within and across medulloblastoma subgroups., [RefSeq, PubMed]; FSTL5 plays a suppressive role in hepatocellular carcinoma. Down-regulation of FSTL5 could promote growth and survival of HCC cells by activation of Wnt/beta-catenin signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Follistatin Like 5 (FSTL5) inhibits epithelial to mesenchymal transition in hepatocellular carcinoma., [RefSeq, PubMed]; Genetic association and characterization of FSTL5 in isolated clubfoot., [RefSeq, PubMed]; Mechanistic investigation demonstrated that FSTL5 promoted Hepatocellular carcinoma (HCC) cell apoptosis in a caspase-dependent manner and regulated Bcl-2 family proteins. These results indicate that FSTL5 may be a potential novel target for HCC treatment, and a biomarker for tumor prognosis. Erratum:[J Cell Mol Med. 2021 Apr;25(7):3665. doi: 10.1111/jcmm.16364. PMID: 33835689], [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": 45, "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": "E9PCP6;Q9NSW7;Q9ULF7", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0030154 cell differentiation;GO:0030510 regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N475-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAP1-1", "uniprot_id": [ { "id": "CAST3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAP1", "type": "external" } ], "mass": 17846.0, "length": 163, "protein_name": "Putative protein CASTOR3P", "gene_name": "CASTOR3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CASTOR3P; CASTOR3; GATS; STAG3OS", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein CASTOR3P; CASTOR3 pseudogene; STAG3 opposite strand transcript protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "28904123;29557506;30379171;31844290;33592498;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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": "D6W5V0;Q68D93;Q6P198;Q6PII7;Q7Z720;Q86UK9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:1903577 cellular response to L-arginine;GO:1904262 negative regulation of TORC1 signaling", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NAP1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB37-1", "uniprot_id": [ { "id": "GALD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB37", "type": "external" } ], "mass": 23298.0, "length": 220, "protein_name": "Glutamine amidotransferase-like class 1 domain-containing protein 1", "gene_name": "GATD1", "organism": "Human", "refseq_name": "glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 7", "refseq_ac": [ { "id": "NP_001305753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305753", "type": "external" } ], "gene_names_uniprotkb": "GATD1; FERRY5; PDDC1", "gene_names_refseq": "FERRY5; FY5; Fy-5; GATD1; PDDC1", "protein_names_uniprotkb": "Glutamine amidotransferase-like class 1 domain-containing protein 1; Ferry endosomal RAB5 effector complex subunit 5; Fy-5; Parkinson disease 7 domain-containing protein 1", "protein_names_refseq": "Parkinson disease 7 domain containing 1; ferry endosomal RAB5 effector complex subunit 5; glutamine amidotransferase like class 1 domain containing 1; glutamine amidotransferase-like class 1 domain-containing protein 1 isoform 7; glutamine amidotransferase-like class 1 domain-containing protein 1; parkinson disease 7 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:347862)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;24714562;25418920;25576301;25645385;26154972;26728094;26758079;26811146;26992070;27846572;28218747;28832583;28904123;29242379;29557506;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33298915;33717175;33912179;33968037;34561969;34932366;35051231;35561310;35580925;37267905;37267906", "class_list": "", "function": "Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary) (PubMed:37267905, PubMed:37267906). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction (PubMed:37267905)., [UniProtKB, PubMed, PubMed]; Component of the FERRY complex (Five-subunit Endosomal Rab5 and RNA/ribosome intermediary). The FERRY complex directly interacts with mRNAs and RAB5A, and functions as a RAB5A effector involved in the localization and the distribution of specific mRNAs most likely by mediating their endosomal transport. The complex recruits mRNAs and ribosomes to early endosomes through direct mRNA-interaction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 13, "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": "B7ZKW5;Q2NL76;Q6ZQY0;Q8NAE0", "ec_number_list": [], "go_molecular_function": "GO:0019172 glyoxalase III activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0070062 extracellular exosome;GO:0005576 extracellular region", "go_biological_process": "GO:0019243 methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione;GO:1904580 regulation of intracellular mRNA localization", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8NB37-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92990-1", "uniprot_id": [ { "id": "GLMN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92990", "type": "external" } ], "mass": 68208.0, "length": 594, "protein_name": "Glomulin", "gene_name": "GLMN", "organism": "Human", "refseq_name": "glomulin isoform 2", "refseq_ac": [ { "id": "NP_001306612", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306612", "type": "external" } ], "gene_names_uniprotkb": "GLMN; FAP48; FAP68; VMGLOM", "gene_names_refseq": "FAP48; FAP68; FAP; FKBPAP; GLML; GLMN; GVM; VMGLOM", "protein_names_uniprotkb": "Glomulin; FAP; FK506-binding protein-associated protein; FKBP-associated protein", "protein_names_refseq": "FK506-binding protein-associated protein; FKBP-associated protein; glomulin isoform 2", "tax_id": 9606, "disease": "arteriovenous malformation (Disease Ontology:DOID:11294); glomus tumor (Disease Ontology:DOID:2431); glomangioma (Disease Ontology:DOID:2436)", "pathway": " (hsa:11146); (R-HSA-983168)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11062501;11164950;11237011;11350924;11571281;11845407;12604780;12646216;12904573;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;22223895;22405651;2261476;22748924;23301498;25576301;26375851;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;30325312;31844290;32350084;32357974;32502341;32938616;33912179;34019948;34357683;34725712;35051231;35251023;35705054;35732373;36010968;36241641;37938771;38253038;38489583;40596516;40914422;8955134;9380723;9668046", "class_list": "", "function": "GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations. Publication Status: Online-Only, [RefSeq, PubMed]; In summary, we present a case of congenital plaquetype GVM and a case of familial disseminated cutaneous GVM, both with the same glomulin gene mutation (c.157_161delAAGAA), but with different clinical expression., [RefSeq, PubMed]; Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation. Erratum:[Br J Dermatol. 2024 Aug 14;191(3):e6. doi: 10.1093/bjd/ljae212. PMID: 38776188], [RefSeq, PubMed]; Regulatory component of cullin-RING-based SCF (SKP1-Cullin-F-box protein) E3 ubiquitin-protein ligase complexes (PubMed:22405651, PubMed:22748924). Inhibits E3 ubiquitin ligase activity by binding to RBX1 (via RING domain) and inhibiting its interaction with the E2 ubiquitin-conjugating enzyme CDC34 (PubMed:22405651, PubMed:22748924). Inhibits RBX1-mediated neddylation of CUL1 (PubMed:22405651). Required for normal stability and normal cellular levels of key components of SCF ubiquitin ligase complexes, including FBXW7, RBX1, CUL1, CUL2, CUL3, CUL4A, and thereby contributes to the regulation of CCNE1 and MYC levels (By similarity). Essential for normal development of the vasculature (PubMed:11845407). Contributes to the regulation of RPS6KB1 phosphorylation (PubMed:11571281)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 5, "reported_glycation": 0, "reported_snv": 13, "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": "Q5VVC3;Q9BVE8", "ec_number_list": [], "go_molecular_function": "GO:0005171 hepatocyte growth factor receptor binding;GO:0005102 signaling receptor binding;GO:0031625 ubiquitin protein ligase binding;GO:0055105 ubiquitin-protein transferase inhibitor activity", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex;GO:0031463 Cul3-RING ubiquitin ligase complex;GO:0031461 cullin-RING ubiquitin ligase complex", "go_biological_process": "GO:0001570 vasculogenesis;GO:0007166 cell surface receptor signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0042130 negative regulation of T cell proliferation;GO:0001819 positive regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q92990-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q71SY5-1", "uniprot_id": [ { "id": "MED25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q71SY5", "type": "external" } ], "mass": 78171.0, "length": 747, "protein_name": "Mediator of RNA polymerase II transcription subunit 25", "gene_name": "MED25", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 25 isoform 1", "refseq_ac": [ { "id": "NP_112235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112235", "type": "external" } ], "gene_names_uniprotkb": "MED25; ACID1; ARC92; PTOV2; TCBAP0758", "gene_names_refseq": "ACID1; ARC92; BVSYS; CMT2B2; MED25; P78; PTOV2; TCBAP0758", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 25; ARC92; Activator interaction domain-containing protein 1; Activator-recruited cofactor 92 kDa component; Mediator complex subunit 25; p78", "protein_names_refseq": "ARC/mediator transcriptional coactivator subunit; activator interaction domain-containing protein 1; activator-recruited cofactor 92 kDa component; mediator of RNA polymerase II transcription subunit 25 isoform 1; mediator of RNA polymerase II transcription subunit 25; mediator of RNA polymerase II transcription, subunit 25 homolog; prostate-derived protein 78 kDa", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2B2 (Disease Ontology:DOID:0110179); congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome (MONDO:MONDO:0014643)", "pathway": " (hsa:81857); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 5, "publication_count": 141, "publication_id_list": "10075656;10235266;10330177;10425206;10777541;11095972;11230166;11237011;11267664;11395415;11607032;11872672;12118000;12163014;12177166;12213831;12505311;12582161;12829629;14519192;14657022;14976261;14983011;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17641689;17980149;18420935;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19290556;19710929;19934321;20101261;20110263;20410276;20974256;2163759;22090124;23239344;23481700;24196956;24715725;25505266;25527630;25576301;25792360;25826188;25854864;25880248;26154972;26375851;26992070;27846572;27862975;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29632711;29786170;29789417;30315122;30410026;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32825095;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34171305;34211107;34509645;35051231;35580925;36010968;36102648;36241641;36284347;39894887;7685352;7892212;8183939;8325954;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9454824;9637681;9653119;9748239;9836620", "class_list": "", "function": "An Unexpected Encounter: Respiratory Syncytial Virus Nonstructural Protein 1 Interacts with Mediator Subunit MED25. Review article, [RefSeq, PubMed]; Cloned a prostate-derived cDNA encoding a novel protein with a predicted molecular weight of 78 kDa (P(78)), and precisely mapped the cDNA sequence to chromosome 19, [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 preinitiation complex with RNA polymerase II and the general transcription factors. Required for RARA/RXRA-mediated transcription., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Multivalent and Bidirectional Binding of Transcriptional Transactivation Domains to the MED25 Coactivator. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [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": 0, "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": "A8K095;B9TX30;O95783;Q6P143;Q6QMH5;Q707U4;Q8TB55;Q9H0L5;Q9HB34", "ec_number_list": [], "go_molecular_function": "GO:0042974 nuclear retinoic acid receptor binding;GO:0001223 transcription coactivator binding;GO:0046965 nuclear retinoid X receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0016592 mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0035563 positive regulation of chromatin binding;GO:2001178 positive regulation of mediator complex assembly;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q71SY5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z417-1", "uniprot_id": [ { "id": "NUFP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z417", "type": "external" } ], "mass": 76121.0, "length": 695, "protein_name": "FMR1-interacting protein NUFIP2", "gene_name": "NUFIP2", "organism": "Human", "refseq_name": "FMR1-interacting protein NUFIP2", "refseq_ac": [ { "id": "NP_065823", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065823", "type": "external" } ], "gene_names_uniprotkb": "NUFIP2; KIAA1321; PIG1", "gene_names_refseq": "182-FIP; 82-FIP; FIP-82; NUFIP2; NUFP2; PIG1", "protein_names_uniprotkb": "FMR1-interacting protein NUFIP2; 82 kDa FMRP-interacting protein; 82-FIP; Cell proliferation-inducing gene 1 protein; FMRP-interacting protein 2; Nuclear FMR1-interacting protein 2", "protein_names_refseq": "82 kDa FMRP-interacting protein; 82-kD FMRP Interacting Protein; FMR1-interacting protein NUFIP2; FMRP-interacting protein 2; NUFIP2, FMR1 interacting protein 2; cell proliferation-inducing gene 1 protein; proliferation-inducing gene 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57532)", "pathway_count": 1, "publication_count": 114, "publication_id_list": "10.1101/2023.09.13.557529;12837692;15144186;15345747;16964243;17081983;17322306;17525332;17924679;18212344;18220336;18452278;18669648;18691976;18707149;18767875;19369195;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20230923;20305658;21406692;21740066;22645359;22661428;23186163;24129315;24275569;24366607;24715725;25418920;25576301;25645385;25755297;26154972;26184334;26375851;26929215;26992070;27114449;27600516;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29351928;29493099;29508533;29557506;29786170;30315122;30379171;30429286;30484775;30620550;31154438;31217245;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34171305;34185709;35051231;35132862;35138101;35254053;35318648;35580925;35705054;36010968;36215666;36240223;36241641;37217939;37541260;37938771;37949069;38665916;38838015;39302247;39531497;39534244;40307207;40596516", "class_list": "", "function": "Binds RNA., [UniProtKB, PubMed]; FMRP phosphorylation modulates neuronal translation through YTHDF1., [RefSeq, PubMed]; Identification and characterization of FIP-82, a novel FMRP-interacting protein associated to polyribosomes as a component of mRNP complexes containing FMRP, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 4, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "A1L3A6;A1L3A7;Q9P2M5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "Q7Z417-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JUK9-1", "uniprot_id": [ { "id": "PAGE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JUK9", "type": "external" } ], "mass": 12480.0, "length": 113, "protein_name": "P antigen family member 3", "gene_name": "PAGE3", "organism": "Human", "refseq_name": "P antigen family member 3", "refseq_ac": [ { "id": "NP_001017931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017931", "type": "external" } ], "gene_names_uniprotkb": "PAGE3; GAGED1", "gene_names_refseq": "CT16.6; GAGED1; PAGE-3; PAGE3", "protein_names_uniprotkb": "P antigen family member 3; G antigen family D member 1; PAGE-3; Prostate-associated gene 3 protein", "protein_names_refseq": "G antigen family D member 1; G antigen, family D, 1; P antigen family member 3; P antigen family, member 3 (prostate associated); prostate-associated gene 3 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:139793)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "This gene is a member of family of proteins that are expressed in a variety of tumors and in some fetal and reproductive tissues. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A5D6Y1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5JUK9-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15315-3", "uniprot_id": [ { "id": "RA51B_HUMAN", "url": "https://www.uniprot.org/uniprot/O15315", "type": "external" } ], "mass": 42196.0, "length": 384, "protein_name": "DNA repair protein RAD51 homolog 2", "gene_name": "RAD51B", "organism": "Human", "refseq_name": "DNA repair protein RAD51 homolog 2 isoform 10", "refseq_ac": [ { "id": "NP_001308746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308746", "type": "external" } ], "gene_names_uniprotkb": "RAD51B; RAD51L1; REC2", "gene_names_refseq": "R51H2; RAD51B; RAD51L1; REC2", "protein_names_uniprotkb": "DNA repair protein RAD51 homolog 2; R51H2; RAD51 homolog B; RAD51-like protein 1; Rad51B", "protein_names_refseq": "DNA repair protein RAD51 homolog 2 isoform 10; DNA repair protein RAD51 homolog 2; RAD51 homolog B; RecA-like protein; recombination repair protein", "tax_id": 9606, "disease": "uterine fibroid (Disease Ontology:DOID:13223)", "pathway": " (hsa:5890); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693616); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709603); (R-HSA-983231)", "pathway_count": 12, "publication_count": 143, "publication_id_list": "10373512;10570174;10733923;10801132;10856253;11006276;11042108;11062261;11242053;11459987;11744692;11751635;11751636;11832208;11842112;11842113;11895428;11950885;11978964;12032298;12134158;12228710;12427746;12441335;12649198;12686547;12721304;12912992;14527420;14704354;14716019;15020713;15247287;15359272;15665856;15703751;15710388;15916957;16054028;1630448;16337601;16793542;17027967;17114795;17196961;17200668;17200671;17200672;17289582;17420451;17996710;17996711;18317453;18957201;19074197;19268590;19293402;19330030;19369211;19584259;19596236;19609323;19657362;19941829;20207730;20530532;20627800;20729832;20729858;20729859;20871615;20871616;20965415;21520333;218813;21965664;22194698;22593209;22645308;23108668;23149936;23481700;23509288;23686288;23731732;23754376;23810717;24005041;24013206;24076221;24141787;24371268;24485656;24509834;24831703;26145171;26845023;27899578;28089683;28158555;28240985;28319063;29165669;29557506;29608566;30289697;30311374;30379171;31154438;31586400;31636395;31757951;31844290;31848261;32157095;32732220;32938616;32983136;33141586;33195396;33298915;33592498;33691108;33912179;33978741;3409321;34171305;34440403;34932366;35318648;35580925;8662638;8816476;9065479;9207106;9230307;9326583;9331217;9422515;9441753;9512535;9892177;9927674", "class_list": "", "function": "A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; BCR/ABL fragments were used for identifying the sites of BCR/ABL interaction with RAD51B, [RefSeq, PubMed]; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Rad51B and Rad51C function through interactions with the human Rad51 recombinase and play a crucial role in the homologous recombinational repair pathway, [RefSeq, PubMed]; The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [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": 1, "reported_glycation": 0, "reported_snv": 13, "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": "O60914;O75210;Q3Y4F8;Q6FHX8;Q86SY3;Q86SY4;Q86TR0;Q86U92;Q86U93;Q86U94;Q8N6H4;Q9UPL5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0003690 double-stranded DNA binding;GO:0003697 single-stranded DNA binding;GO:0008094 ATP-dependent activity, acting on DNA", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005657 replication fork;GO:0033063 Rad51B-Rad51C-Rad51D-XRCC2 complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0000724 double-strand break repair via homologous recombination;GO:0007131 reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "O15315-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03973-1", "uniprot_id": [ { "id": "SLPI_HUMAN", "url": "https://www.uniprot.org/uniprot/P03973", "type": "external" } ], "mass": 14326.0, "length": 132, "protein_name": "Antileukoproteinase", "gene_name": "SLPI", "organism": "Human", "refseq_name": "antileukoproteinase precursor", "refseq_ac": [ { "id": "NP_003055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003055", "type": "external" } ], "gene_names_uniprotkb": "SLPI; WAP4; WFDC4", "gene_names_refseq": "ALK1; ALP; BLPI; HUSI-1; HUSI-I; HUSI; MPI; SLPI; WAP4; WFDC4", "protein_names_uniprotkb": "Antileukoproteinase; ALP; BLPI; HUSI-1; MPI; Mucus proteinase inhibitor; Protease inhibitor WAP4; Secretory leukocyte protease inhibitor; Seminal proteinase inhibitor; WAP four-disulfide core domain protein 4", "protein_names_refseq": "WAP four-disulfide core domain protein 4; antileukoproteinase precursor; mucus proteinase inhibitor; protease inhibitor WAP4; secretory leukocyte protease inhibitor (antileukoproteinase); seminal proteinase inhibitor", "tax_id": 9606, "disease": "polycystic ovary syndrome (Disease Ontology:DOID:11612); severe acute respiratory syndrome (Disease Ontology:DOID:2945); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); middle cerebral artery infarction (Disease Ontology:DOID:3525); endophthalmitis (Disease Ontology:DOID:4692); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:6590); (R-HSA-6798695); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 4, "publication_count": 22, "publication_id_list": "10702419;12526812;1525165;16336202;18421166;2039600;2110563;23650620;24121345;24352879;25946035;33392160;3366116;3462719;3485543;3533531;36241641;3640338;38939941;38969699;8692836;9593692", "class_list": "", "function": "Acid-stable proteinase inhibitor with strong affinities for trypsin, chymotrypsin, elastase, and cathepsin G (PubMed:10702419, PubMed:2039600, PubMed:2110563, PubMed:24121345, PubMed:3462719, PubMed:3533531). Modulates the inflammatory and immune responses after bacterial infection, and after infection by the intracellular parasite L.major. Down-regulates responses to bacterial lipopolysaccharide (LPS) (By similarity). Plays a role in regulating the activation of NF-kappa-B and inflammatory responses (PubMed:10702419, PubMed:24352879). Has antimicrobial activity against mycobacteria, but not against salmonella. Contributes to normal resistance against infection by M.tuberculosis. Required for normal resistance to infection by L.major. Required for normal wound healing, probably by preventing tissue damage by limiting protease activity (By similarity). Together with ELANE, required for normal differentiation and proliferation of bone marrow myeloid cells (PubMed:24352879)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SLPI has antiprotease activity and antimicrobial activity against bacteria and fungi. SLPI is an important molecule in the functioning of the innate immune system. Review article, [RefSeq, PubMed]; SLPI overexpression in hMSCs could be implicated in the HSC gene expression profile in AML. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]., [RefSeq]; [The role and mechanism of multifunctional molecule SLPI in regulating ischemia-reperfusion induced acute kidney injury and repair]. 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": 9, "reported_glycation": 0, "reported_snv": 0, "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": "B2R5H8;P07757", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003729 mRNA binding;GO:0004867 serine-type endopeptidase inhibitor activity;GO:0019899 enzyme binding;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0035580 specific granule lumen", "go_biological_process": "GO:0006955 immune response;GO:0019731 antibacterial humoral response;GO:0032496 response to lipopolysaccharide;GO:0045087 innate immune response;GO:0032091 negative regulation of protein binding", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P03973-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75529-1", "uniprot_id": [ { "id": "TAF5L_HUMAN", "url": "https://www.uniprot.org/uniprot/O75529", "type": "external" } ], "mass": 66155.0, "length": 589, "protein_name": "TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L", "gene_name": "TAF5L", "organism": "Human", "refseq_name": "TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform b", "refseq_ac": [ { "id": "NP_001020418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020418", "type": "external" } ], "gene_names_uniprotkb": "TAF5L; PAF65B", "gene_names_refseq": "PAF65B; TAF5L", "protein_names_uniprotkb": "TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L; PAF65-beta; PCAF-associated factor 65 beta; TAF5L", "protein_names_refseq": "PAF65-beta; PCAF-associated factor 65 beta; TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L isoform b; TAF5-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 5L; TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:27097); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10.1101/2023.09.13.557529;10786633;10821277;11124703;11237011;11564863;12601814;15313887;16387653;18381289;18623064;19187765;20018852;22645359;23481700;24715725;25576301;26992070;28218747;28832583;28855257;28904123;29437277;29493099;29557506;29786170;30315122;30379171;30779550;31844290;32157095;32161166;32357974;32387766;32897882;32983136;33298915;33633747;33912179;33936100;33981976;34171305;34185709;35051231;35580925;36241641;9427644;9558366;9674419;9674425;9880483", "class_list": "", "function": "Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF6L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state (By similarity)., [UniProtKB, UniProtKB, PubMed]; The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different 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": 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": 22, "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": "Q5TDI5;Q5TDI6;Q8IW31", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0033276 transcription factor TFTC complex;GO:0005634 nucleus;GO:0016607 nuclear speck;GO:0000124 SAGA complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O75529-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TM6-1", "uniprot_id": [ { "id": "SYVN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TM6", "type": "external" } ], "mass": 67685.0, "length": 617, "protein_name": "E3 ubiquitin-protein ligase synoviolin", "gene_name": "SYVN1", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase synoviolin isoform a", "refseq_ac": [ { "id": "NP_115807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115807", "type": "external" } ], "gene_names_uniprotkb": "SYVN1; HRD1; KIAA1810", "gene_names_refseq": "DER3; HRD1; SYVN1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase synoviolin; 2.3.2.27; RING-type E3 ubiquitin transferase synoviolin; Synovial apoptosis inhibitor 1", "protein_names_refseq": "E3 ubiquitin-protein ligase synoviolin isoform a; E3 ubiquitin-protein ligase synoviolin; HMG-coA reductase degradation 1 homolog; RING-type E3 ubiquitin transferase synoviolin; synovial apoptosis inhibitor 1, synoviolin", "tax_id": 9606, "disease": "alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:84447); (R-HSA-381038); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-901032)", "pathway_count": 5, "publication_count": 165, "publication_id_list": "10409699;10601334;10694380;10827079;10984056;11237011;11486055;12204115;12459480;12646171;12913004;12975321;14593114;15075292;15163793;15292211;15466936;15713668;16186509;16186510;16282375;16289116;16335952;16431915;16461360;16539657;16611729;16847254;17059562;17126548;17141218;17170702;17507410;17924679;18003979;18264092;18417469;18426978;18502753;18534984;18656546;18664523;18669648;18691976;18711132;19002207;19007248;19081070;19084021;19346256;19603532;20068231;20104595;20585641;21257310;21282569;21357747;21636303;22607976;23112049;23186163;23232094;23481700;23719536;23867461;24366607;24715725;24784881;25092655;25418920;25502872;25505266;25576301;25880248;25892735;26154972;26375851;26471130;26811146;26992070;27397612;27827840;27920218;28218747;28228285;28314751;28514659;28827405;28832583;28834231;28842558;28904123;29242379;29437277;29485866;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30345569;30410026;30429286;30484775;30779550;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34405274;34509645;34725712;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;37943610;38226624;38378757;38665916;39226359;39455574;40593878;7590364;7885476;7985023;8666242;8689684;8824192;8896571;9037597;9450183;9473480;9593755", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation (PubMed:12459480, PubMed:12646171, PubMed:12975321, PubMed:14593114, PubMed:16289116, PubMed:16847254, PubMed:17059562, PubMed:17141218, PubMed:17170702, PubMed:22607976, PubMed:27827840, PubMed:26471130, PubMed:28827405). Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:12459480, PubMed:12646171, PubMed:12975321, PubMed:14593114, PubMed:16289116, PubMed:16847254, PubMed:17059562, PubMed:17141218, PubMed:17170702, PubMed:22607976, PubMed:26471130, PubMed:28842558). Also promotes the degradation of normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their degradation (PubMed:17141218). Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its biological function in transcription, cell cycle regulation and apoptosis (PubMed:17170702). Mediates the ubiquitination and subsequent degradation of cytoplasmic NFE2L1 (By similarity). During the early stage of B cell development, required for degradation of the pre-B cell receptor (pre-BCR) complex, hence supporting further differentiation into mature B cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ER-associated degradation ligase HRD1 links ER stress to DNA damage repair by modulating the activity of DNA-PKcs., [RefSeq, PubMed]; Endogenous hHrd1 resides in the ER and has a ubiquitin-ligase activity, [RefSeq, PubMed]; HRD1 protects against endoplasmic reticulum stress-induced apoptosis through endoplasmic reticulum-associated degradation., [RefSeq, PubMed]; HRD1-induced TMEM2 ubiquitination promotes ER stress-mediated apoptosis through a non-canonical pathway in intestinal ischemia/reperfusion. Publication Status: Online-Only, [RefSeq, PubMed]; Human HRD1 is an E3 ubiquitin ligase involved in degradation of proteins from the endoplasmic reticulum, [RefSeq, PubMed]; Hypomorphic human SEL1L and HRD1 variants uncouple multilayered ER-associated degradation machinery. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of hepatic inclusions and fibrinogen biogenesis by SEL1L-HRD1 ERAD. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 10, "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": "Q8N3K3;Q8N6E8;Q96JL5;Q96PK3", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0051117 ATPase binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005790 smooth endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002327 immature B cell differentiation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0050821 protein stabilization;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q86TM6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVT8-1", "uniprot_id": [ { "id": "TMUB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVT8", "type": "external" } ], "mass": 26261.0, "length": 246, "protein_name": "Transmembrane and ubiquitin-like domain-containing protein 1", "gene_name": "TMUB1", "organism": "Human", "refseq_name": "transmembrane and ubiquitin-like domain-containing protein 1", "refseq_ac": [ { "id": "NP_001129516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129516", "type": "external" } ], "gene_names_uniprotkb": "TMUB1; C7orf21; DULP; HOPS; PRO1555; SB144", "gene_names_refseq": "C7orf21; DULP; HOPS; SB144; TMUB1", "protein_names_uniprotkb": "Transmembrane and ubiquitin-like domain-containing protein 1; DULP; Dendritic cell-derived ubiquitin-like protein; Hepatocyte odd protein shuttling protein; Ubiquitin-like protein SB144", "protein_names_refseq": "dendritic cell-derived ubiquitin-like protein; hepatocyte odd protein shuttling protein; transmembrane and ubiquitin-like domain-containing protein 1; ubiquitin-like protein DULP; ubiquitin-like protein SB144", "tax_id": 9606, "disease": "", "pathway": " (hsa:83590)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;12975309;16014383;18669648;18691976;19254477;20068231;21343306;23186163;23481700;23584533;24190977;24240191;25576301;27846572;27920218;28832583;28904123;29242379;29557506;29769354;29786170;30429286;30459171;31530632;31611695;31844290;31998317;32157095;32502341;32938616;32938750;32983136;33298915;33392160;33592498;33633747;35051231;35251023;35928927;36284347;36376293;37249279;37938771;38025742;40307207", "class_list": "", "function": "A novel ubiquitin-like molecule DULP from human dendritic cells was identified., [RefSeq, PubMed]; Inhibition of TMUB1 blocks apoptosis and NF-kappaB pathway-mediated inflammation in recurrent spontaneous abortion., [RefSeq, PubMed]; Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as a negative regulator of hepatocyte growth during regeneration (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR. Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface. Acts as a negative regulator of hepatocyte growth during regeneration., [UniProtKB, UniProtKB]; May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Promoting anti-tumor immunity by targeting TMUB1 to modulate PD-L1 polyubiquitination and glycosylation. Erratum:[Nat Commun. 2024 Dec 10;15(1):10663. doi: 10.1038/s41467-024-55049-5. PMID: 39658552] Publication Status: Online-Only, [RefSeq, PubMed]; TMUB1 Correlated with Immune Infiltration Is a Prognostic Marker for Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TMUB1 expression is associated with the prognosis of colon cancer and immune cell infiltration. 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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DX06;Q53AQ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus;GO:0005813 centrosome;GO:0045211 postsynaptic membrane;GO:0055037 recycling endosome;GO:0005634 nucleus", "go_biological_process": "GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9BVT8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZYL4-1", "uniprot_id": [ { "id": "TF2H5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZYL4", "type": "external" } ], "mass": 8053.0, "length": 71, "protein_name": "General transcription factor IIH subunit 5", "gene_name": "GTF2H5", "organism": "Human", "refseq_name": "general transcription factor IIH subunit 5", "refseq_ac": [ { "id": "NP_997001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997001", "type": "external" } ], "gene_names_uniprotkb": "GTF2H5; C6orf175; TTDA", "gene_names_refseq": "C6orf175; GTF2H5; TFB5; TFIIH; TGF2H5; TTD-A; TTD3; TTDA; TTD; bA120J8.2", "protein_names_uniprotkb": "General transcription factor IIH subunit 5; General transcription factor IIH polypeptide 5; TFB5 ortholog; TFIIH basal transcription factor complex TTD-A subunit; TFIIH subunit p8", "protein_names_refseq": "TFB5 ortholog; TFIIH basal transcription factor complex TTD-A subunit; TFIIH basal transcription factor complex TTDA subunit; TFIIH subunit p8; general transcription factor IIH subunit 5; general transcription factor IIH, polypeptide 5", "tax_id": 9606, "disease": "trichothiodystrophy (Disease Ontology:DOID:0111866); photosensitive trichothiodystrophy 3 (Disease Ontology:DOID:0111871)", "pathway": " (hsa:404672); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167246); (R-HSA-427413); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-72086); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73863); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075)", "pathway_count": 30, "publication_count": 213, "publication_id_list": "10024882;10082553;10199401;10471499;10526214;10723029;10734143;10757782;10866664;10913176;10916156;10944529;10984493;11007478;11141066;11237011;11250901;11278856;11313498;11313499;11350971;11433015;11486021;11511374;11739720;11784853;11859374;11884399;11904382;11971958;11988847;12080057;12208738;12370301;12393749;12646563;12653964;12660172;12676794;12732143;1310361;14517266;14610093;14701750;14969726;15220921;1547496;15489290;15590680;15781865;15989964;16030353;16246722;16427011;16491090;16669699;16751180;17000769;17234882;17290000;17318177;17355984;17466625;17466626;17499042;17525332;17948053;17981804;18079701;18157150;18614043;19056823;19279666;1939271;19661379;19713942;19729311;19838300;19940136;19941815;19941824;19952111;20159561;20227374;20368362;20541997;20876134;21070792;21282463;22012619;22081108;22118460;22466610;22466611;22466612;22805593;22902626;22982363;22988298;23038248;23045548;23352696;23481700;23538671;23751493;23906714;23973375;24127601;24354960;24402227;2449431;24554720;24662513;24714562;24715725;25154395;25429106;25435140;25538220;25561469;25645385;25712099;25916849;26042670;26151477;26154972;26375851;26659056;27193682;27418187;27418309;27920218;2805069;28218747;28228285;28297668;28832583;28904123;29242379;29437277;29508533;29557506;29786170;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31253769;31844290;31848261;31937595;32157095;32161166;32355176;32387766;32488085;32502341;32540359;32938616;32983136;33141586;33298915;33392160;33902107;33968037;34087483;34171305;34211107;34509645;35051231;36010968;36215666;36241641;7151173;7491500;7559382;7597036;7601352;7660122;7660129;7660130;7700386;7801123;7853496;8078911;8156590;8330735;8370526;8465201;8490964;8692841;8876179;8946909;9063748;9130708;9256425;9326587;9353262;9405375;9450929;9489704;9512541;9582279;9699634;9716411;9765293;9771713;9790902;9857195;9875289", "class_list": "", "function": "Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell., [UniProtKB, PubMed, PubMed]; P8/TTD-A, the tenth subunit of TFIIH, has a critical role in DNA repair where it triggers DNA opening by stimulating XPB ATPase activity together with the damage recognition factor XPC-hHR23B., [RefSeq, PubMed]; TTDA inhibited apoptosis by regulating the p53-Bax/Bcl2 axis in glioma., [RefSeq, PubMed]; TTDA is the first Transcription Factor IIH subunit with a primarily nucleotide excision repair-dedicated role in vivo., [RefSeq, PubMed]; This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0P5V8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005675 transcription factor TFIIH holo complex;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006294 nucleotide-excision repair, preincision complex assembly;GO:0006289 nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q6ZYL4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXQ9-1", "uniprot_id": [ { "id": "ETKMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXQ9", "type": "external" } ], "mass": 29461.0, "length": 262, "protein_name": "Electron transfer flavoprotein beta subunit lysine methyltransferase", "gene_name": "ETFBKMT", "organism": "Human", "refseq_name": "electron transfer flavoprotein beta subunit lysine methyltransferase", "refseq_ac": [ { "id": "NP_001129335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129335", "type": "external" } ], "gene_names_uniprotkb": "ETFBKMT; C12orf72; METTL20", "gene_names_refseq": "C12orf72; ETFB-KMT; ETFBKMT; METTL20", "protein_names_uniprotkb": "Electron transfer flavoprotein beta subunit lysine methyltransferase; 2.1.1.-; ETFB lysine methyltransferase; ETFB-KMT; Protein N-lysine methyltransferase METTL20", "protein_names_refseq": "ETFB lysine methyltransferase; electron transfer flavoprotein beta subunit lysine methyltransferase; methyltransferase like 20; methyltransferase-like protein 20; protein N-lysine methyltransferase METTL20", "tax_id": 9606, "disease": "", "pathway": " (hsa:254013); (R-HSA-8876725)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11237011;16118227;22948820;23349634;25023281;25144183;25231979;25416781;26545399;28228285;29352221;30379171;31844290", "class_list": "", "function": "Human METTL20 is a mitochondrial lysine methyltransferase that targets ETFbeta and modulates its activity., [RefSeq, PubMed]; Protein-lysine methyltransferase that selectively trimethylates the flavoprotein ETFB in mitochondria (PubMed:25023281, PubMed:25416781). Thereby, may negatively regulate the function of ETFB in electron transfer from Acyl-CoA dehydrogenases to the main respiratory chain (PubMed:25416781)., [UniProtKB, PubMed, PubMed]; Tagged METTL20 expressed in HEK293T cells specifically associates with the ETF and promotes the trimethylation of ETFbeta lysine residues 199 and 202, [RefSeq, PubMed]; The METTL20 protein is here suggested to be a protein methyltransferase, as it is shown to belong to a family of 10 human methyltransferases, some of which are shown to have lysine specific protein methyltransferase activity., [RefSeq, PubMed]; These results further indicate that METTL20-mediated protein methylation is not essential in humans but more likely modulates energy production during fasting or under other metabolic conditions where beta-oxidation is up-regulated. 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": 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": "D3DUW3", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.372", "type": "external" } ], "go_molecular_function": "GO:0031072 heat shock protein binding;GO:0016279 protein-lysine N-methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0032991 protein-containing complex", "go_biological_process": "GO:1904736 negative regulation of fatty acid beta-oxidation using acyl-CoA dehydrogenase;GO:0006479 protein methylation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8IXQ9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWS8-1", "uniprot_id": [ { "id": "RMND1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWS8", "type": "external" } ], "mass": 51604.0, "length": 449, "protein_name": "Required for meiotic nuclear division protein 1 homolog", "gene_name": "RMND1", "organism": "Human", "refseq_name": "required for meiotic nuclear division protein 1 homolog isoform 1", "refseq_ac": [ { "id": "NP_060379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060379", "type": "external" } ], "gene_names_uniprotkb": "RMND1; C6orf96", "gene_names_refseq": "C6orf96; COXPD11; RMD1; RMND1; bA351K16.3; bA351K16", "protein_names_uniprotkb": "Required for meiotic nuclear division protein 1 homolog", "protein_names_refseq": "required for meiotic nuclear division protein 1 homolog isoform 1; required for meiotic nuclear division protein 1 homolog", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 11 (Disease Ontology:DOID:0111481)", "pathway": " (hsa:55005)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;20877624;23022098;23022099;23481700;25604853;26238252;26992070;27846572;27920218;28228285;29242379;29557506;30315122;30379171;30484775;31844290;32911714;33141586;33298915;34087483;34171305;35051231;36010968;36215666;36241641;37450011;40596516", "class_list": "", "function": "Hyporeninemic hypoaldosteronism in RMND1-related mitochondrial disease., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853)., [UniProtKB, PubMed, PubMed]; Results demonstrate that the RMND1 complex is necessary for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome., [RefSeq, PubMed]; The RMND1 mutation caused haploinsufficiency that was rescued by overexpression of the wild-type transcript in mutant fibroblasts; this overexpression increased the levels and activities of mitochondrial respiratory-chain proteins., [RefSeq, PubMed]; The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]; Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement. 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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8H4;Q0VDG6;Q5SZ48;Q5SZ83;Q6NSC5;Q96EN7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0006412 translation;GO:0070131 positive regulation of mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9NWS8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08637-1", "uniprot_id": [ { "id": "FCG3A_HUMAN", "url": "https://www.uniprot.org/uniprot/P08637", "type": "external" } ], "mass": 29089.0, "length": 254, "protein_name": "Low affinity immunoglobulin gamma Fc region receptor III-A", "gene_name": "FCGR3A", "organism": "Human", "refseq_name": "low affinity immunoglobulin gamma Fc region receptor III-A isoform b", "refseq_ac": [ { "id": "NP_001121064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121064", "type": "external" } ], "gene_names_uniprotkb": "FCGR3A; CD16A; FCG3; FCGR3; IGFR3", "gene_names_refseq": "CD16-II; CD16A; FCG3; FCGR3A; FCGR3; FCRIIIA; FcGRIIIA; IGFR3; IMD20", "protein_names_uniprotkb": "Low affinity immunoglobulin gamma Fc region receptor III-A; CD16-II; CD16a antigen; Fc-gamma RIII-alpha; Fc-gamma RIIIa; Fc-gamma RIII; FcR-10; FcRIIIa; FcRIII; FcgammaRIIIA; IgG Fc receptor III-2; IgG Fc receptor III-A", "protein_names_refseq": "CD16a antigen; Fc fragment of IgG receptor IIIa; Fc fragment of IgG, low affinity IIIa, receptor (CD16a); Fc gamma receptor III-A; Fc-gamma RIII-alpha; Fc-gamma receptor IIIb (CD16); FcgammaRIIIA; IgG Fc receptor III-A; igG Fc receptor III-2; immunoglobulin G Fc receptor III; low affinity immunoglobulin gamma Fc region receptor III-A isoform b; low affinity immunoglobulin gamma Fc region receptor III-A; low affinity immunoglobulin gamma receptor III-a Fc fragment; neutrophil-specific antigen NA", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); lymphoplasmacytic lymphoma (Disease Ontology:DOID:0060901); retinitis pigmentosa 96 (Disease Ontology:DOID:0061104); lupus nephritis (Disease Ontology:DOID:0080162); graft-versus-host disease (Disease Ontology:DOID:0081267); retinitis pigmentosa 47 (Disease Ontology:DOID:0110369); Oguchi disease-1 (Disease Ontology:DOID:0110712); immunodeficiency 20 (Disease Ontology:DOID:0111941); lymphoid leukemia (Disease Ontology:DOID:1037); allergic disease (Disease Ontology:DOID:1205); Behcet's disease (Disease Ontology:DOID:13241); temporal arteritis (Disease Ontology:DOID:13375); polyneuropathy (Disease Ontology:DOID:1389); thrombocytopenia due to platelet alloimmunization (Disease Ontology:DOID:1587); epilepsy (Disease Ontology:DOID:1826); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); IgA glomerulonephritis (Disease Ontology:DOID:2986); coronary artery disease (Disease Ontology:DOID:3393); allergic rhinitis (Disease Ontology:DOID:4481); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); lymphopenia (Disease Ontology:DOID:614); myositis (Disease Ontology:DOID:633); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); arthritis (Disease Ontology:DOID:848); hereditary night blindness (Disease Ontology:DOID:8498); Crohn's disease (Disease Ontology:DOID:8778); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:2214); (R-HSA-198933); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-9664323); (R-HSA-9664422)", "pathway_count": 7, "publication_count": 226, "publication_id_list": "10219243;10224668;10318937;10496324;10499918;10559936;10579907;10724160;10746781;10781580;10861086;10878810;10995437;11157975;11231582;11237011;11265639;11276226;11278486;11329366;11340081;11425868;11489943;11513152;11553796;11556966;11711607;11747816;11749377;11804587;11807247;11829459;11854399;11857637;11858820;11861603;11955593;11955595;11955599;12055636;12105426;12117970;12189515;12213210;12213321;12235133;12417718;12483297;12588680;12660731;12743368;12869549;1314888;1372004;14676198;14719373;14970179;15034010;15040784;15136729;15155468;15161916;15187158;15294978;15304001;15452139;15534202;15536084;15541655;15580655;15607800;15657136;15778510;15781451;15800062;15809313;15851719;15864273;15879134;16014749;16091383;16129954;16262445;16339513;16380601;16497229;16546099;16551255;16641196;16678913;16702231;16737824;16754721;16880808;16893496;16904340;16921024;16928187;16951347;17045824;17057721;17188549;17202194;17237375;17308335;17337780;17590538;18031695;18037897;18055229;18070890;18209062;18234675;1825220;18391171;18593354;18818202;19149696;19359216;19592130;19741094;19955216;20730098;21037092;21241660;21419341;21768335;21800138;21841309;21877119;22023369;22396535;23006327;23024279;23675550;23695528;23929856;24305946;24337742;24412922;2474607;2525780;2526846;2529342;2532305;25345863;25703557;25716998;25786175;25816339;26154972;26284469;26300885;27397612;27670158;28126818;28566370;28652325;29557506;29967280;30061887;30786043;31154438;31244843;31467031;31848261;32157095;32983136;34485821;35051231;35580925;36284347;37421619;37461339;37669308;37938771;38422319;39175948;39209371;7512959;7516890;7517665;7521687;7522622;7530449;7531291;7542404;7700021;7718892;7836402;7848918;8178173;8226994;8228618;8327478;8340414;8541526;8608639;8609432;8611682;8657103;8809042;8862523;8874200;8986718;8995416;9000504;9042338;9050880;9162098;9242542;9276722;9285412;9314552;9314561;9600938;9700512;9705280;9730896;9799231;9843499;9857068;9883880;9885284;9916693;9973503", "class_list": "", "function": "(Microbial infection) Involved in Dengue virus pathogenesis via antibody-dependent enhancement (ADE) mechanism. Secondary infection with Dengue virus triggers elevated levels of afucosylated non-neutralizing IgG1s with reactivity to viral envelope/E protein. Viral antigen-IgG1 complexes bind with high affinity to FCGR3A, facilitating virus entry in myeloid cells and subsequent viral replication., [UniProtKB, PubMed]; Association of NK cell subsets and cytotoxicity with FCGR3A gene polymorphism in functional NK cell deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; FCGR3A F158V alleles frequency differs in multiple myeloma patients from healthy population. Publication Status: Online-Only, [RefSeq, PubMed]; Fcgamma-receptor-IIIA bioactivity of circulating and synovial immune complexes in rheumatoid arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of HLA Class I Antigen, Killer Inhibitory Receptor, and FCGR3A Genotypes on Breast Cancer Susceptibility and Tumor Stage., [RefSeq, PubMed]; Multiplex interrogation of the NK cell signalome reveals global downregulation of CD16 signaling during lentivirus infection through an IL-18/ADAM17-dependent mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the invariable Fc fragment of immunoglobulin gamma (IgG). Optimally activated upon binding of clustered antigen-IgG complexes displayed on cell surfaces, triggers lysis of antibody-coated cells, a process known as antibody-dependent cellular cytotoxicity (ADCC). Does not bind free monomeric IgG, thus avoiding inappropriate effector cell activation in the absence of antigenic trigger (PubMed:11711607, PubMed:21768335, PubMed:22023369, PubMed:24412922, PubMed:25786175, PubMed:25816339, PubMed:28652325, PubMed:8609432, PubMed:9242542). Mediates IgG effector functions on natural killer (NK) cells. Binds antigen-IgG complexes generated upon infection and triggers NK cell-dependent cytokine production and degranulation to limit viral load and propagation. Involved in the generation of memory-like adaptive NK cells capable to produce high amounts of IFNG and to efficiently eliminate virus-infected cells via ADCC (PubMed:24412922, PubMed:25786175). Regulates NK cell survival and proliferation, in particular by preventing NK cell progenitor apoptosis (PubMed:29967280, PubMed:9916693). Following the engagement of antigen-IgG complexes, triggers phosphorylation of immunoreceptor tyrosine-based activation motif (ITAM)-containing adapters with subsequent activation of phosphatidylinositol 3-kinase signaling and sustained elevation of intracellular calcium that ultimately drive NK cell activation. The ITAM-dependent signaling coupled to receptor phosphorylation by PKC mediates robust intracellular calcium flux that leads to production of pro-inflammatory cytokines, whereas in the absence of receptor phosphorylation it mainly activates phosphatidylinositol 3-kinase signaling leading to cell degranulation (PubMed:1825220, PubMed:23024279, PubMed:2532305). Costimulates NK cells and trigger lysis of target cells independently of IgG binding (PubMed:10318937, PubMed:23006327). Mediates the antitumor activities of therapeutic antibodies. Upon ligation on monocytes triggers TNFA-dependent ADCC of IgG-coated tumor cells (PubMed:27670158). Mediates enhanced opsonization and ADCC in response to afucosylated IgGs (PubMed:34485821, PubMed:28566370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of ADAM17 as a regulatory checkpoint of CD16A in NK cells and as a potential target for cancer immunotherapy. Review article, [RefSeq, PubMed]; This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms 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": 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": 14, "reported_phosphosites": 2, "reported_mutagensis": 27, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 103, "disease_count": 32, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A2N6W9;Q53FJ0;Q53FL6;Q5EBR4;Q65ZM6;Q6PIJ0", "ec_number_list": [], "go_molecular_function": "GO:0019864 IgG binding;GO:0019770 IgG receptor activity;GO:0019772 low-affinity IgG receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0033001 Fc-gamma receptor III complex", "go_biological_process": "GO:0038094 Fc-gamma receptor signaling pathway;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0019722 calcium-mediated signaling;GO:0032760 positive regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 33.6, "record_id": "P08637-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30273-1", "uniprot_id": [ { "id": "FCERG_HUMAN", "url": "https://www.uniprot.org/uniprot/P30273", "type": "external" } ], "mass": 9667.0, "length": 86, "protein_name": "High affinity immunoglobulin epsilon receptor subunit gamma", "gene_name": "FCER1G", "organism": "Human", "refseq_name": "high affinity immunoglobulin epsilon receptor subunit gamma precursor", "refseq_ac": [ { "id": "NP_004097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004097", "type": "external" } ], "gene_names_uniprotkb": "FCER1G", "gene_names_refseq": "FCER1G; FCRG", "protein_names_uniprotkb": "High affinity immunoglobulin epsilon receptor subunit gamma; Fc receptor gamma-chain; Fc-epsilon RI-gamma; FcRgamma; FceRI gamma; IgE Fc receptor subunit gamma", "protein_names_refseq": "Fc fragment of IgE receptor Ig; Fc fragment of IgE, high affinity I, receptor for; Fc receptor gamma-chain; FcepsilonRI gamma chain; FcepsilonRIgamma; fc-epsilon RI-gamma; fcRgamma; fceRI gamma; gamma polypeptide; high affinity immunoglobulin epsilon receptor subunit gamma precursor; high affinity immunoglobulin epsilon receptor subunit gamma; immunoglobulin E receptor, high affinity, gamma chain", "tax_id": 9606, "disease": "", "pathway": " (hsa:2207); (R-HSA-114604); (R-HSA-202733); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5621480); (R-HSA-6798695); (R-HSA-75892)", "pathway_count": 11, "publication_count": 229, "publication_id_list": "10026222;10068651;10072481;10395673;10469124;10523831;10606205;10702308;10764623;10838074;10860980;10882101;10917520;11007481;11015619;11030334;11090634;11110698;11207550;11237011;11256994;11262396;11278486;11306453;11325957;11340169;11368773;11395409;11460167;11481033;11564780;11606584;11713268;11772397;11779189;11804587;11812992;11943772;12070135;12208882;12217391;12469115;12473184;12573241;12660731;12670394;12670955;12782713;12813055;12832405;12975316;14514672;14529530;14615387;14630197;14656219;15000751;15010370;15125833;15327770;15528364;15548136;15681301;15686303;15708849;15721307;1591491;16102042;16174766;16186825;16252004;16258728;16297198;16356853;16356856;16456001;16585556;16691243;16737840;16783819;16831874;16938345;16978534;17047224;17050534;17064312;17099249;17116209;17135271;17158449;17167768;17172599;17322099;17379836;17428801;17442946;17452516;17496917;17498065;17502104;17505016;17525755;17540168;17563375;17580308;17600130;17615384;17616532;17625065;17948050;17993265;18083107;18088087;18296442;18490740;18589439;1874735;18772140;18776906;18818202;18955485;19124833;19279206;1939645;19409513;19574218;19592646;19700402;19850008;19909365;20058876;20166139;20300203;20685844;21193412;2138619;21653832;21659548;21880719;21966355;22041900;22267732;22798961;23053572;23507963;23602766;23650620;23945545;24043627;24275569;24764293;25200415;2538457;26311901;27630214;2833705;2841328;28652325;28736554;29485866;29557506;30429286;31154438;31439947;31848261;32157095;32983136;33043033;35051231;35078433;35580925;36054819;36066491;37170758;37821074;3872140;468991;7509040;7518558;7521878;7526393;7528327;7624799;7855889;7997270;8071371;8163559;8166770;8246984;8314844;8493579;8598452;8611682;8617742;8629002;8630736;8631904;8639781;8663278;8673706;8692836;8702662;8799126;8810294;8910399;8972730;8986718;8990121;8995445;9028946;9042338;9052782;9099726;9169774;9199344;9242610;9280292;9295288;9295361;9331419;9382878;9438848;9477973;9639556;9693095;9763524;9768361;9895304;9989831", "class_list": "", "function": "Adapter protein containing an immunoreceptor tyrosine-based activation motif (ITAM) that transduces activation signals from various immunoreceptors. As a component of the high-affinity immunoglobulin E (IgE) receptor, mediates allergic inflammatory signaling in mast cells. As a constitutive component of interleukin-3 receptor complex, selectively mediates interleukin 4/IL4 production by basophils, priming T-cells toward effector T-helper 2 subset. Associates with pattern recognition receptors CLEC4D and CLEC4E to form a functional signaling complex in myeloid cells. Binding of mycobacterial trehalose 6,6'-dimycolate (TDM) to this receptor complex leads to phosphorylation of ITAM, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. May function cooperatively with other activating receptors. Functionally linked to integrin beta-2/ITGB2-mediated neutrophil activation. Also involved in integrin alpha-2/ITGA2-mediated platelet activation., [UniProtKB, UniProtKB]; Diminished cell proliferation promotes natural killer cell adaptive-like phenotype by limiting FcepsilonRIgamma expression., [RefSeq, PubMed]; Fc Fragment of IgE Receptor Ig (FCER1G) acts as a key gene involved in cancer immune infiltration and tumour microenvironment., [RefSeq, PubMed]; Identification of FCER1G as a cyclosporin A plus corticosteroid sensitization gene in female patients with Vogt-Koyanagi-Harada disease., [RefSeq, PubMed]; Identification of FCER1G as a key gene in multiple myeloma based on weighted gene co-expression network analysis., [RefSeq, PubMed]; The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of SPI1-TYROBP-FCER1G network in oncogenesis and prognosis of osteosarcoma, and its association with immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q5VTW4", "ec_number_list": [], "go_molecular_function": "GO:0019767 IgE receptor activity;GO:0019863 IgE binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0019864 IgG binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070821 tertiary granule membrane;GO:0009897 external side of plasma membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0002292 T cell differentiation involved in immune response;GO:0038094 Fc-gamma receptor signaling pathway;GO:0002283 neutrophil activation involved in immune response;GO:0002431 Fc receptor mediated stimulatory signaling pathway;GO:0002554 serotonin secretion by platelet", "synthesized_glycan_count": 0, "hit_score": 23.2, "record_id": "P30273-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46821-1", "uniprot_id": [ { "id": "MAP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P46821", "type": "external" } ], "mass": 270634.0, "length": 2468, "protein_name": "Microtubule-associated protein 1B", "gene_name": "MAP1B", "organism": "Human", "refseq_name": "microtubule-associated protein 1B isoform 1", "refseq_ac": [ { "id": "NP_005900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005900", "type": "external" } ], "gene_names_uniprotkb": "MAP1B", "gene_names_refseq": "DFNA83; FUTSCH; MAP1B; MAP5; PPP1R102; PVNH9", "protein_names_uniprotkb": "Microtubule-associated protein 1B; MAP-1B", "protein_names_refseq": "microtubule-associated protein 1B isoform 1; protein phosphatase 1, regulatory subunit 102", "tax_id": 9606, "disease": "periventricular nodular heterotopia (Disease Ontology:DOID:0050454); periventricular nodular heterotopia 9 (Disease Ontology:DOID:0061246); autosomal dominant nonsyndromic deafness 83 (Disease Ontology:DOID:0070609); hypothyroidism (Disease Ontology:DOID:1459)", "pathway": " (hsa:4131); (R-HSA-9833110)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "11237011;11607032;12147674;12684070;14976261;15345747;15525354;16212419;16227972;16959974;17081983;17287340;17487921;17525332;18077418;18088087;18195017;18212344;18318008;18419581;18420935;18452278;18491316;18510355;18578522;18669648;18707149;19369195;19413330;19415658;19549690;19562805;19651622;19664994;19664995;20058876;20068231;20166139;20410276;21406692;22028470;22090124;23186163;23301498;24089205;24275569;25367160;25576301;25854864;25880248;25902260;26154972;26375851;26811146;26853435;26992070;27543614;27600516;27846572;27862975;28218747;28228285;28657654;28832583;28834231;28904123;29242379;29314611;29331515;29437277;29508533;29557506;29738522;29786170;29789417;30150678;30315122;30379171;30429286;31154438;31317654;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33268592;33298915;33392160;33592498;33772511;33839256;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34725712;34932366;35008409;35051231;35254053;35318648;35580925;36102648;36241641;36284347;37217939;37365192;37938771;38353696;38665916;39302247;39531497;7806212", "class_list": "", "function": "A MAP1B-cortactin-Tks5 axis regulates TNBC invasion and tumorigenesis., [RefSeq, PubMed]; Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Epilepsy phenotypes associated with MAP1B-related brain malformations., [RefSeq, PubMed]; Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing., [UniProtKB, PubMed, PubMed]; Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; The miR-223-3p/MAP1B axis aggravates TGF-beta-induced proliferation and migration of BPH-1 cells., [RefSeq, PubMed]; This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 158, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A2BDK5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005543 phospholipid binding;GO:0008017 microtubule binding;GO:0005198 structural molecule activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0097457 hippocampal mossy fiber;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0016358 dendrite development;GO:0031175 neuron projection development;GO:0045666 positive regulation of neuron differentiation;GO:0001764 neuron migration", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "P46821-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15648-1", "uniprot_id": [ { "id": "MED1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15648", "type": "external" } ], "mass": 168478.0, "length": 1581, "protein_name": "Mediator of RNA polymerase II transcription subunit 1", "gene_name": "MED1", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 1", "refseq_ac": [ { "id": "NP_004765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004765", "type": "external" } ], "gene_names_uniprotkb": "MED1; ARC205; CRSP1; CRSP200; DRIP205; DRIP230; PBP; PPARBP; PPARGBP; RB18A; TRAP220; TRIP2", "gene_names_refseq": "CRSP1; CRSP200; DRIP205; DRIP230; MED1; PBP; PPARBP; PPARGBP; RB18A; TRAP220; TRIP2", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 1; ARC205; Activator-recruited cofactor 205 kDa component; Mediator complex subunit 1; PBP; PPAR-binding protein; Peroxisome proliferator-activated receptor-binding protein; TR-interacting protein 2; TRIP-2; Thyroid hormone receptor-associated protein complex 220 kDa component; Thyroid receptor-interacting protein 2; Trap220; Vitamin D receptor-interacting protein complex component DRIP205; p53 regulatory protein RB18A", "protein_names_refseq": "ARC205; PPAR-binding protein; PPARG binding protein; TR-interacting protein 2; TRIP-2; activator-recruited cofactor 205 kDa component; mediator of RNA polymerase II transcription subunit 1; p53 regulatory protein RB18A; peroxisome proliferator-activated receptor-binding protein; thyroid hormone receptor-associated protein complex 220 kDa component; thyroid hormone receptor-associated protein complex component TRAP220; thyroid receptor interacting protein 2; vitamin D receptor-interacting protein 230 kD; vitamin D receptor-interacting protein complex component DRIP205", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:5469); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-212436); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-381340); (R-HSA-383280); (R-HSA-400206); (R-HSA-9018519); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9833110); (R-HSA-9841922); (R-HSA-9931509); (R-HSA-9933387)", "pathway_count": 16, "publication_count": 489, "publication_id_list": "10.1101/2023.09.13.557529;10024883;10075656;10198158;10235266;10235267;10330177;10381560;10400691;10406464;10412986;10425206;10478845;10494028;10500157;10529898;10542397;10558993;10643692;10713165;10733574;10759542;10770935;10777541;10828826;10835357;10873660;10882139;11010967;11018023;11027271;11034064;11095972;11103799;11136970;11162494;11165043;11226238;11237011;11241162;11267664;11303023;11330046;11340167;11345900;11387216;11395415;11410592;11414710;11452016;11581164;11607032;11682626;11779144;11809803;11865025;11867769;11872672;12034878;12037571;12083769;12118000;12130498;12130638;12177166;12213831;12218053;12356737;12356758;12374852;12377782;12406875;12498683;12505311;12511571;12556447;12563009;12582161;12612073;12738229;12745923;12764144;12829629;12959972;12969439;1310260;1377680;14519192;14631847;14636573;14672706;14675539;14976261;14980219;15001666;15067378;15130092;15175151;15175163;15175654;15273253;15276198;15282324;15302935;15340084;15343269;15345050;15471764;15500444;15514030;15560782;15635043;15665827;15684387;15761026;15850785;15896744;15919796;15986123;15989967;16009131;16046058;16079181;16079853;16087863;16113099;1630819;16314496;16380219;16476485;16503871;16568091;16574658;16606702;16719718;16751179;16788062;16857194;16890199;16908542;16911507;16964243;16972786;16980581;17000779;17007889;17011499;17013392;17031457;17081983;17264172;17277772;17306620;17437997;17449569;17463000;17495528;17510434;17525332;17637753;17666587;17690249;17715127;17761950;17923681;17925399;17980149;18006707;18037887;18077418;18187655;18215119;18219272;18256232;18288277;18292238;18322535;18343819;18358809;18420935;18452278;18476782;18533032;18540824;18559965;18587630;18654640;18669648;18680753;18682402;18691976;18719978;18726356;18762174;18767875;18805503;18848529;18931025;19001277;19001364;19020303;19043829;19088433;19098913;19115207;19172745;19274700;19289416;19295514;19321454;19356719;19369195;19383337;19413330;19417006;19608861;19651622;19664994;1968462;19690164;19690332;19710360;19710929;1971514;19718048;19786558;19934321;19951946;19968714;20058876;20068231;20101261;20110263;20112406;20138239;20219941;20220130;20230923;20410276;20450493;20498280;20570965;20581824;20682797;20719759;20817722;20929863;20937905;21106759;21151129;21406692;21445275;21479263;21573489;21628546;2163759;2181374;21835891;21878914;21889235;21934649;21940756;22056668;22090124;22265404;22381047;22427940;22492511;22545144;22634312;22704330;23145106;23172872;23186163;23192763;23239344;23301498;23303788;23403292;23435229;23481700;23723241;23906331;24167369;24196956;24245781;24371278;24714562;24715725;24735615;24854081;24885040;24973012;24998469;25068892;25296600;25365482;2539258;25418920;25433557;25542856;25576301;25633194;25663755;25674852;25728767;25810538;25854864;25880248;26056233;26153859;26154972;26204489;26462610;26479350;26728094;26743006;26811146;26960196;26992070;27062924;27071062;2713875;27397612;27754849;27846572;27862975;27886276;27920218;28063628;28111073;28218747;28228285;28430840;28539435;28649982;28698372;28832583;28834231;28904123;2919170;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2991279;29997176;30192525;30315122;30379171;30429286;3045126;31092671;31154438;31217245;31492838;31748741;31844290;31848261;31998317;32157095;32161166;32265295;32354867;32357974;32387766;32488085;32502341;32695117;3281094;32938616;32983136;33123756;33141586;33214551;33251127;33298915;33329381;3345742;33592498;33912179;33936100;33968037;34019948;34171305;3427020;34561969;34725712;3475708;34846842;3498214;35051231;35132862;35138101;35251023;35254053;35289036;35494241;35513511;35580925;36102648;36241641;3677090;37217939;37594664;37668531;38253038;38428427;38665916;39343952;39531497;39534244;40596516;6094553;7559524;7567999;7592729;7629110;7685352;7732023;7776974;7799916;7892212;7909540;7935485;7937828;7981125;8020941;8060328;8108407;8156598;8183939;8195246;8197458;8325954;8333869;8386511;8402897;8415693;8419924;8521497;8521498;8618898;8619637;8622974;8626466;8626488;8643605;8647822;8663599;8706692;8769649;8770873;8798690;8876171;8887638;8970730;8976377;9012850;9062340;9065481;9079689;9099716;9144434;9171241;9178750;9201922;9286700;9338790;9388265;9444950;9454824;9604010;9611253;9634533;9637681;9653119;9671459;9731700;9744270;9748239;9748295;9836620", "class_list": "", "function": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (PubMed:10406464, PubMed:11867769, PubMed:12037571, PubMed:12218053, PubMed:12556447, PubMed:14636573, PubMed:15340084, PubMed:15471764, PubMed:15989967, PubMed:16574658, PubMed:9653119). Acts as a coactivator for GATA1-mediated transcriptional activation during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MED1 induces M2 polarization of tumor-associated macrophages to aggravate breast cancer., [RefSeq, PubMed]; Mediator complex subunit 1 architects a tumorigenic Treg cell program independent of inflammation., [RefSeq, PubMed]; Mediator complex subunit 1 promotes oral squamous cell carcinoma progression by activating MMP9 transcription and suppressing CD8[+] T cell antitumor immunity. Publication Status: Online-Only, [RefSeq, PubMed]; Mediator subunit MED1 deficiency prevents carbon tetrachloride-induced hepatic fibrosis in mice., [RefSeq, PubMed]; The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [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": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 26, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 26, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 26, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 65, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "A2RRQ6;O43810;O75447;Q6P9H7;Q6PK58;Q9HD39", "ec_number_list": [], "go_molecular_function": "GO:0050693 LBD domain binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003714 transcription corepressor activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0000785 chromatin", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:2001141 regulation of RNA biosynthetic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 52.2, "record_id": "Q15648-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96000-1", "uniprot_id": [ { "id": "NDUBA_HUMAN", "url": "https://www.uniprot.org/uniprot/O96000", "type": "external" } ], "mass": 20777.0, "length": 172, "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10", "gene_name": "NDUFB10", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10", "refseq_ac": [ { "id": "NP_004539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004539", "type": "external" } ], "gene_names_uniprotkb": "NDUFB10", "gene_names_refseq": "MC1DN35; NDUFB10; PDSW", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10; CI-PDSW; Complex I-PDSW; NADH-ubiquinone oxidoreductase PDSW subunit", "protein_names_refseq": "CI-PDSW; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10; NADH ubiquinone oxidoreductase PDSW subunit (RH 16p13.3); NADH-ubiquinone oxidoreductase PDSW subunit; complex I PDSW subunit; complex I-PDSW", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 35 (Disease Ontology:DOID:0112139)", "pathway": " (hsa:4716); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;18083107;186667;19752196;20068231;20406883;20552642;20858599;21924235;22706990;23150584;23186163;23270816;23481700;23553477;23564345;23747254;239860;24191001;24366607;25418920;25564869;25576301;25645385;25678554;25880248;26154972;26375851;26992070;27499296;27600516;27626371;27846572;27893789;27920218;28040730;28228285;28352266;28510447;28649982;28832583;28834231;28904123;29242379;29331515;29493099;29508533;29557506;29632711;29786170;29789417;30315122;30429286;30484775;30779550;30833945;31154438;31222486;31530632;31666358;31844290;31848261;31866046;32157095;32320651;32357974;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33879611;33882309;33912179;33936100;33968037;33981976;34087483;34171305;34561969;35051231;35318648;35333655;35561310;35580925;35614220;36241641;36952351;37938771;38199007;38665916;4288886;9571201;9878551", "class_list": "", "function": "Accessory subunit that is involved in the functional assembly of the mitochondrial respiratory chain complex I. Complex I has an NADH dehydrogenase activity with ubiquinone as an immediate electron acceptor and mediates the transfer of electrons from NADH to the respiratory chain., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Loss of respiratory complex I subunit NDUFB10 affects complex I assembly and supercomplex formation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96II6", "ec_number_list": [], "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:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "O96000-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09958-1", "uniprot_id": [ { "id": "FURIN_HUMAN", "url": "https://www.uniprot.org/uniprot/P09958", "type": "external" } ], "mass": 86678.0, "length": 794, "protein_name": "Furin", "gene_name": "FURIN", "organism": "Human", "refseq_name": "furin isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001276752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276752", "type": "external" } ], "gene_names_uniprotkb": "FURIN; FUR; PACE; PCSK3", "gene_names_refseq": "FURIN; FUR; PACE; PCSK3; SPC1", "protein_names_uniprotkb": "Furin; 3.4.21.75; Dibasic-processing enzyme; PACE; Paired basic amino acid residue-cleaving enzyme", "protein_names_refseq": "FES upstream region; dibasic processing enzyme; furin isoform 1 preproprotein; furin, membrane associated receptor protein; paired basic amino acid residue-cleaving enzyme; proprotein convertase subtilisin/kexin 3; proprotein convertase subtilisin/kexin type 3; subtilisin-like proprotein convertase 1", "tax_id": 9606, "disease": "arteriosclerosis (Disease Ontology:DOID:2349); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:5045); (R-HSA-1181150); (R-HSA-1442490); (R-HSA-1566948); (R-HSA-1592389); (R-HSA-159782); (R-HSA-167060); (R-HSA-171286); (R-HSA-186797); (R-HSA-1912420); (R-HSA-2173789); (R-HSA-2173796); (R-HSA-5210891); (R-HSA-6809371); (R-HSA-8963889); (R-HSA-9662834); (R-HSA-9679191); (R-HSA-9694614); (R-HSA-9733458); (R-HSA-9768727); (R-HSA-977225); (R-HSA-9820960); (R-HSA-9828806); (R-HSA-9918476); (R-HSA-9918485); (R-HSA-9953170)", "pathway_count": 26, "publication_count": 564, "publication_id_list": "10022869;10049780;10066432;10066784;10075724;10087012;10097139;10196183;10198291;10199400;10231017;10319874;10366590;10391242;10411887;10411933;10459009;10473623;10497257;10508235;10545110;10551873;10583407;10588656;10601018;10648003;10669757;10771479;10809722;10822381;10900462;10934479;10935626;10935637;10936461;10956649;10975989;11007770;11013208;11013220;11024047;11100470;11104681;11119712;11135303;11141505;11237011;11274402;11278841;11294908;11331585;11337487;11350120;11380615;11389842;11390472;11401442;11424093;11427533;11467836;11477410;11481325;11485994;11530204;11577169;11590230;11590439;11687658;11688984;11707585;11779503;11779505;11799113;11830519;118839;11927537;12049766;12058067;12063393;12150994;12369853;12446674;12454989;12482908;12538485;12579531;12592392;12621058;12682107;1270801;12755693;12787574;12902340;12917425;1295745;1301939;1311092;1311314;1333888;1371271;1390635;1438214;14506261;14567678;14623079;14657019;1480033;14978253;15005656;15010527;15033990;15064394;15098107;15100235;15140961;15150273;15150278;15163706;15207811;15257288;15284087;15337774;15337775;15350224;15474033;15479433;15485907;15507651;15531507;15564041;15596135;15615512;15767546;15797384;15800215;15803139;15838506;15950618;15962837;16061697;16109723;16115318;16171404;16174740;16260601;16278212;1629222;16319104;16331269;1639841;16436588;1644824;16474853;16511497;16522641;16639001;16799559;16825197;16906757;16962401;1704217;17088321;17088546;1713771;17234158;17261850;17272273;17367763;17425515;17438144;17515931;17562024;17596512;17604334;1764995;17662961;1783204;17883852;17943726;17994020;17997385;18065497;18070888;18266465;1837051;18449172;18469808;18484335;18491227;1849145;18559524;18568018;18622425;18843291;19011241;19114992;19190773;19194479;19304573;19361614;19564526;19658395;19701457;19720988;19828817;19909832;19914168;2005102;20170518;20179351;20188673;20197277;20223979;20356926;20489134;20581395;20595680;20625381;20657595;20667819;20676056;20694664;20807650;20807704;20813817;20940292;21068237;21097675;2114169;21151871;2118650;21251937;21325420;21356369;21376233;21383881;21439340;21532621;21593211;2159879;21654840;21666694;2169257;2169335;21719679;21763278;2176865;21844202;21935455;2195544;21997417;22065755;22131221;22241472;22246777;22246778;22262056;22275377;22375065;22382088;22401777;22496216;2251280;2253219;22552008;22569073;2269296;22740495;22814904;22816037;22933705;23020258;23084921;23105391;23150577;23290524;23481700;23583652;23629652;23641311;23658209;23813966;2383557;24074594;2408021;2409350;24227843;24272870;24275664;24338472;24397894;24584101;24666235;24681004;24715725;24833601;24893886;24909692;24960069;24966173;25328409;2537292;25387803;2546891;2548603;25502872;2551898;25523424;25576301;2557753;25597754;25795784;25801024;25926655;25974265;26002965;26018760;26056282;26212330;26311884;26390218;26416966;26417681;26468529;26668317;26686862;2674906;26807092;26933753;26934567;26934667;26953343;26992070;27255086;27277342;27452731;27550352;27582320;27832191;27846572;279930;28218747;2834383;28425720;28435517;2845110;28512129;28645896;28832583;28834231;2900981;29045841;29093181;29137923;29242379;29263244;29393594;29408302;29427996;29493099;29557506;29610346;29632046;29742433;29789417;29945920;29964125;30201761;3023061;3035556;3038863;30389923;3053705;3058116;3080684;30833945;3094007;31048504;31085175;31091448;31154438;31217245;31268602;3142462;31720911;31844290;31848261;31936902;31937595;31998317;32125455;32142651;32157095;32162841;32179150;3223920;32295904;32350084;32357974;32362314;32488085;32510692;32512386;32532959;32581219;32653452;32703818;32721790;32897882;32938616;32942285;32970989;32983136;32995803;33043033;33051876;33082293;33082294;33298900;33298915;33310888;33493182;33493263;33494095;33554856;33581114;33592498;33774649;33827113;33876762;33890572;33968037;33981976;34023935;34159616;34171305;34179075;34213849;34235261;34235568;34324210;34357683;34431042;34504087;34510494;34528721;34542788;34561887;34611326;34613786;34732583;34782609;34929169;35051231;35154160;35251023;35343766;35452674;3675579;38489333;38570613;39031635;39337476;39394410;4216367;6123066;6258630;6263256;6270089;6328915;6694361;7512561;7543090;7592670;7592877;7669817;7690548;7693660;7737999;7746327;7780967;7826345;7854123;7890645;7890717;7896811;7918097;7981201;7982500;8015608;8020465;8033412;8047140;8051159;8097946;8114934;8159701;8163529;8194591;8242743;8253774;8293978;8314771;8463259;8464497;8473289;8485124;8490014;8530478;8576151;8615794;8617364;8621565;8645182;8663255;8681805;8804434;8824274;8830800;8846780;8870004;8878477;8900172;8920930;8921966;8947046;8980228;8999895;8999957;9006323;9054935;9092507;9130696;9136889;9187150;9207795;9233797;9244302;9261109;9288972;9311995;9334164;9346290;9346966;9379936;9395522;9412467;9422744;9520379;9523318;9563949;9565599;9578462;9632662;9651395;9653148;9670020;9702198;9703991;9727485;9739761;9862427;9865696;9931503", "class_list": "glycogene", "function": "(Microbial infection) Able to cleave S.pneumoniae serine-rich repeat protein PsrP., [UniProtKB, PubMed]; (Microbial infection) Cleaves and activates HIV-1 virus Envelope glycoprotein gp160., [UniProtKB, PubMed]; (Microbial infection) Cleaves and activates anthrax toxin protective antigen (PA)., [UniProtKB, PubMed, PubMed]; (Microbial infection) Cleaves and activates diphtheria toxin DT., [UniProtKB, PubMed]; (Microbial infection) Facilitates human coronaviruses EMC and SARS-CoV-2 infections by proteolytically cleaving the spike protein at the monobasic S1/S2 cleavage site. This cleavage is essential for spike protein-mediated cell-cell fusion and entry into human lung cells., [UniProtKB, PubMed, PubMed]; (Microbial infection) Facilitates mumps virus infection by proteolytically cleaving the viral fusion protein F., [UniProtKB, PubMed]; (Microbial infection) Required for H7N1 and H5N1 influenza virus infection probably by cleaving hemagglutinin., [UniProtKB, PubMed]; Furin Egress from the TGN is Regulated by Membrane-Associated RING-CH Finger (MARCHF) Proteins and Ubiquitin-Specific Protease 32 (USP32) via Nondegradable K33-Polyubiquitination., [RefSeq, PubMed]; Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations. Erratum:[Sci Rep. 2024 Apr 25;14(1):9523. doi: 10.1038/s41598-024-60182-8. PMID: 38664564] Publication Status: Online-Only, [RefSeq, PubMed]; Pathological changes in oral epithelium and the expression of SARS-CoV-2 entry receptors, ACE2 and furin. Publication Status: Online-Only, [RefSeq, PubMed]; The Furin Protease Dependence and Antiviral GBP2 Sensitivity of Murine Leukemia Virus Infection Are Determined by the Amino Acid Sequence at the Envelope Glycoprotein Cleavage Site. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. Like other members of this convertase family, the product of this gene specifically cleaves substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140, and may play a role in tumor progression. Unlike SARS-CoV and other coronaviruses, the spike protein of SARS-CoV-2 is thought to be uniquely cleaved by this protease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]., [RefSeq]; Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation (PubMed:7737999). Converts through proteolytic cleavage the non-functional Brain natriuretic factor prohormone into its active hormone BNP(1-32) (PubMed:20489134, PubMed:21763278). By mediating processing of accessory subunit ATP6AP1/Ac45 of the V-ATPase, regulates the acidification of dense-core secretory granules in islets of Langerhans cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, 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": 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": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 903, "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": "Q14336;Q6LBS3;Q9UCZ5", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "3.4.21.122", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.122", "type": "external" }, { "id": "3.4.21.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.5", "type": "external" }, { "id": "3.4.21.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.22", "type": "external" }, { "id": "3.4.21.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.6", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "3.4.21.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.21", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "3.4.24.80", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.80", "type": "external" }, { "id": "3.4.23.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.46", "type": "external" }, { "id": "3.4.24.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.86", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "3.4.17.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.23", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.21.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.109", "type": "external" } ], "go_molecular_function": "GO:0048406 nerve growth factor binding;GO:0002020 protease binding;GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005796 Golgi lumen", "go_biological_process": "GO:0019058 viral life cycle;GO:0019082 viral protein processing;GO:0032902 nerve growth factor production;GO:0090472 dibasic protein processing;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 56.7, "record_id": "P09958-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100010001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76041-1", "uniprot_id": [ { "id": "NEBL_HUMAN", "url": "https://www.uniprot.org/uniprot/O76041", "type": "external" } ], "mass": 116453.0, "length": 1014, "protein_name": "Nebulette", "gene_name": "NEBL", "organism": "Human", "refseq_name": "nebulette isoform 3", "refseq_ac": [ { "id": "NP_001166955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166955", "type": "external" } ], "gene_names_uniprotkb": "NEBL; C10orf113; LNEBL", "gene_names_refseq": "C10orf113; LASP2; LNEBL; NEBL; bA165O3.1", "protein_names_uniprotkb": "Nebulette; Actin-binding Z-disk protein", "protein_names_refseq": "LIM and SH3 protein 2; LIM-nebulette; actin-binding Z-disk protein; nebulette isoform 3", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:10529)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10470015;11140941;11237011;15004028;23271734;23985323;24129315;27733623;29242379;29557506;30379171;31154438;32325347;32635793;33015783;33981976;34185709;35051231;35580925;36284347;37217939;38215565;9733644", "class_list": "", "function": "Binds to actin and plays an important role in the assembly of the Z-disk. May functionally link sarcomeric actin to the desmin intermediate filaments in the heart muscle sarcomeres (PubMed:27733623)., [UniProtKB, PubMed]; Downregulation of NEBL promotes migration and invasion of clear cell renal cell carcinoma by inducing epithelial-mesenchymal transition., [RefSeq, PubMed]; LASP2 functions as a potential prognostic factor and therapeutic target in nasopharyngeal carcinoma., [RefSeq, PubMed]; LASP2 inhibits trophoblast cell migration and invasion in preeclampsia through inactivation of the Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; LASP2 is downregulated in human liver cancer and contributes to hepatoblastoma cell malignant phenotypes through MAPK/ERK pathway., [RefSeq, PubMed]; May play a role in the assembly of focal adhesions., [UniProtKB, PubMed]; This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ45;B9EIM9;E9PRX7;Q2TBD0;Q5VZT2;Q70I54;Q9UIC4", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0008092 cytoskeletal protein binding;GO:0008307 structural constituent of muscle;GO:0005523 tropomyosin binding;GO:0031005 filamin binding", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0001725 stress fiber;GO:0031674 I band;GO:0030018 Z disc", "go_biological_process": "GO:0071691 cardiac muscle thin filament assembly", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O76041-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3Q0-1", "uniprot_id": [ { "id": "NALD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3Q0", "type": "external" } ], "mass": 83592.0, "length": 740, "protein_name": "N-acetylated-alpha-linked acidic dipeptidase 2", "gene_name": "NAALAD2", "organism": "Human", "refseq_name": "N-acetylated-alpha-linked acidic dipeptidase 2 isoform 2", "refseq_ac": [ { "id": "NP_001287859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287859", "type": "external" } ], "gene_names_uniprotkb": "NAALAD2", "gene_names_refseq": "GCP3; GCPIII; GPCIII; NAALAD2", "protein_names_uniprotkb": "N-acetylated-alpha-linked acidic dipeptidase 2; 3.4.17.21; GCPIII; Glutamate carboxypeptidase III; N-acetylated-alpha-linked acidic dipeptidase II; NAALADase II", "protein_names_refseq": "N-acetylated alpha-linked acidic dipeptidase II; N-acetylated-alpha-linked acidic dipeptidase 2 isoform 2; NAALADASE2; NAALADase II; glutamate carboxypeptidase III", "tax_id": 9606, "disease": "", "pathway": " (hsa:10003); (R-HSA-8963693)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;10085079;10369257;10642534;11237011;11566871;12602510;14716746;16303743;16467855;16669630;17027983;17194761;19641205;19678840;19807691;22304711;2241899;22718265;23038267;24155240;24657844;24715725;2564390;27045997;29372909;30844704;31324691;31844290;33141586;34198725;34850884;35051231;37074911;4052435", "class_list": "", "function": "GCPII has been recognized as a neuropeptidase in the central nervous system, as a folate hydrolase participating in absorption of folates in the jejunum and, most importantly, as a prostate-specific membrane antigen that is highly expressed in prostate adenocarcinoma; GCPIII has not been associated with any specific physiolological functions [review] Review article Publication Status: Online-Only, [RefSeq, PubMed]; Has N-acetylated-alpha-linked-acidic dipeptidase (NAALADase) activity. Also exhibits a dipeptidyl-peptidase IV type activity. Inactivates the peptide neurotransmitter N-acetylaspartylglutamate., [UniProtKB, PubMed]; Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus., [RefSeq, PubMed]; Promoter Methylation of PRKCB, ADAMTS12, and NAALAD2 Is Specific to Prostate Cancer and Predicts Biochemical Disease Recurrence. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 40, "reported_interactions": 0, "missing_score": 9577, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B3KQR4;Q4KKV4;Q4VAM9", "ec_number_list": [ { "id": "3.4.17.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.21", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0008239 dipeptidyl-peptidase activity;GO:0046872 metal ion binding;GO:0004180 carboxypeptidase activity;GO:0004181 metallocarboxypeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9Y3Q0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N184-3", "uniprot_id": [ { "id": "ZN567_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N184", "type": "external" } ], "mass": 75164.0, "length": 647, "protein_name": "Zinc finger protein 567", "gene_name": "ZNF567", "organism": "Human", "refseq_name": "zinc finger protein 567 isoform 1", "refseq_ac": [ { "id": "NP_001287908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287908", "type": "external" } ], "gene_names_uniprotkb": "ZNF567", "gene_names_refseq": "ZNF567", "protein_names_uniprotkb": "Zinc finger protein 567", "protein_names_refseq": "zinc finger protein 567 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:163081); (R-HSA-212436)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24715725;25218447;25576301;26375851;28649982;28832583;29242379;29493099;29557506;29786170;30379171;31154438;31844290;31937595;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33968037;33981976;34087483;34171305;34211107;34405274;34509645;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": 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": "B3KX49;Q6N044", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q8N184-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVD3-1", "uniprot_id": [ { "id": "RN138_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVD3", "type": "external" } ], "mass": 28193.0, "length": 245, "protein_name": "E3 ubiquitin-protein ligase RNF138", "gene_name": "RNF138", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF138 isoform 1", "refseq_ac": [ { "id": "NP_001178253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178253", "type": "external" } ], "gene_names_uniprotkb": "RNF138; HSD-4; HSD4; NARF", "gene_names_refseq": "HSD-4; NARF; RNF138; STRIN; hNARF", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF138; 2.3.2.27; NLK-associated RING finger protein; Nemo-like kinase-associated RING finger protein; RING finger protein 138; RING-type E3 ubiquitin transferase RNF138; hNARF", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF138 isoform 1; E3 ubiquitin-protein ligase RNF138; NLK-associated RING finger protein; Nemo-like kinase-associated RING finger protein; RING-type E3 ubiquitin transferase RNF138; nemo-like kinase associated ring finger protein; ring finger protein 138, E3 ubiquitin protein ligase; testicular tissue protein Li 165", "tax_id": 9606, "disease": "", "pathway": " (hsa:51444); (R-HSA-983168)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16714285;16849449;16954532;17525332;18077418;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23186163;25576301;25892735;26502055;26502057;26992070;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29769354;30315122;31848261;32157095;33592498;33691108;34171305;35494241;35697692;36010636;36010968;36800290;38309501;38666590;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase involved in DNA damage response by promoting DNA resection and homologous recombination (PubMed:26502055, PubMed:26502057). Recruited to sites of double-strand breaks following DNA damage and specifically promotes double-strand break repair via homologous recombination (PubMed:26502055, PubMed:26502057). Two different, non-exclusive, mechanisms have been proposed. According to a report, regulates the choice of double-strand break repair by favoring homologous recombination over non-homologous end joining (NHEJ): acts by mediating ubiquitination of XRCC5/Ku80, leading to remove the Ku complex from DNA breaks, thereby promoting homologous recombination (PubMed:26502055). According to another report, cooperates with UBE2Ds E2 ubiquitin ligases (UBE2D1, UBE2D2, UBE2D3 or UBE2D4) to promote homologous recombination by mediating ubiquitination of RBBP8/CtIP (PubMed:26502057). Together with NLK, involved in the ubiquitination and degradation of TCF/LEF (PubMed:16714285). Also exhibits auto-ubiquitination activity in combination with UBE2K (PubMed:16714285). May act as a negative regulator in the Wnt/beta-catenin-mediated signaling pathway (PubMed:16714285)., [UniProtKB, PubMed, PubMed, PubMed]; NARF functions as a novel ubiquitin-ligase to regulate ubiquitylation and degradation of T cell factor/lymphoid enhancer factor, [RefSeq, PubMed]; RING finger 138 deregulation distorts NF-small ka, CyrillicB signaling and facilities colitis switch to aggressive malignancy. Publication Status: Online-Only, [RefSeq, PubMed]; RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex., [RefSeq, PubMed]; Ring finger protein 138 inhibits transcription factor C/EBPalpha protein turnover leading to differentiation arrest in acute myeloid leukemia., [RefSeq, PubMed]; The Ubiquitin Ligase RNF138 Cooperates with CtIP to Stimulate Resection of Complex DNA Double-Strand Breaks in Human G1-Phase Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of RNF138 in DNA end resection is regulated by ubiquitylation and CDK phosphorylation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RE17;Q9H8K2;Q9UF87;Q9UKI6", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0061630 ubiquitin protein ligase activity;GO:0003697 single-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0035861 site of double-strand break;GO:0005694 chromosome", "go_biological_process": "GO:0016055 Wnt signaling pathway;GO:0016567 protein ubiquitination;GO:0000724 double-strand break repair via homologous recombination;GO:0010792 DNA double-strand break processing involved in repair via single-strand annealing;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8WVD3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA03-1", "uniprot_id": [ { "id": "FSIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA03", "type": "external" } ], "mass": 66121.0, "length": 581, "protein_name": "Fibrous sheath-interacting protein 1", "gene_name": "FSIP1", "organism": "Human", "refseq_name": "fibrous sheath-interacting protein 1", "refseq_ac": [ { "id": "NP_001311267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311267", "type": "external" } ], "gene_names_uniprotkb": "FSIP1; HSD10", "gene_names_refseq": "FSIP1; HSD10", "protein_names_uniprotkb": "Fibrous sheath-interacting protein 1", "protein_names_refseq": "fibrous sheath-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:161835)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;18452278;20513247;23905897;25826084;29557506;30379171;31217245;31713931;32357974;32717308;33298915;35051231;35692888;36010968;37460715", "class_list": "", "function": "Association between the variants in FSIP1 and aspirin intolerant asthma occurrence among asthmatics in a Korean population GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; FSIP1 Is Associated with Poor Prognosis and Can Be Used to Construct a Prognostic Model in Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; FSIP1 enhances the therapeutic sensitivity to CDK4/6 inhibitors in triple-negative breast cancer patients by activating the Nanog pathway. Erratum:[Sci China Life Sci. 2025 Aug;68(8):2501-2502. doi: 10.1007/s11427-025-2930-3. PMID: 40549239], [RefSeq, PubMed]; FSIP1 may play an important role in the tumorigenesis and invasion of breast cancer and is a potential biomarker for breast cancer diagnosis or prognosis., [RefSeq, PubMed]; FSIP1 overexpression correlated with decreased overall survival in hormone receptor-positive breast cancer patients., [RefSeq, PubMed]; Loss-of-function variants in FSIP1 identified by targeted sequencing are associated with one particular subtype of mucosal melanoma., [RefSeq, PubMed]; Prevalence and uniformity of FSIP1 expression in breast tumors, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q6X2C8;Q86Y89", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8NA03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KP1-1", "uniprot_id": [ { "id": "EXOC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KP1", "type": "external" } ], "mass": 104066.0, "length": 924, "protein_name": "Exocyst complex component 2", "gene_name": "EXOC2", "organism": "Human", "refseq_name": "exocyst complex component 2", "refseq_ac": [ { "id": "NP_060773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060773", "type": "external" } ], "gene_names_uniprotkb": "EXOC2; SEC5L1; SEC5", "gene_names_refseq": "EXOC2; NEDFACH; SEC5L1; SEC5; Sec5p", "protein_names_uniprotkb": "Exocyst complex component 2; Exocyst complex component Sec5", "protein_names_refseq": "SEC5-like 1; exocyst complex component 2; exocyst complex component Sec5", "tax_id": 9606, "disease": "neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (MONDO:MONDO:0859141)", "pathway": " (hsa:55770); (R-HSA-1445148); (R-HSA-264876); (R-HSA-5620916)", "pathway_count": 4, "publication_count": 169, "publication_id_list": "10521251;11237011;11462236;11493706;11707400;11904301;12221131;12459492;14617756;14704853;15158452;1528899;15302935;15331542;15728366;15878854;15919790;15971998;16038802;16136078;16155582;16158220;16158222;16213214;16407158;16431365;16537653;16714477;16782012;16880201;16984975;17007872;17030804;17081983;17369524;17574030;17628206;17646400;17956946;17995453;18452278;18685082;18756269;19013499;19017632;19153612;19166349;19252894;19297529;19454479;19608861;19651622;20068231;20083215;20308425;20308558;20631154;20701589;20837646;20937701;21091435;21145486;21273506;21308844;21454505;21454690;21550243;21565611;21713314;21775626;21907143;22389062;22420621;22424782;22433857;22983554;23186163;23351793;23481700;23567335;23945166;24296415;24714562;24715725;25091901;25418920;2550440;25576301;25645385;25802875;25880248;26375851;2669954;26811146;26992070;27600516;27846572;27920218;28218747;2822027;28228285;28446606;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;31184304;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32639540;32723473;32897882;32938616;32983136;33141586;33485965;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38935506;3896518;7626024;8094051;8664345;8916141;9166668;9207799;9631292;9819391", "class_list": "", "function": "Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Mutations in the exocyst component EXOC2 cause severe defects in human brain development., [RefSeq, PubMed]; SEC5 has been identified as a binding partner of deafness locus putative guanine nucleotide exchange factor., [RefSeq, PubMed]; The exocyst subunit EXOC2 regulates the toxicity of expanded GGGGCC repeats in C9ORF72-ALS/FTD., [RefSeq, PubMed]; The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 1, "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": "B2RBE6;Q5JPC8;Q96AN6;Q9NUZ8;Q9UJM7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0031267 small GTPase binding;GO:0030742 GTP-dependent protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0090543 Flemming body;GO:0000145 exocyst", "go_biological_process": "GO:2000535 regulation of entry of bacterium into host cell;GO:0015031 protein transport;GO:0000281 mitotic cytokinesis;GO:0006887 exocytosis;GO:0006893 Golgi to plasma membrane transport", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q96KP1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43490-1", "uniprot_id": [ { "id": "NAMPT_HUMAN", "url": "https://www.uniprot.org/uniprot/P43490", "type": "external" } ], "mass": 55521.0, "length": 491, "protein_name": "Nicotinamide phosphoribosyltransferase", "gene_name": "NAMPT", "organism": "Human", "refseq_name": "nicotinamide phosphoribosyltransferase precursor", "refseq_ac": [ { "id": "NP_005737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005737", "type": "external" } ], "gene_names_uniprotkb": "NAMPT; PBEF1; PBEF", "gene_names_refseq": "1110035O14Rik; NAMPT; PBEF1; PBEF; VF; VISFATIN", "protein_names_uniprotkb": "Nicotinamide phosphoribosyltransferase; 2.4.2.12; NAmPRTase; Nampt; Pre-B cell-enhancing factor; Pre-B-cell colony-enhancing factor 1; Visfatin", "protein_names_refseq": "NAmPRTase; nicotinamide phosphoribosyltransferase precursor; pre-B cell-enhancing factor; pre-B-cell colony-enhancing factor 1", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); kidney failure (Disease Ontology:DOID:1074); transient cerebral ischemia (Disease Ontology:DOID:224); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary hypertension (Disease Ontology:DOID:6432); periodontitis (Disease Ontology:DOID:824); psoriasis (Disease Ontology:DOID:8893); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10135); (R-HSA-1368108); (R-HSA-196807); (R-HSA-9768919)", "pathway_count": 4, "publication_count": 169, "publication_id_list": "10331643;10613898;11018023;11162494;11237011;11241162;11248244;11594753;11788603;11866528;11991719;12130638;12359228;12406875;12547821;12574164;12738229;12790796;13563527;14516279;14672706;14701734;14966140;15090606;15137942;15381699;15500444;15560782;15592455;15674325;16118205;1637327;16690024;16783377;16857194;16959974;17402747;17604275;17641676;17868694;17914902;18083107;18411268;18587630;18691976;19531469;19710929;20388704;20977903;2129526;21368041;21504897;21699903;21741723;21933152;21994945;22223895;22462624;22701565;22822066;23186163;23212377;23230272;23783831;24130902;24291638;24465693;24714562;24715725;24717514;24847004;25502872;25505266;25531177;25576301;25645385;25880248;25892735;26154972;26853435;26992070;27397612;27472814;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29769354;29786170;2991279;30315122;30429286;30484775;30524438;30779550;30833945;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32906142;32938616;32983136;33043033;33087354;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34433824;34561969;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36196536;36241641;36284347;37217939;37938771;38155161;38216702;38252081;38387912;38560458;40914422;4349867;7981125;8182091;8289818;8527488;8575745;8618898;8809081;9473669", "class_list": "", "function": "Association between visfatin and periodontitis: a systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Association of Visfatin gene polymorphism with obesity related metabolic disorders among Pakistani population: a case control study. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway. The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma. Plays a role in the modulation of circadian clock function. NAMPT-dependent oscillatory production of NAD regulates oscillation of clock target gene expression by releasing the core clock component: CLOCK-BMAL1 heterodimer from NAD-dependent SIRT1-mediated suppression (By similarity)., [UniProtKB, PubMed, UniProtKB]; Fibroblast growth factor-21 and Visfatin as potential predictors for metabolic risk factors in obese children. Publication Status: Online-Only, [RefSeq, PubMed]; NAMPT promotes the malignant progression of HBV-associated hepatocellular carcinoma through activation of SREBP1-mediated lipogenesis., [RefSeq, PubMed]; This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]., [RefSeq]; [Mechanism and Clinical Significance of NAMPT in Multiple Myeloma]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D0Q9;A4D0R0;Q3KQV0;Q8WW95", "ec_number_list": [ { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.4.2.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.12", "type": "external" } ], "go_molecular_function": "GO:0047280 nicotinamide phosphoribosyltransferase activity;GO:0042802 identical protein binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0005615 extracellular space", "go_biological_process": "GO:0006741 NADP+ biosynthetic process;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "P43490-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00688-1", "uniprot_id": [ { "id": "FKBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00688", "type": "external" } ], "mass": 25177.0, "length": 224, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP3", "gene_name": "FKBP3", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP3", "refseq_ac": [ { "id": "NP_002004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002004", "type": "external" } ], "gene_names_uniprotkb": "FKBP3; FKBP25", "gene_names_refseq": "FKBP-25; FKBP-3; FKBP25; FKBP3; PPIase", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP3; 25 kDa FK506-binding protein; 25 kDa FKBP; 5.2.1.8; FK506-binding protein 3; FKBP-25; FKBP-3; Immunophilin FKBP25; PPIase FKBP3; Rapamycin-selective 25 kDa immunophilin; Rotamase", "protein_names_refseq": "25 kDa FK506-binding protein; 25 kDa FKBP; FK506 binding protein 3, 25kDa; FK506-binding protein 25, T-cell; FK506-binding protein 3; PPIase FKBP3; immunophilin FKBP25; peptidyl-prolyl cis-trans isomerase FKBP3; rapamycin binding protein; rapamycin-selective 25 kDa immunophilin; rotamase", "tax_id": 9606, "disease": "", "pathway": " (hsa:2287)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "11237011;1374240;1375932;1376117;14654843;17081983;18669648;19608861;20068231;20112406;22424782;23481700;24715725;25645385;25810538;25880248;26154972;26375851;26768311;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28510447;28832583;28834231;28904123;29242379;29361176;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30620620;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33968037;33981976;34019948;34087483;34211107;34229054;34281390;34405274;34509645;34725712;34875997;35051231;35154160;35251023;35580925;36010968;36241641;36284347;37082996;38665916;38941396", "class_list": "", "function": "Esterase D stabilizes FKBP25 to suppress mTORC1. Publication Status: Online-Only, [RefSeq, PubMed]; FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins., [UniProtKB]; FKBP3 Induces Human Immunodeficiency Virus Type 1 Latency by Recruiting Histone Deacetylase 1/2 to the Viral Long Terminal Repeat., [RefSeq, PubMed]; FKBP3, a poor prognostic indicator, promotes the progression of LUAD via regulating ferroptosis and immune infiltration., [RefSeq, PubMed]; Knockdown of FKBP3 suppresses nasopharyngeal carcinoma cell growth, invasion and migration, deactivated NF-kappaB/IL-6 signaling pathway through inhibiting histone deacetylase 2 expression., [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, as well as histone deacetylases, the transcription factor YY1, casein kinase II, and nucleolin. It has a higher affinity for rapamycin than for FK506 and thus may be an important target molecule for immunosuppression by rapamycin. [provided by RefSeq, Sep 2008]., [RefSeq]; The results identify FKBP25 as a component of the DNA double-strand breaks (DSB) repair 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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4Q9;Q14317", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005528 FK506 binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q00688-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05413-1", "uniprot_id": [ { "id": "FABPH_HUMAN", "url": "https://www.uniprot.org/uniprot/P05413", "type": "external" } ], "mass": 14858.0, "length": 133, "protein_name": "Fatty acid-binding protein, heart", "gene_name": "FABP3", "organism": "Human", "refseq_name": "fatty acid-binding protein, heart isoform 2", "refseq_ac": [ { "id": "NP_004093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004093", "type": "external" } ], "gene_names_uniprotkb": "FABP3; FABP11; MDGI", "gene_names_refseq": "FABP11; FABP3; H-FABP; M-FABP; MDGI; O-FABP", "protein_names_uniprotkb": "Fatty acid-binding protein, heart; Fatty acid-binding protein 3; H-FABP; Heart-type fatty acid-binding protein; M-FABP; MDGI; Mammary-derived growth inhibitor; Muscle fatty acid-binding protein", "protein_names_refseq": "epididymis secretory sperm binding protein; fatty acid binding protein 11; fatty acid binding protein 3, muscle and heart; fatty acid-binding protein, heart isoform 2; heart-type fatty acid-binding protein; mammary-derived growth inhibitor; muscle fatty acid-binding protein", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); Down syndrome (Disease Ontology:DOID:14250); congenital heart disease (Disease Ontology:DOID:1682); myocardial infarction (Disease Ontology:DOID:5844); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2170); (R-HSA-163560)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10671541;11171102;11237011;12832420;1526991;15364929;15456755;16741517;1710107;17603008;19181555;21504868;22223895;2266954;28643014;29557506;31844290;3421901;37787063;37788726;37802485;38269633;38777142;7498159;7691977;7922029;8262516", "class_list": "", "function": "Anti bacterial function of secreted human FABP3., [RefSeq, PubMed]; Circulating H-FABP as a biomarker of frailty in patients with chronic heart failure., [RefSeq, PubMed]; FABPs are thought to play a role in the intracellular transport of long-chain fatty acids and their acyl-CoA esters., [UniProtKB]; Fatty acid binding to the human transport proteins FABP3, FABP4, and FABP5 from a Ligand's perspective., [RefSeq, PubMed]; Fatty acid-binding protein-3 and renal function decline in patients with chronic coronary syndrome., [RefSeq, PubMed]; Serum levels of soluble suppression of tumorigenicity 2 (sST2) and heart-type fatty acid binding protein (H-FABP) independently predict in-hospital mortality in geriatric patients with COVID-19., [RefSeq, PubMed]; The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAB6;Q5VV93;Q99957", "ec_number_list": [], "go_molecular_function": "GO:0036041 long-chain fatty acid binding;GO:0050543 icosatetraenoic acid binding;GO:0070538 oleic acid binding;GO:0005319 lipid transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0016528 sarcoplasm", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0008285 negative regulation of cell population proliferation;GO:0046320 regulation of fatty acid oxidation;GO:0042632 cholesterol homeostasis;GO:0055091 phospholipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P05413-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75459-1", "uniprot_id": [ { "id": "PAGE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75459", "type": "external" } ], "mass": 16150.0, "length": 146, "protein_name": "P antigen family member 1", "gene_name": "PAGE1", "organism": "Human", "refseq_name": "P antigen family member 1", "refseq_ac": [ { "id": "NP_003776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003776", "type": "external" } ], "gene_names_uniprotkb": "PAGE1; GAGE9; GAGEB1", "gene_names_refseq": "AL5; CT16.3; GAGE-9; GAGEB1; PAGE-1; PAGE1", "protein_names_uniprotkb": "P antigen family member 1; AL5; G antigen 9; G antigen family B member 1; GAGE-9; PAGE-1; Prostate-associated gene 1 protein", "protein_names_refseq": "G antigen 9; G antigen family B member 1; G antigen, family B, 1 (prostate associated); P antigen family member 1; P antigen family, member 1 (prostate associated); prostate associated gene 1; prostate-associated gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8712)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "18179644;18669648;20237496;23186163;9651357", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. Unlike the other gene family members, this gene does not encode an antigenic peptide. Nothing is presently known about the function of this 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGM3;Q9BSS7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O75459-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBV2-1", "uniprot_id": [ { "id": "SE1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBV2", "type": "external" } ], "mass": 88755.0, "length": 794, "protein_name": "Protein sel-1 homolog 1", "gene_name": "SEL1L", "organism": "Human", "refseq_name": "protein sel-1 homolog 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001231913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231913", "type": "external" } ], "gene_names_uniprotkb": "SEL1L; PRO1063; TSA305", "gene_names_refseq": "Hrd3; NEDGSAF; NEDHGFA; PRO1063; SEL1-LIKE; SEL1L1; SEL1L", "protein_names_uniprotkb": "Protein sel-1 homolog 1; Sel-1L; Suppressor of lin-12-like protein 1", "protein_names_refseq": "SEL1L adaptor subunit of ERAD E3 ubiquitin ligase; SEL1L, ERAD E3 ligase adaptor subunit; Suppressor of lin 12 (sel-1), C. elegans, homolog of; protein sel-1 homolog 1 isoform 2 precursor; sel-1 suppressor of lin-12-like 1; suppressor of lin-12-like protein 1", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies (MONDO:MONDO:0976130); neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia (MONDO:MONDO:0976131)", "pathway": " (hsa:6400); (R-HSA-1912420); (R-HSA-382556); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5678895); (R-HSA-901032); (R-HSA-9931269)", "pathway_count": 8, "publication_count": 259, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10075724;10366590;10409699;10459009;10484077;10496078;10545110;10665657;10669757;10694380;10746565;10748049;10935626;10935637;10984056;11135303;11146634;11237011;11486055;11504826;11530204;11562789;11707585;11812794;12049766;12379217;12379510;12403779;12604685;12754519;12913004;1295745;12975309;1352877;1356264;1359686;1377674;14661924;15075292;15163793;15175422;15292211;15472518;15611333;15713668;15863492;15899824;16186509;16282375;16335952;16431915;16611729;16816140;16901789;1695717;17126548;17507410;17523162;1764995;17855752;17894550;17977821;18003979;18264092;18282684;18417469;18426978;18434309;18502753;18534984;18711132;18716059;19002207;19081070;19084021;19159218;19346256;19447222;19524542;19570978;19603532;1968359;19701457;19706418;19862647;1998343;20104595;20170518;20197277;20583968;20585641;20621639;21083385;21097675;21257310;2135388;21357747;21652558;22047557;2210768;22178883;22318583;2236053;22869377;23063411;23112049;23232094;23481700;23584533;23719536;23867461;24019521;24029068;24190977;24275569;24397554;24685677;24714562;24715725;2475911;24784881;25066055;25092655;25133187;25418920;25469497;25576301;25584290;25645385;2570070;2570460;25802875;25813380;25880248;25892735;26154972;26208431;26375851;26471130;26728094;26811146;26992070;27452731;27846572;27862975;27920218;28063628;28132103;28218747;28228285;28514659;28827405;28832583;28834231;28904123;2898143;29055231;29242379;29393594;29493099;29508533;29557506;29632046;29741879;29769354;29786170;29789417;29997207;30059200;30118680;30315122;30334692;30334693;30429286;30524438;30779550;31154438;31222486;31679946;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32981041;32983136;33043033;33091337;33141586;33298915;33537174;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34509645;34561969;3457471;3472246;34932366;35051231;35132862;35251023;35254053;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37340703;37938771;37943610;37943617;38226624;38378719;38687642;39455574;40307207;40914422;7523390;7529176;7553863;7553864;7865904;7885476;7918097;7985023;8293978;8681805;8689684;8824192;8896571;9187150;9207795;9244302;9593755;9652413;9653148;9727485;9816258;9831708", "class_list": "", "function": "ER-associated degradation adapter Sel1L is required for CD8[+] T cell function and memory formation following acute viral infection., [RefSeq, PubMed]; Genome-wide screens identify SEL1L as an intracellular rheostat controlling collagen turnover. Publication Status: Online-Only, [RefSeq, PubMed]; Hypomorphic human SEL1L and HRD1 variants uncouple multilayered ER-associated degradation machinery. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16186509, PubMed:29997207, PubMed:37943610, PubMed:37943617). Enhances SYVN1 stability. Plays a role in LPL maturation and secretion. Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells. May play a role in Notch signaling., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Regulation of hepatic inclusions and fibrinogen biogenesis by SEL1L-HRD1 ERAD. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 46, "disease_count": 3, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWT6;Q9P1T9;Q9UHK7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0036513 Derlin-1 retrotranslocation complex;GO:0000836 Hrd1p ubiquitin ligase complex;GO:0000839 Hrd1p ubiquitin ligase ERAD-L complex", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0007219 Notch signaling pathway;GO:0050821 protein stabilization;GO:0009306 protein secretion;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 32.4, "record_id": "Q9UBV2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969M3-1", "uniprot_id": [ { "id": "YIPF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969M3", "type": "external" } ], "mass": 27989.0, "length": 257, "protein_name": "Protein YIPF5", "gene_name": "YIPF5", "organism": "Human", "refseq_name": "protein YIPF5 isoform a", "refseq_ac": [ { "id": "NP_001020118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020118", "type": "external" } ], "gene_names_uniprotkb": "YIPF5; FINGER5; PP12723; PRO10275; SB140; YIP1A", "gene_names_refseq": "FinGER5; MEDS2; SB140; SMAP-5; SMAP5; YIP1A; YIPF5; YIPFalpha1A", "protein_names_uniprotkb": "Protein YIPF5; Five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5; SMAP-5; Smooth muscle cell-associated protein 5; YIP1 family member 5; YPT-interacting protein 1 A", "protein_names_refseq": "YIP1 family member 5; YPT-interacting protein 1 A; five-pass transmembrane protein localizing in the Golgi apparatus and the endoplasmic reticulum 5; golgi membrane protein SB140; protein YIPF5 isoform a; protein YIPF5; smooth muscle cell associated protein 5", "tax_id": 9606, "disease": "azoospermia (Disease Ontology:DOID:14227); microcephaly, epilepsy, and diabetes syndrome 2 (MONDO:MONDO:0025690)", "pathway": " (hsa:81555)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;11489904;12975309;15498874;15592455;15611160;15922870;15990086;23481700;24397554;24715725;25576301;25880248;26992070;27600516;27846572;27862975;27999994;28832583;28904123;29242379;29331515;29393594;29493099;29557506;29632711;29789417;30315122;30429286;30484775;30779550;31154438;31217245;31222486;31844290;31848261;32157095;32350084;32357974;32488085;32502341;32938616;32983136;33123756;33164986;33298915;33592498;33691108;33912179;33981976;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36916000;37217939;37625567;38665916", "class_list": "", "function": "Balanced chromosomal rearrangements implicate YIPF5 and SPATC1L in non-obstructive oligoasthenozoospermia and oligozoospermia and of a derivative chromosome 22 in recurrent miscarriage., [RefSeq, PubMed]; Plays a role in transport between endoplasmic reticulum and Golgi. In pancreatic beta cells, required to transport proinsulin from endoplasmic reticulum into the Golgi (PubMed:33164986)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Vitamin D receptor (VDR) mediates the quiescence of activated hepatic stellate cells (aHSCs) by regulating M2 macrophage exosomal smooth muscle cell-associated protein 5 (SMAP-5)., [RefSeq, PubMed]; YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQF5;Q4VSN6;Q53EX4;Q8NHE5;Q9H338;Q9H3U4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0060628 regulation of ER to Golgi vesicle-mediated transport;GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048280 vesicle fusion with Golgi apparatus;GO:0030070 insulin processing", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q969M3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06703-1", "uniprot_id": [ { "id": "S10A6_HUMAN", "url": "https://www.uniprot.org/uniprot/P06703", "type": "external" } ], "mass": 10180.0, "length": 90, "protein_name": "Protein S100-A6", "gene_name": "S100A6", "organism": "Human", "refseq_name": "protein S100-A6", "refseq_ac": [ { "id": "NP_055439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055439", "type": "external" } ], "gene_names_uniprotkb": "S100A6; CACY", "gene_names_refseq": "2A9; 5B10; CABP; CACY; PRA; S100A6; S10A6", "protein_names_uniprotkb": "Protein S100-A6; Calcyclin; Growth factor-inducible protein 2A9; MLN 4; PRA; Prolactin receptor-associated protein; S100 calcium-binding protein A6", "protein_names_refseq": "MLN 4; calcyclin; growth factor-inducible protein 2A9; prolactin receptor-associated protein; protein S100-A6", "tax_id": 9606, "disease": "", "pathway": " (hsa:6277)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;11937060;12601007;12746458;1482346;17145369;19608861;19615748;19724273;19819244;20188096;22399290;23186163;23481700;2448309;25576301;25645385;26154972;26375851;26768311;26992070;2775283;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30192525;3036810;30429286;30779550;30833945;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33592498;33831707;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34932366;34950858;35051231;35318648;35580925;36010968;36215666;36241641;36284347;3755724;37655980;37759746;37938771;38350547;38665916;38766816;38877413", "class_list": "", "function": "(Microbial infection) Facilitates attachment and invasion of Toxoplasma gondii parasites., [UniProtKB, PubMed]; Interaction of S100A6 Protein with the Four-Helical Cytokines. Publication Status: Online-Only, [RefSeq, PubMed]; Involvement of S100A6/S100A11 in T-Cell Immune Regulatory in HCC Revealed by Single Cell RNA-seq., [RefSeq, PubMed]; May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes such as the reorganization of the actin cytoskeleton and in cell motility. Binds 2 calcium ions. Calcium binding is cooperative., [UniProtKB, PubMed, UniProtKB, UniProtKB]; S100A6 Regulates nucleus pulposus cell apoptosis via Wnt/beta-catenin signaling pathway: an in vitro and in vivo study. Publication Status: Online-Only, [RefSeq, PubMed]; S100A6 drives lymphatic metastasis of liver cancer via activation of the RAGE/NF-kB/VEGF-D pathway., [RefSeq, PubMed]; The S100 calcium-binding protein A6 plays a crucial role in hepatic steatosis by mediating lipophagy. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-dependent insulin release, stimulation of prolactin secretion, and exocytosis. Chromosomal rearrangements and altered expression of this gene have been implicated in melanoma. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DV39;Q5RHS4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding;GO:0044548 S100 protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0007409 axonogenesis;GO:0048146 positive regulation of fibroblast proliferation", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P06703-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HZ7-1", "uniprot_id": [ { "id": "URAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HZ7", "type": "external" } ], "mass": 6513.0, "length": 61, "protein_name": "Putative uncharacterized protein URB1-AS1", "gene_name": "URB1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "URB1-AS1; C21orf119; PRED84", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein URB1-AS1; URB1 antisense RNA 1; URB1 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "32938616;33298915;33968037", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96HZ7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15264-1", "uniprot_id": [ { "id": "MK13_HUMAN", "url": "https://www.uniprot.org/uniprot/O15264", "type": "external" } ], "mass": 42090.0, "length": 365, "protein_name": "Mitogen-activated protein kinase 13", "gene_name": "MAPK13", "organism": "Human", "refseq_name": "mitogen-activated protein kinase 13", "refseq_ac": [ { "id": "NP_002745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002745", "type": "external" } ], "gene_names_uniprotkb": "MAPK13; PRKM13; SAPK4", "gene_names_refseq": "MAPK 13; MAPK-13; MAPK13; PRKM13; SAPK4; p38delta", "protein_names_uniprotkb": "Mitogen-activated protein kinase 13; 2.7.11.24; MAP kinase 13; MAP kinase p38 delta; MAPK 13; Mitogen-activated protein kinase p38 delta; Stress-activated protein kinase 4", "protein_names_refseq": "MAP kinase 13; MAP kinase p38 delta; mitogen-activated protein kinase 13; mitogen-activated protein kinase p38 delta; stress-activated protein kinase 4", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:5603); (R-HSA-168638); (R-HSA-171007); (R-HSA-4420097)", "pathway_count": 4, "publication_count": 118, "publication_id_list": "10037737;10066767;10075701;10201954;10207622;10224040;10329646;10395673;10677529;10692392;10702308;10727080;10744763;10749680;11007481;11087742;11237011;11278486;11378392;11460167;11500363;11695992;11696015;11943212;12134158;12214271;12215529;12391143;12464388;12514169;12527755;12660731;12791997;12796777;12810700;12820653;12917691;14514672;14633987;14724572;15026417;15247219;15308668;15327770;15620648;15632108;15688067;15695828;15962004;16336962;16760434;16966330;17030947;17047224;17199126;17237347;17256148;17293873;17303577;17344846;17496917;17562858;17686471;18006338;18079694;18088087;18367666;19230644;19267251;19369195;19535145;20090411;20300203;20478268;20626350;20658524;21445309;22327215;22689825;23216836;26154972;27846572;27862975;27920218;28228285;28832583;28834231;29242379;29557506;29632711;31217245;31695024;31844290;32502341;32983136;33141586;33968037;34211107;35051231;36284347;7509446;7972015;8617235;8846784;8986718;9099726;9182576;9207191;9218798;9295308;9374491;9393975;9398617;9430721;9472046;9731215;9744859;9790884", "class_list": "", "function": "MKK3 sustains cell proliferation and survival through p38DELTA MAPK activation in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK13 is one of the four p38 MAPKs which play an important role in the cascades of cellular responses evoked by extracellular stimuli such as pro-inflammatory cytokines or physical stress leading to direct activation of transcription factors such as ELK1 and ATF2. Accordingly, p38 MAPKs phosphorylate a broad range of proteins and it has been estimated that they may have approximately 200 to 300 substrates each. MAPK13 is one of the less studied p38 MAPK isoforms. Some of the targets are downstream kinases such as MAPKAPK2, which are activated through phosphorylation and further phosphorylate additional targets. Plays a role in the regulation of protein translation by phosphorylating and inactivating EEF2K. Involved in cytoskeletal remodeling through phosphorylation of MAPT and STMN1. Mediates UV irradiation induced up-regulation of the gene expression of CXCL14. Plays an important role in the regulation of epidermal keratinocyte differentiation, apoptosis and skin tumor development. Phosphorylates the transcriptional activator MYB in response to stress which leads to rapid MYB degradation via a proteasome-dependent pathway. MAPK13 also phosphorylates and down-regulates PRKD1 during regulation of insulin secretion in pancreatic beta cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "O14739;O15124;Q5U4A5;Q6FI46;Q9UNU0", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004707 MAP kinase activity;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0072709 cellular response to sorbitol;GO:0006351 DNA-templated transcription;GO:0006970 response to osmotic stress;GO:0035556 intracellular signal transduction;GO:0032755 positive regulation of interleukin-6 production", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "O15264-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5A9-1", "uniprot_id": [ { "id": "TAFA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5A9", "type": "external" } ], "mass": 14901.0, "length": 133, "protein_name": "Chemokine-like protein TAFA-1", "gene_name": "TAFA1", "organism": "Human", "refseq_name": "chemokine-like protein TAFA-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001239145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239145", "type": "external" } ], "gene_names_uniprotkb": "TAFA1; FAM19A1", "gene_names_refseq": "FAM19A1; TAFA-1; TAFA1", "protein_names_uniprotkb": "Chemokine-like protein TAFA-1", "protein_names_refseq": "chemokine-like protein TAFA-1 isoform 1 precursor; chemokine-like protein TAFA-1; family with sequence similarity 19 (chemokine (C-C motif)-like), member A1; family with sequence similarity 19 member A1, C-C motif chemokine like; protein FAM19A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:407738)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15028294;20664687", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory factor which is ligand for CMKLR2 and is involved in the modulation of neural stem-cell proliferation and differentiation., [UniProtKB, UniProtKB]; This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8K0V3;Q8TCL8", "ec_number_list": [], "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0014016 neuroblast differentiation;GO:0010469 regulation of signaling receptor activity;GO:1902692 regulation of neuroblast proliferation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q7Z5A9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92979-1", "uniprot_id": [ { "id": "NEP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92979", "type": "external" } ], "mass": 26720.0, "length": 244, "protein_name": "Ribosomal RNA small subunit methyltransferase NEP1", "gene_name": "EMG1", "organism": "Human", "refseq_name": "ribosomal RNA small subunit methyltransferase NEP1 isoform 2", "refseq_ac": [ { "id": "NP_001306978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306978", "type": "external" } ], "gene_names_uniprotkb": "EMG1; C2F", "gene_names_refseq": "C2F; EMG1; Grcc2f; NEP1", "protein_names_uniprotkb": "Ribosomal RNA small subunit methyltransferase NEP1; 18S rRNA (pseudouridine(1248)-N1)-methyltransferase; 18S rRNA Psi1248 methyltransferase; 2.1.1.-; Nucleolar protein EMG1 homolog; Protein C2f; Ribosome biogenesis protein NEP1", "protein_names_refseq": "18S rRNA (pseudouridine(1248)-N1)-methyltransferase; 18S rRNA (pseudouridine-N1-)-methyltransferase NEP1; 18S rRNA Psi1248 methyltransferase; EMG1 nucleolar protein homolog; essential for mitotic growth 1; nucleolar essential protein 1; ribosomal RNA small subunit methyltransferase NEP1 isoform 2; ribosomal RNA small subunit methyltransferase NEP1; ribosome biogenesis protein NEP1", "tax_id": 9606, "disease": "Bowen-Conradi syndrome (Disease Ontology:DOID:0050684)", "pathway": " (hsa:10436); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;19007248;19033376;19106111;19332556;19463982;19564402;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24550520;24715725;25411247;25525153;25576301;25653167;25851604;25880248;25969445;26085946;26154972;26196125;26237581;26375851;27084949;27600516;27798105;27846572;27920218;28649982;28832583;28904123;29242379;29331515;29557506;29632711;29786170;30315122;30524438;30779550;31222486;31530632;31844290;32157095;32161166;32350084;32357974;32387766;32502341;32938616;33141586;33214551;33298915;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34211107;34405274;34509645;34516797;34561969;35051231;35251023;35580925;36010968;36215666;36241641;38943975;9074930;9211966;9482744;9512526", "class_list": "", "function": "Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome., [RefSeq, PubMed]; Our findings further indicate that in Bowen-Conradi syndrome, nuclear disassembly of the import complex and release of EMG1D86G lead to its nuclear aggregation and degradation, resulting in the reduced nucleolar recruitment of the RNA methyltransferase and defects in the biogenesis of the small ribosomal subunit., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent pseudouridine N(1)-methyltransferase that methylates pseudouridine at position 1248 (Psi1248) in 18S rRNA. Involved the biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA. Is not able to methylate uridine at this position (PubMed:20047967). Also has an essential role in 40S ribosomal subunit biogenesis independent on its methyltransferase activity, facilitating the incorporation of ribosomal protein S19 during the formation of pre-ribosomes (By similarity). 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, UniProtKB, PubMed]; The role of EMG1 in lung adenocarcinoma progression: Implications for prognosis and immune cell infiltration., [RefSeq, PubMed]; This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00675;O00726", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0019843 rRNA binding;GO:0070037 rRNA (pseudouridine) methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0032040 small-subunit processome", "go_biological_process": "GO:0006364 rRNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA;GO:0070475 rRNA base methylation", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q92979-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14832-1", "uniprot_id": [ { "id": "PAHX_HUMAN", "url": "https://www.uniprot.org/uniprot/O14832", "type": "external" } ], "mass": 38538.0, "length": 338, "protein_name": "Phytanoyl-CoA dioxygenase, peroxisomal", "gene_name": "PHYH", "organism": "Human", "refseq_name": "phytanoyl-CoA dioxygenase, peroxisomal isoform b", "refseq_ac": [ { "id": "NP_001032626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626", "type": "external" } ], "gene_names_uniprotkb": "PHYH; PAHX", "gene_names_refseq": "LN1; LNAP1; PAHX; PHYH1; PHYH; RD", "protein_names_uniprotkb": "Phytanoyl-CoA dioxygenase, peroxisomal; 1.14.11.18; PhyH; Phytanic acid oxidase; Phytanoyl-CoA alpha-hydroxylase", "protein_names_refseq": "phytanic acid oxidase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA 2 oxoglutarate dioxygenase; phytanoyl-CoA alpha-hydroxylase; phytanoyl-CoA dioxygenase, peroxisomal isoform b; phytanoyl-CoA dioxygenase, peroxisomal", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Refsum disease (Disease Ontology:DOID:10582); Zellweger syndrome (Disease Ontology:DOID:905); peroxisomal disease (Disease Ontology:DOID:906)", "pathway": " (hsa:5264); (R-HSA-389599); (R-HSA-9033241); (R-HSA-9033500)", "pathway_count": 4, "publication_count": 111, "publication_id_list": "10022913;10051602;10198260;10468558;10562279;10673331;10686344;10709665;10744784;10767344;10811639;11101887;11237011;11546814;11555634;11781871;11931631;12031666;12445829;12456682;12559034;12578380;12717447;12885776;12923223;14974078;15545321;15858711;15930519;16186124;16546181;16756494;16766224;16854980;17007944;17726030;18359941;18712838;19197237;19208625;19584060;19632994;20178365;20558530;21554508;21976670;21980954;22002062;22057399;22371489;22747494;23963456;24235149;24275569;24865970;25016021;25538232;25576301;25854684;25892735;26086376;26138649;26220973;26344566;26811146;26992070;27535533;27597759;27846572;28521612;28611990;28765278;28787099;28904123;29493099;29557506;31844290;32157095;32265295;32387766;32488085;32502341;32938616;33298915;33468235;33592498;33912179;33968037;34171305;34509645;36010968;36284347;38411969;7719337;7790377;8824437;8858165;8991089;9089413;9090381;9090382;9090383;9166898;9326939;9326940;9539740;9653144;9662422;9668159;9837948;9874197", "class_list": "", "function": "Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:10744784, PubMed:12031666, PubMed:12923223, PubMed:9326939). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Demonstrate that both unprocessed and processed forms are able to hydroxylate a range of CoA derivatives; site-directed mutagenesis was used to support proposals for the identity of the iron binding istes of PAHX, [RefSeq, PubMed]; PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease., [RefSeq, PubMed]; Prognostic role of PHYH for overall survival (OS) in clear cell renal cell carcinoma (ccRCC). Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "A8MTS8;B1ALH5", "ec_number_list": [ { "id": "2.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.26", "type": "external" }, { "id": "1.14.11.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.18", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0031406 carboxylic acid binding;GO:0008198 ferrous iron binding;GO:0031418 L-ascorbic acid binding;GO:0048244 phytanoyl-CoA dioxygenase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0097731 9+0 non-motile cilium", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0001561 fatty acid alpha-oxidation;GO:0006720 isoprenoid metabolic process;GO:0097089 methyl-branched fatty acid metabolic process;GO:0019606 2-oxobutyrate catabolic process", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "O14832-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVS5-1", "uniprot_id": [ { "id": "TR61B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVS5", "type": "external" } ], "mass": 52965.0, "length": 477, "protein_name": "tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial", "gene_name": "TRMT61B", "organism": "Human", "refseq_name": "tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_060380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060380", "type": "external" } ], "gene_names_uniprotkb": "TRMT61B", "gene_names_refseq": "TRMT61B", "protein_names_uniprotkb": "tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial; 2.1.1.-; 2.1.1.220; mRNA methyladenosine-N(1)-methyltransferase", "protein_names_refseq": "mRNA methyladenosine-N(1)-methyltransferase; potential tRNA (adenine(58)-N(1))-methyltransferase catalytic subunit TRMT61B; potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B; tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial precursor; tRNA (adenine(58)-N(1))-methyltransferase, mitochondrial; tRNA methyltransferase 61 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55006); (R-HSA-6787450); (R-HSA-9937008)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "11230166;11237011;12456664;15509579;15769737;16826519;18083837;19732863;21292163;21890497;22608499;23042678;23097428;23625533;23814040;23929671;24126054;24901367;25008111;25552653;25925575;27184847;27631568;27974379;28228285;29072297;29107537;29390138;29393594;29760464;31477916;31844290;32047918;32161166;33298915;33968037;37531210;9512533", "class_list": "", "function": "16S rRNA RNA-DNA differences result from a 1-methyladenosine (m1A) modification introduced by TRMT61B. Erratum:[PLoS Biol. 2017 Jan 19;15(1):e1002594. doi: 10.1371/journal.pbio.1002594. PMID: 28103231] Publication Status: Online-Only, [RefSeq, PubMed]; Methyltransferase that catalyzes the formation of N(1)-methyladenine at position 58 (m1A58) in various tRNAs in mitochondrion, including tRNA(Leu) (deciphering codons UUA or UUG), tRNA(Lys) and tRNA(Ser) (deciphering codons UCA, UCU, UCG or UCC) (PubMed:23097428). Catalyzes the formation of 1-methyladenosine at position 947 of mitochondrial 16S ribosomal RNA and this modification is most likely important for mitoribosomal structure and function (PubMed:27631568). In addition to tRNA N(1)-methyltransferase activity, also acts as a mRNA N(1)-methyltransferase by mediating methylation of adenosine residues at the N(1) position of MT-ND5 mRNA, leading to interfere with mitochondrial translation (PubMed:29107537)., [UniProtKB, PubMed, PubMed, PubMed]; TRMT61B rs4563180 G>C variant reduces hepatoblastoma risk: a case-control study of seven medical centers., [RefSeq, PubMed]; Unlike the cytoplasmic tRNA m(1)A58 methyltransferase that consists of an alpha2beta2 heterotetramer formed by Trmt61A and Trmt6, Trmt61B formed a homo-oligomer (presumably a homotetramer) that resembled the bacterial homotetrameric m(1)A58 methyltransferase., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q9H0Q9;Q9NWS7", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.218", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.218", "type": "external" }, { "id": "2.1.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.221", "type": "external" }, { "id": "2.1.1.220", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.220", "type": "external" } ], "go_molecular_function": "GO:0016433 rRNA (adenine) methyltransferase activity;GO:0061953 mRNA (adenine-N1-)-methyltransferase activity;GO:0160107 tRNA (adenine(58)-N1)-methyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031515 tRNA (m1A) methyltransferase complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0030488 tRNA methylation;GO:0090646 mitochondrial tRNA processing", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9BVS5-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12952-1", "uniprot_id": [ { "id": "FOXL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12952", "type": "external" } ], "mass": 36490.0, "length": 345, "protein_name": "Forkhead box protein L1", "gene_name": "FOXL1", "organism": "Human", "refseq_name": "forkhead box protein L1", "refseq_ac": [ { "id": "NP_005241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005241", "type": "external" } ], "gene_names_uniprotkb": "FOXL1; FKHL11; FREAC7", "gene_names_refseq": "FKH6; FKHL11; FOXL1; FREAC7; OTSC11", "protein_names_uniprotkb": "Forkhead box protein L1; FREAC-7; Forkhead-related protein FKHL11; Forkhead-related transcription factor 7", "protein_names_refseq": "forkhead box protein L1; forkhead-like 11; forkhead-related protein FKHL11; forkhead-related transcription factor 7", "tax_id": 9606, "disease": "otosclerosis 11 (Disease Ontology:DOID:0060928); open-angle glaucoma (Disease Ontology:DOID:1067); osteoporosis (Disease Ontology:DOID:11476); allergic disease (Disease Ontology:DOID:1205); otosclerosis (Disease Ontology:DOID:12185); diffuse scleroderma (Disease Ontology:DOID:1580); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cervical cancer (Disease Ontology:DOID:4362); rhinitis (Disease Ontology:DOID:4483); schizophrenia (Disease Ontology:DOID:5419); reactive arthritis (Disease Ontology:DOID:6196); ankylosing spondylitis (Disease Ontology:DOID:7147); extrinsic allergic alveolitis (Disease Ontology:DOID:841); psoriasis (Disease Ontology:DOID:8893); bronchiectasis (Disease Ontology:DOID:9563); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:2300)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11078474;11237011;18564921;20198651;29557506;29789417;30429286;31844290;32161166;32502341;32794109;32946266;33045131;33091337;33968037;34076998;34633540;35051231;36284347;7957066", "class_list": "", "function": "A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene., [RefSeq, PubMed]; FOXL1 Regulates Lung Fibroblast Function via Multiple Mechanisms., [RefSeq, PubMed]; MiR-1471 protects the aggravation of non-small-cell lung carcinoma by targeting FOXL1. Erratum:[Biofactors. 2023 Jan;49(1):187. doi: 10.1002/biof.1790. PMID: 34787347], [RefSeq, PubMed]; NTF4 stimulates the progression of gastric cancer via regulating FOXL1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Prognostic Significances of NEDD-9 and FOXL-1 Expression in Intestinal Type Gastric Carcinoma: an Immunohistochemical Study., [RefSeq, PubMed]; This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]., [RefSeq]; Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 and GLI3 transcription factors (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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q17RR1;Q9H242", "ec_number_list": [], "go_molecular_function": "GO:0008301 DNA binding, bending;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0007495 visceral mesoderm-endoderm interaction involved in midgut development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007507 heart development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q12952-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59768-1", "uniprot_id": [ { "id": "GBG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P59768", "type": "external" } ], "mass": 7850.0, "length": 71, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2", "gene_name": "GNG2", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor", "refseq_ac": [ { "id": "NP_001230702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230702", "type": "external" } ], "gene_names_uniprotkb": "GNG2", "gene_names_refseq": "GNG2; HG3F1", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2; G gamma-I", "protein_names_refseq": "g gamma-I; guanine nucleotide binding protein (G protein), gamma 2; guanine nucleotide binding protein gamma 2; guanine nucleotide-binding protein G(I)/G(O) gamma-2 subunit; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 precursor; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2; heterotrimeric guanine nucleotide-binding protein 3F1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:54331); (R-HSA-1296041); (R-HSA-163359); (R-HSA-202040); (R-HSA-381676); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 30, "publication_count": 501, "publication_id_list": "10191087;10215864;10318832;10319328;10322410;10376603;10380924;10391246;10391247;10395542;10427092;10449730;10488343;10496952;10567430;10588714;10634944;10639123;10649434;10698200;10714768;10727532;10749889;10759852;10764742;10777564;10806474;10833460;10858654;10861009;10948191;10954748;11007482;11015615;11029009;11029403;11030334;11034202;11043579;11044445;11060443;11071853;11076974;11185956;11196645;11237011;11283606;11294240;11313909;11313914;11369763;11563835;11689445;11698416;11742120;11753430;11773440;11773442;11773443;11786497;11825873;11853546;11946536;11968001;11981029;12015605;12034449;12036966;12048194;12058044;12086864;12101119;12106601;12120503;12123608;12167717;12176338;12180353;12180908;12194985;12388769;12401793;12410638;12421825;12431978;12433842;12446735;12471263;12475787;12482967;12496249;12507995;12511868;12515866;12556497;12560222;12588983;12682286;12724311;12729560;12801959;12808053;12860470;12881510;12887923;12938160;12975316;1325798;1333056;1347957;13549488;13680124;1373524;1378832;14514350;14514735;14573771;14592814;14671004;14675202;14701836;14704854;14742685;14764897;14977528;14988243;15033483;15044318;15090535;1510932;1517224;15231873;15245432;15304325;15314172;1534149;15464082;15467163;15471943;15494017;15496458;15539556;15545263;15569269;15569929;15611108;15657067;15699075;15703994;15705661;15705806;15718470;15749160;15765929;15769620;15889144;15951850;15955806;15956360;15980156;15995848;16102047;16120822;16182515;16212421;16212495;16239258;16268778;16274718;16313925;16339447;16352729;16371464;16373322;16407073;16407156;16415903;16418336;1645720;16460020;16580177;16613879;16634148;16636149;16645038;16687412;16702223;16717095;1672265;16754659;16780920;16835357;16880514;16892066;16920709;16923326;16973695;17037979;17095603;17156409;17168849;17178220;17185339;17306374;17379646;1739432;17424910;17426020;17444618;17525128;17535799;17545310;17684012;17900700;17916740;17921256;18044684;18162464;18202100;18202181;18206197;1825698;18287102;18374420;18412318;18434541;18456304;18488142;1849000;18511455;1851174;18515384;18566127;18577758;18611381;18657504;18678926;18710921;18936096;19020623;1905813;19105585;19138696;19144687;19170255;19177143;19212140;19258039;19342380;19342448;19376773;19383790;1939224;19536106;19574955;19713215;19715408;19723632;19741198;19851316;19859570;19861722;19876791;19879889;19929708;19931550;20007474;20381629;20439495;20453851;20650261;20655490;20670195;20861220;21036126;21118996;21172430;2163110;21680538;21844907;21851428;21903638;22028449;22031296;22266855;22446104;22480736;22495674;22661716;22941947;23151663;23256519;23416699;23632248;23637185;23863937;23904219;24039841;2417744;24273487;24530924;24687066;2474350;2491850;24962572;2534964;25414122;2553411;2553705;25587652;25659125;25675501;26190834;26308095;26417854;26590425;26987903;26992070;27072905;27288742;27392633;2748346;27566546;27797339;28219978;2826231;2834384;2841328;28450397;28502923;28539435;28595943;2871555;28832583;28834231;29242379;29443750;29557506;29602314;29632711;29738483;2991279;29925951;30007591;3049610;30833991;3086311;3104109;31205027;3127824;31279028;31399091;3141418;31844290;31848261;31983287;32157095;32226383;32296767;32350084;32497535;32540603;32618402;32639031;32715661;33049737;33298915;33592498;33717175;33762731;33828102;34212982;34239069;34499618;35027551;35061538;35418677;35418678;35418679;35418682;35501348;35580925;35610220;35714614;35835867;35982227;36087581;36171289;36989299;37327704;37935376;37935377;37963465;38168118;38552625;38600377;38776963;3899557;39103320;39833471;4065330;6085243;6192430;6745415;7503232;7510718;7512962;7514139;7526388;7526779;7532011;7535000;7538665;7559455;7567982;7568118;7589426;7589461;7595566;7624799;7641683;7651538;7678419;7680413;7700244;7750475;7811244;7876172;7902709;7937899;8007951;8015379;8063828;8073283;8099279;8138058;8140421;8144028;8208289;8277227;8290554;8340388;8390245;8404634;8405712;8406495;8514797;8521505;8522976;8527267;8554519;8598224;8617235;8621513;8662784;8664309;8672451;8683474;8700127;8702633;8733591;8778232;8782602;8816443;8830891;8855281;8876252;8910365;8982657;8997178;9073455;9087410;9152406;9153422;9173876;9227644;9263355;9305846;9308960;9369468;9374639;9374640;9389482;9395517;9417641;9488697;9544801;9565625;9616126;9618465;9620797;9651336;9707174;9756892;9760042;9770463;9796816;9829975;9920805;9924018;9990065", "class_list": "", "function": "Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interference with KCNJ2 inhibits proliferation, migration and EMT progression of apillary thyroid carcinoma cells by upregulating GNG2 expression., [RefSeq, PubMed]; This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5JPE2;Q6P9A9", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0071380 cellular response to prostaglandin E stimulus;GO:0071870 cellular response to catecholamine stimulus;GO:0007191 adenylate cyclase-activating dopamine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 50.2, "record_id": "P59768-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RJ6-1", "uniprot_id": [ { "id": "FER3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RJ6", "type": "external" } ], "mass": 19017.0, "length": 166, "protein_name": "Fer3-like protein", "gene_name": "FERD3L", "organism": "Human", "refseq_name": "fer3-like protein", "refseq_ac": [ { "id": "NP_690862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690862", "type": "external" } ], "gene_names_uniprotkb": "FERD3L; BHLHA31; NATO3; NTWIST", "gene_names_refseq": "FERD3L; N-TWIST; NATO3; NTWIST; PTFB; bHLHa31", "protein_names_uniprotkb": "Fer3-like protein; Basic helix-loop-helix protein N-twist; Class A basic helix-loop-helix protein 31; Nephew of atonal 3; Neuronal twist; bHLHa31", "protein_names_refseq": "basic helix-loop-helix protein N-twist; class A basic helix-loop-helix protein 31; fer3-like protein; nephew of atonal 3; neuronal twist; pancreas-specific transcription factor b", "tax_id": 9606, "disease": "", "pathway": " (hsa:222894)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11472856;12217327;16959974;30919159", "class_list": "", "function": "Identification and genomic structure of Nato3 in fly, mouse and man. Nervous system expression detected in fly and mouse., [RefSeq, PubMed]; The risk allele Rs10230207 for patients with intracranial aneurysm is not associated with changes in FERD3L gene expression, but is associated with increased HDAC9 and decrease in TWIST1 mRNA expression, [RefSeq, PubMed]; Transcription factor that binds to the E-box and functions as inhibitor of transcription. DNA binding requires dimerization with an E protein. Inhibits transcription activation by ASCL1/MASH1 by sequestering E proteins (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": 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": "Q495K0", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0032502 developmental process", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96RJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y337-1", "uniprot_id": [ { "id": "KLK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y337", "type": "external" } ], "mass": 32020.0, "length": 293, "protein_name": "Kallikrein-5", "gene_name": "KLK5", "organism": "Human", "refseq_name": "kallikrein-5 preproprotein", "refseq_ac": [ { "id": "NP_001070959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070959", "type": "external" } ], "gene_names_uniprotkb": "KLK5; PRO1132; SCTE", "gene_names_refseq": "KLK-L2; KLK5; KLKL2; SCTE", "protein_names_uniprotkb": "Kallikrein-5; 3.4.21.-; KLK-L2; Kallikrein-like protein 2; Stratum corneum tryptic enzyme", "protein_names_refseq": "kallikrein-5 preproprotein; kallikrein-5; kallikrein-like protein 2; stratum corneum tryptic enzyme", "tax_id": 9606, "disease": "", "pathway": " (hsa:25818); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;10066784;10196183;10231017;10411887;10514489;10588656;10652563;10771479;11054574;11237011;11350120;11380615;11590230;12067728;12624109;12902340;12975309;15033990;15140226;15234001;15337775;15361712;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16639001;17330888;17515931;17562024;17596512;17881000;18843291;19190773;19194479;19924134;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;23090970;23283814;23629652;24190977;24794495;25926655;26340985;26390218;28224083;29393594;29741879;30397120;30833945;30905808;31399284;34171305;34582061;35487308;35595569;37666089;39163389;39531497;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Genome-wide association study identifies kallikrein 5 in type 2 inflammation-low asthma., [RefSeq, PubMed]; KLK5 is associated with the radioresistance, aggression, and progression of cervical cancer., [RefSeq, PubMed]; Kallikrein-related peptidase 5 contributes to the remodeling and repair of bronchial epithelium., [RefSeq, PubMed]; Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its expression is up-regulated by estrogens and progestins. The encoded protein is secreted and may be involved in desquamation in the epidermis. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; May be involved in desquamation., [UniProtKB]; MiR-107-3p Knockdown Alleviates Endothelial Injury in Sepsis via Kallikrein-Related Peptidase 5., [RefSeq, PubMed]; The host protease KLK5 primes and activates spike proteins to promote human betacoronavirus replication and lung inflammation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A0A024R4G4;Q53ZR3;Q9HBG8", "ec_number_list": [ { "id": "3.4.21.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.118", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.21.117", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.117", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.21.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.109", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0030141 secretory granule;GO:0097209 epidermal lamellar body", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0045745 positive regulation of G protein-coupled receptor signaling pathway;GO:0008544 epidermis development;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9Y337-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60262-1", "uniprot_id": [ { "id": "GBG7_HUMAN", "url": "https://www.uniprot.org/uniprot/O60262", "type": "external" } ], "mass": 7522.0, "length": 68, "protein_name": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7", "gene_name": "GNG7", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7", "refseq_ac": [ { "id": "NP_443079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443079", "type": "external" } ], "gene_names_uniprotkb": "GNG7; GNGT7", "gene_names_refseq": "GNG7; HG3B", "protein_names_uniprotkb": "Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7", "protein_names_refseq": "guanine nucleotide binding protein (G protein), gamma 7; guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-7; heterotrimeric guanine nucleotide-binding protein 3B", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2788); (R-HSA-1296041); (R-HSA-163359); (R-HSA-202040); (R-HSA-381676); (R-HSA-392170); (R-HSA-392451); (R-HSA-392851); (R-HSA-400042); (R-HSA-4086398); (R-HSA-416476); (R-HSA-416482); (R-HSA-418217); (R-HSA-418555); (R-HSA-418592); (R-HSA-418594); (R-HSA-418597); (R-HSA-420092); (R-HSA-428930); (R-HSA-432040); (R-HSA-456926); (R-HSA-500657); (R-HSA-6814122); (R-HSA-8964315); (R-HSA-8964616); (R-HSA-9009391); (R-HSA-9634597); (R-HSA-9660821); (R-HSA-9856530); (R-HSA-997272)", "pathway_count": 30, "publication_count": 474, "publication_id_list": "10191087;10215864;10318832;10319328;10322410;10376603;10380924;10391246;10391247;10395542;10427092;10449730;10488343;10496952;10567430;10588714;10634944;10639123;10649434;10698200;10714768;10727532;10749889;10759852;10764742;10777564;10806474;10858654;10861009;10948191;10954748;11007482;11015615;11029009;11029403;11030334;11034202;11043579;11044445;11060443;11071853;11076974;11185956;11196645;11237011;11283606;11294240;11313909;11313914;11369763;11563835;11689445;11698416;11742120;11753430;11773440;11773442;11773443;11786497;11825873;11853546;11946536;11968001;11981029;12015605;12034449;12036966;12048194;12058044;12086864;12101119;12106601;12120503;12123608;12167717;12176338;12180353;12180908;12194985;12388769;12401793;12410638;12421825;12431978;12433842;12446735;12471263;12475787;12482967;12496249;12507995;12511868;12515866;12556497;12560222;12588983;12682286;12724311;12729560;12801959;12808053;12860470;12881510;12887923;12938160;12975316;1325798;1333056;1347957;13549488;13680124;1373524;1378832;14514350;14514735;14573771;14592814;14671004;14675202;14701836;14704854;14742685;14764897;14977528;14988243;15033483;15044318;15090535;1510932;1517224;15231873;15245432;15304325;15314172;1534149;15464082;15467163;15471943;15494017;15496458;15539556;15545263;15569269;15569929;15611108;15657067;15699075;15703994;15705661;15705806;15718470;15749160;15765929;15769620;15889144;15951850;15955806;15956360;15980156;15995848;16102047;16120822;16182515;16212421;16212495;16239258;16268778;16274718;16313925;16339447;16352729;16371464;16373322;16407073;16407156;16415903;16418336;1645720;16460020;16580177;16613879;16634148;16636149;16645038;16687412;16702223;16717095;1672265;16754659;16780920;16835357;16880514;16892066;16920709;16923326;16973695;17037979;17095603;17156409;17168849;17178220;17185339;17306374;17379646;1739432;17424910;17426020;17444618;17525128;17535799;17545310;17684012;17900700;17916740;17921256;18044684;18162464;18202100;18202181;18206197;18219292;1825698;18287102;18374420;18412318;18434541;18456304;18488142;1849000;18511455;1851174;18515384;18566127;18577758;18657504;18678926;18710921;18936096;19020623;1905813;19105585;19138696;19144687;19170255;19177143;19212140;19258039;19342380;19342448;19376773;19383790;1939224;19536106;19574955;19715408;19723632;19741198;19851316;19859570;19861722;19876791;19879889;19929708;19931550;20007474;20381629;20439495;20453851;20650261;20655490;20670195;20861220;21036126;21118996;21172430;2163110;21680538;21844907;21851428;21903638;22028449;22031296;22266855;22446104;22480736;22495674;22661716;22941947;23151663;23256519;23416699;23632248;23637185;23863937;23904219;24039841;2417744;24273487;24530924;24687066;2474350;2491850;24962572;2534964;25414122;2553411;2553705;25576301;25587652;25659125;25675501;26190834;26308095;26417854;26590425;26811146;26987903;26992070;27072905;27288742;27392633;2748346;27566546;27797339;2826231;2834384;2841328;28450397;28502923;28539435;28595943;2871555;28832583;28834231;29242379;29314611;29443750;29557506;29602314;29632046;29738483;2991279;30007591;30429286;3049610;30833991;3086311;3104109;31205027;3127824;31279028;31399091;3141418;31848261;31983287;31998317;32226383;32296767;32497535;32540603;32618402;32639031;32715661;33049737;33864871;34499618;34635014;34650124;35154160;35240924;36863706;3899557;4065330;6085243;6192430;6745415;7503232;7510718;7512962;7514139;7526388;7526779;7532011;7535000;7538665;7559455;7567982;7568118;7589426;7589461;7595566;7624799;7641683;7651538;7678419;7680413;7700244;7750475;7811244;7876172;7902709;7937899;8007951;8015379;8063828;8073283;8099279;8138058;8140421;8144028;8208289;8277227;8290554;8340388;8390245;8404634;8405712;8406495;8514797;8521505;8522976;8527267;8554519;8598224;8617235;8621513;8662784;8664309;8672451;8683474;8700127;8702633;8733591;8778232;8782602;8816443;8830891;8855281;8876252;8910365;8982657;8997178;9073455;9087410;9152406;9153422;9173876;9227644;9263355;9305846;9308960;9369468;9374639;9374640;9389482;9395517;9417641;9488697;9544801;9565625;9600093;9616126;9618465;9620797;9651336;9707174;9756892;9760042;9770463;9796816;9829975;9920805;9924018;9990065", "class_list": "", "function": "G protein gamma 7 suppresses progression of lung adenocarcinoma by inhibiting E2F transcription factor 1., [RefSeq, PubMed]; GNG7 and ADCY1 as diagnostic and prognostic biomarkers for pancreatic adenocarcinoma through bioinformatic-based analyses. Publication Status: Online-Only, [RefSeq, PubMed]; GNG7 suppression represents a new prognostic indicator in cases of oesophageal cancer., [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Plays a role in the regulation of adenylyl cyclase signaling in certain regions of the brain. Plays a role in the formation or stabilization of a G protein heterotrimer (G(olf) subunit alpha-beta-gamma-7) that is required for adenylyl cyclase activity in the striatum (By similarity)., [UniProtKB]; Identification of GNG7 as a novel biomarker and potential therapeutic target for gastric cancer via bioinformatic analysis and in vitro experiments., [RefSeq, PubMed]; Long non-coding RNA LINC00472 inhibits oral squamous cell carcinoma via miR-4311/GNG7 axis., [RefSeq, PubMed]; MicroRNA miR-19b-3p mediated G protein gamma subunit 7 (GNG7) loss contributes lung adenocarcinoma progression through activating Hedgehog 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": 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": "B2R496", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0005834 heterotrimeric G-protein complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 47.5, "record_id": "O60262-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Z4-1", "uniprot_id": [ { "id": "SYYM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Z4", "type": "external" } ], "mass": 53199.0, "length": 477, "protein_name": "Tyrosine--tRNA ligase, mitochondrial", "gene_name": "YARS2", "organism": "Human", "refseq_name": "tyrosine--tRNA ligase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001035526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035526", "type": "external" } ], "gene_names_uniprotkb": "YARS2; CGI-04", "gene_names_refseq": "CGI-04; MLASA2; MT-TYRRS; TYRRS; YARS2", "protein_names_uniprotkb": "Tyrosine--tRNA ligase, mitochondrial; 6.1.1.1; TyrRS; Tyrosyl-tRNA synthetase", "protein_names_refseq": "tyrosine tRNA ligase 2, mitochondrial; tyrosine--tRNA ligase, mitochondrial precursor; tyrosine--tRNA ligase, mitochondrial; tyrosyl-tRNA synthetase 2, mitochondrial", "tax_id": 9606, "disease": "myopathy, lactic acidosis, and sideroblastic anemia 2 (Disease Ontology:DOID:0111186)", "pathway": " (hsa:51067); (R-HSA-379726)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;15840810;16300924;17384640;17672918;17847012;17997975;19608861;20598274;22504945;25418920;25892735;26811146;28904123;29242379;29393594;29605689;29632046;30006346;30379171;31685661;31844290;31848261;32387766;33141586;33592498;33912179;34211107;34229054;34357683;34725712;35051231;36154909;36215666;36611011;40596516;7755634;8078941;9278442;9466989", "class_list": "", "function": "Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr)., [UniProtKB, PubMed, PubMed]; Findings provide molecular-level insights into the pathophysiology of maternally transmitted deafness arising from the synergy between tRNA(Ser(UCN)) and mitochondrial YARS mutations, [RefSeq, PubMed]; First example of a TyrRS lacking specificity toward N1-N72 and thus of a TyrRS disobeying the identity rules, [RefSeq, PubMed]; Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy., [RefSeq, PubMed]; Targeting mitochondrial tyrosyl-tRNA synthetase YARS2 suppresses colorectal cancer progression., [RefSeq, PubMed]; The YARS2 mutation reported here is an alternative cause of MLASA., [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 5 is discussed, [RefSeq, PubMed]; The gene for mitochondrial tyrosyl-tRNA synthetase is described and the initial characterization of the enzyme is reported. Genes for the remaining missing synthetases have also been found with the exception of human glutaminyl-tRNA synthetase., [RefSeq, PubMed]; The structure of a strictly mitochondrial human synthetase, namely tyrosyl-tRNA synthetase (mt-TyrRS), in complex with an adenylate analog at 2.2 A resolution, [RefSeq, PubMed]; This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DUW8;Q9H817", "ec_number_list": [ { "id": "6.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.1", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0000049 tRNA binding;GO:0072545 L-tyrosine binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0070184 mitochondrial tyrosyl-tRNA aminoacylation;GO:0006412 translation;GO:0043039 tRNA aminoacylation;GO:0006437 tyrosyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9Y2Z4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C0S5-1", "uniprot_id": [ { "id": "H2AZ_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C0S5", "type": "external" } ], "mass": 13553.0, "length": 128, "protein_name": "Histone H2A.Z", "gene_name": "H2AZ1", "organism": "Human", "refseq_name": "histone H2A.Z", "refseq_ac": [ { "id": "NP_002097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002097", "type": "external" } ], "gene_names_uniprotkb": "H2AZ1; H2AFZ; H2AZ", "gene_names_refseq": "H2A.Z-1; H2A.z; H2A/z; H2AFZ; H2AZ1; H2AZ", "protein_names_uniprotkb": "Histone H2A.Z; H2A/z", "protein_names_refseq": "H2A histone family member Z; H2AZ histone; histone H2A.Z", "tax_id": 9606, "disease": "", "pathway": " (hsa:3015); (R-HSA-977225); (R-HSA-9970672)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;1066663;10956649;11101893;11204562;11237011;11278841;11401442;11467836;11590439;11830581;11835281;118839;11986212;12454989;1270801;12944405;14506261;14567678;14691562;15064394;15878876;15962837;16174740;16319397;16457589;16627869;16799559;1697587;17425515;18065497;18070888;1837051;18449172;18484335;1849145;19011241;19608861;19658395;19828817;20473270;20676056;20807650;2118650;21544310;21896475;2195544;22065755;22121020;22131221;23324626;23813966;2409350;24463511;24715725;24833601;24893886;25367160;25523424;25810538;26018760;26154972;26237645;26417681;26668317;26686862;26807092;26811146;26974126;26992070;27846572;27862975;279930;28645917;2900981;29393594;29493099;29557506;30327463;3035556;3053705;3080684;3094007;31217245;3142462;31527837;31645732;31844290;32295785;32350084;32357974;32387766;32488085;32522876;3344202;33981976;3484703;34961760;36215666;36284347;36368958;36470770;36482739;3675579;37684630;37938771;38305811;38665916;3886654;4054110;500690;6604055;7391081;7734418;8033412;8097946;8114934;8159701;8195709;8464497;8490014;8710908;874082;8870004;9006323;9054935;9427705;9862427", "class_list": "", "function": "Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]., [RefSeq]; Identification and validation of an H2AZ1-based index model: a novel prognostic tool for hepatocellular carcinoma., [RefSeq, PubMed]; Interplay Between the Histone Variant H2A.Z and the Epigenome in Pancreatic Cancer., [RefSeq, PubMed]; MicroRNA-455-3p accelerate malignant progression of tumor by targeting H2AFZ in colorectal cancer., [RefSeq, PubMed]; SENP5 promotes homologous recombination-mediated DNA damage repair in colorectal cancer cells through H2AZ deSUMOylation. Publication Status: Online-Only, [RefSeq, PubMed]; The H2A.Z-KDM1A complex promotes tumorigenesis by localizing in the nucleus to promote SFRP1 promoter methylation in cholangiocarcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. 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. May be involved in the formation of constitutive heterochromatin. May be required for chromosome segregation during cell division., [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": 7, "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": "B2RD56;P17317;Q6I9U0", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding;GO:0031490 chromatin DNA binding;GO:0031492 nucleosomal DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000791 euchromatin;GO:0000792 heterochromatin", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006325 chromatin organization;GO:0071392 cellular response to estradiol stimulus;GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P0C0S5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5RKV6-1", "uniprot_id": [ { "id": "EXOS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5RKV6", "type": "external" } ], "mass": 28235.0, "length": 272, "protein_name": "Exosome complex component MTR3", "gene_name": "EXOSC6", "organism": "Human", "refseq_name": "exosome complex component MTR3", "refseq_ac": [ { "id": "NP_478126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_478126", "type": "external" } ], "gene_names_uniprotkb": "EXOSC6; MTR3", "gene_names_refseq": "EAP4; EXOSC6; MTR3; Mtr3p; hMtr3p; p11", "protein_names_uniprotkb": "Exosome complex component MTR3; Exosome component 6; hMtr3; mRNA transport regulator 3 homolog; p11", "protein_names_refseq": "Mtr3 (mRNA transport regulator 3)-homolog; exosome complex component MTR3; exosome complex exonuclease MTR3; homolog of yeast mRNA transport regulator 3; mRNA transport regulator 3 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:118460); (R-HSA-380994); (R-HSA-429958); (R-HSA-450385); (R-HSA-450513); (R-HSA-450604); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 8, "publication_count": 194, "publication_id_list": "10330172;10958673;11283721;11719186;11922599;12068309;12150911;12198173;12324455;12419256;12639954;12646273;12705825;12748283;14688255;14742429;14749774;14976220;15014438;15068804;15117938;15175153;15231747;15273322;15385533;15475613;15514971;15538381;15687258;15769464;15944294;16037817;16043514;16141059;16262601;16364914;16648466;16687408;16738141;16912112;16931790;16989641;17030608;17074750;17133347;17174896;17189298;17245413;17353269;17369404;17412707;17545563;18065403;18285520;18289715;18326031;18367721;18438418;18441014;18481987;18684992;18840095;19060886;19106111;19141871;19198587;19225159;19239894;19332556;19564402;19729507;19801658;19854161;20022965;20038530;20056613;20361218;20531386;20531389;20798176;20805244;20819938;21036871;21063389;21097556;21255825;21705430;21855801;22072790;22190735;22195017;22424782;22802018;22819556;22916032;22978410;23223233;23269699;23301498;23439679;23481700;23482395;2388630;24424021;24550520;24715725;25418920;25525153;25576301;25578728;25645385;25969445;26154972;26237581;26375851;2663993;2664463;26811146;26929215;26992070;27434818;27600516;27846572;27862975;27871484;27920218;28063628;28228285;28510447;28649982;28832583;28860189;28904123;29242379;29298432;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29906447;30315122;30429286;30524438;30779550;31222486;31530632;31844290;31848261;31950173;31998317;32161166;32265295;32357974;32387766;32488085;32502341;3260265;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33767452;33913806;33936100;33968037;33981976;34087483;34171305;34211107;34229054;34405274;34509645;34561969;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37875486;37938771;40914422;9482744", "class_list": "", "function": "Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes., [UniProtKB, PubMed]; Protein-protein interactions between human exosome components support the assembly of RNase PH-type subunits into a six-membered PNPase-like ring., [RefSeq, PubMed]; This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008]., [RefSeq]; We have recently identified increased expression of p11 genes that implicate fibrinolysis in ALD 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "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:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0000176 nuclear exosome (RNase complex)", "go_biological_process": "GO:0071028 nuclear mRNA surveillance;GO:0006396 RNA processing;GO:0045190 isotype switching;GO:0006364 rRNA processing;GO:0016075 rRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.7, "record_id": "Q5RKV6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96T60-1", "uniprot_id": [ { "id": "PNKP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96T60", "type": "external" } ], "mass": 57076.0, "length": 521, "protein_name": "Bifunctional polynucleotide phosphatase/kinase", "gene_name": "PNKP", "organism": "Human", "refseq_name": "bifunctional polynucleotide phosphatase/kinase", "refseq_ac": [ { "id": "NP_009185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009185", "type": "external" } ], "gene_names_uniprotkb": "PNKP", "gene_names_refseq": "AOA4; CMT2B2; EIEE10; MCSZ; PNKP; PNK", "protein_names_uniprotkb": "Bifunctional polynucleotide phosphatase/kinase; 2'(3')-polynucleotidase; DNA 5'-kinase/3'-phosphatase; Polynucleotide kinase-3'-phosphatase", "protein_names_refseq": "DNA 5'-kinase/3'-phosphatase; Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP); bifunctional polynucleotide phosphatase/kinase", "tax_id": 9606, "disease": "microcephaly, seizures, and developmental delay (Disease Ontology:DOID:0080457); ataxia-oculomotor apraxia 4 (Disease Ontology:DOID:0081383); Charcot-Marie-Tooth disease type 2B2 (Disease Ontology:DOID:0110179)", "pathway": " (hsa:11284); (R-HSA-5649702)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10446192;10446193;11163244;11237011;11904416;12032095;12097317;15260972;15385968;16982218;17081983;17525332;18077418;18452278;18669648;19155274;19413330;19651622;19664994;19664995;19690332;20058876;20068231;20118933;20166139;20852255;21406692;21824916;22898188;23186163;24275569;24715725;25645385;25728773;26154972;26992070;27232581;27600516;28218747;28228285;28453785;28832583;28834231;28904123;29242379;29485866;29557506;29632711;30429286;30524438;31092671;31844290;32157095;32387766;32488085;32897882;32938616;32983136;33332469;33392160;33691108;33968037;33981976;34019948;34087483;34171305;34509645;34725712;35051231;35318648;35580925;36010968;36241641;36284347;37217939;37938771;39298485", "class_list": "", "function": "Fructose-2,6-bisphosphate restores DNA repair activity of PNKP and ameliorates neurodegenerative symptoms in Huntington's disease., [RefSeq, PubMed]; Involvement of human polynucleotide kinase in double-strand break repair by non-homologous end joining, [RefSeq, PubMed]; Plays a key role in the repair of DNA damage, functioning as part of both the non-homologous end-joining (NHEJ) and base excision repair (BER) pathways (PubMed:10446192, PubMed:10446193, PubMed:15385968, PubMed:20852255, PubMed:28453785). Through its two catalytic activities, PNK ensures that DNA termini are compatible with extension and ligation by either removing 3'-phosphates from, or by phosphorylating 5'-hydroxyl groups on, the ribose sugar of the DNA backbone (PubMed:10446192, PubMed:10446193)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The neurological abnormalities in individuals with microcephaly, early onset, intractable seizures and develomental delays may reflect a role for PNKP in several DNA repair pathways., [RefSeq, PubMed]; This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "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": "Q9BUL2;Q9P1V2;Q9UKU8;Q9UNF8;Q9UNI0", "ec_number_list": [ { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.1.3.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.32", "type": "external" } ], "go_molecular_function": "GO:0046404 ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity;GO:0005524 ATP binding;GO:0003684 damaged DNA binding;GO:0003690 double-stranded DNA binding;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0035861 site of double-strand break", "go_biological_process": "GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0006287 base-excision repair, gap-filling;GO:0006281 DNA repair;GO:0006979 response to oxidative stress;GO:0006303 double-strand break repair via nonhomologous end joining", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q96T60-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TET4-1", "uniprot_id": [ { "id": "GANC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TET4", "type": "external" } ], "mass": 104334.0, "length": 914, "protein_name": "Neutral alpha-glucosidase C", "gene_name": "GANC", "organism": "Human", "refseq_name": "neutral alpha-glucosidase C isoform 1", "refseq_ac": [ { "id": "NP_937784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937784", "type": "external" } ], "gene_names_uniprotkb": "GANC", "gene_names_refseq": "GANC", "protein_names_uniprotkb": "Neutral alpha-glucosidase C; 3.2.1.20", "protein_names_refseq": "neutral alpha-glucosidase C isoform 1; neutral alpha-glucosidase C", "tax_id": 9606, "disease": "", "pathway": " (hsa:2595)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;12370436;19588081;20800603;22424782;22544926;23481700;24715725;25418920;25645385;25880248;25892735;26154972;26375851;26610429;26992070;27726376;28218747;28228285;28832583;28904123;29242379;29282757;29437277;29493099;29508533;29557506;29769354;30315122;30429286;30524438;31154438;31530632;31844290;31848261;31937595;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34105348;34171305;34185709;34211107;34405274;34509645;34561969;35051231;35561310;35580925;36010968", "class_list": "glycogene;glycosylhydrolase", "function": "Analysis of Brazilian Pompe patients showed that sometimes the nature of the mutation (alpha-Glucosidases )matched the phenotype within this group., [RefSeq, PubMed]; Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]., [RefSeq]; Has alpha-glucosidase activity., [UniProtKB, PubMed]; In silico and physical cloning of two alleles of human neutral alpha-glucosidase (designated GANC on the human gene map), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our results indicated that neutral alpha glucosidase and fructose levels are contributed to discriminating obstructive and nonobstructive azoospermia in Chinese patients based on the histological types of testes., [RefSeq, PubMed]; Results showed that the level of NAG in normal men was significantly higher than that in subfertile and infertile men. Meanwhile, the level of NAG in subfertile men was significantly greater than that in infertile men, [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": 1135, "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": "Q52LQ4;Q8IWZ0;Q8IZM4;Q8IZM5", "ec_number_list": [], "go_molecular_function": "GO:0004558 alpha-1,4-glucosidase activity;GO:0030246 carbohydrate binding;GO:0003824 catalytic activity", "go_cellular_component": "", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006491 N-glycan processing", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q8TET4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57771-1", "uniprot_id": [ { "id": "RGS8_HUMAN", "url": "https://www.uniprot.org/uniprot/P57771", "type": "external" } ], "mass": 20917.0, "length": 180, "protein_name": "Regulator of G protein signaling 8", "gene_name": "RGS8", "organism": "Human", "refseq_name": "regulator of G-protein signaling 8 isoform 2", "refseq_ac": [ { "id": "NP_001095920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095920", "type": "external" } ], "gene_names_uniprotkb": "RGS8", "gene_names_refseq": "RGS8", "protein_names_uniprotkb": "Regulator of G protein signaling 8; RGS8", "protein_names_refseq": "regulator of G-protein signaling 8 isoform 2; regulator of G-protein signalling 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:85397); (R-HSA-418594)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "11007482;11237011;11318611;12120503;15951850;16634148;16923326;18434541;18577758;20627871;21135262;2534964;26754208;2748346;2834384;30379171;31844290;34561969;36059514;7937899;8015379;8406495", "class_list": "", "function": "Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets. Publication Status: Online-Only, [RefSeq, PubMed]; Missense mutations in RGS8 gene is associated with breast cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:18434541). Modulates the activity of potassium channels that are activated in response to DRD2 and CHRM2 signaling (By similarity)., [UniProtKB, UniProtKB, PubMed]; The chimeric RGS8 domains containing the first or the second exon part of RGS5 showed strong inhibitory effects similar to that of wild type RGS8, but the chimeric domain with the third exon part of RGS5 lost its activity, [RefSeq, PubMed]; This gene is a member of the regulator of G protein signaling (RGS) family and encodes a protein with a single RGS domain. Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. They accelerate transit through the cycle of GTP binding and hydrolysis to GDP, thereby terminating signal transduction, but paradoxically, also accelerate receptor-stimulated activation. [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": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DGL9;Q3SYD2", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043204 perikaryon;GO:0045202 synapse", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0043547 positive regulation of GTPase activity;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0060159 regulation of dopamine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P57771-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99445-1", "uniprot_id": [ { "id": "GML_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99445", "type": "external" } ], "mass": 17730.0, "length": 158, "protein_name": "Glycosyl-phosphatidylinositol-anchored molecule-like protein", "gene_name": "GML", "organism": "Human", "refseq_name": "glycosyl-phosphatidylinositol-anchored molecule-like protein precursor", "refseq_ac": [ { "id": "NP_002057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002057", "type": "external" } ], "gene_names_uniprotkb": "GML; LY6DL", "gene_names_refseq": "GML; LY6DL", "protein_names_uniprotkb": "Glycosyl-phosphatidylinositol-anchored molecule-like protein", "protein_names_refseq": "GPI anchored molecule like protein; Glycosylphosphatidylinositol-anchored molecule-like protein; glycosyl-phosphatidylinositol-anchored molecule-like protein precursor; glycosyl-phosphatidylinositol-anchored molecule-like protein; glycosylphosphatidylinositol anchored molecule like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:2765)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;20237496;20800603;8934543;9169150", "class_list": "", "function": "May play a role in the apoptotic pathway or cell-cycle regulation induced by p53/TP53 after DNA damage., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "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": "A0AVF6;O00686;O00731", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0019898 extrinsic component of membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0006915 apoptotic process;GO:0030330 DNA damage response, signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q99445-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25789-1", "uniprot_id": [ { "id": "PSA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P25789", "type": "external" } ], "mass": 29484.0, "length": 261, "protein_name": "Proteasome subunit alpha type-4", "gene_name": "PSMA4", "organism": "Human", "refseq_name": "proteasome subunit alpha type-4 isoform 1", "refseq_ac": [ { "id": "NP_001096137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096137", "type": "external" } ], "gene_names_uniprotkb": "PSMA4; HC9; PSC9", "gene_names_refseq": "HC9; HsT17706; PSC9; PSMA4", "protein_names_uniprotkb": "Proteasome subunit alpha type-4; Macropain subunit C9; Multicatalytic endopeptidase complex subunit C9; Proteasome component C9; Proteasome subunit L; Proteasome subunit alpha-3; alpha-3", "protein_names_refseq": "alpha-3; macropain subunit C9; multicatalytic endopeptidase complex subunit C9; proteasome (prosome, macropain) subunit, alpha type, 4; proteasome component C9; proteasome subunit HC9; proteasome subunit L; proteasome subunit alpha 4; proteasome subunit alpha type-4 isoform 1; proteasome subunit alpha type-4; proteasome subunit alpha-3; proteasome subunit alpha3", "tax_id": 9606, "disease": "", "pathway": " (hsa:5685); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1076, "publication_id_list": "10023660;10066435;10075690;10092233;10187770;10196136;10205060;10215629;10230406;10321728;10323868;10339564;10375532;10411507;10421629;10433824;10444327;10470034;10484077;10514424;10514433;10535940;10559216;10559916;10564661;10572046;10581160;10593898;10597293;10665657;10679238;10693759;10698680;10702308;10716940;10733526;10748049;10779524;10797013;10811609;10823831;10827953;10838074;10854325;10878807;10882101;10884341;10911365;10918611;10944113;10966113;10973495;10973499;10975528;10982817;10984056;10995389;11024059;11027307;11035045;11046155;11053425;11057907;11062501;11069780;11081627;11090634;11094434;11125146;11146634;11231585;11237011;11239468;11248027;11259415;11262391;11285280;11292861;11292862;11298456;11325957;11350924;11358837;11358993;11371342;11454738;11460167;11486055;11493923;11504826;11504942;11509732;11520989;11521686;11562349;11562789;11566882;11584266;11585840;11598268;11606584;11733065;11739726;11772397;11804587;11812794;11842200;11847229;11884229;11923872;11931757;11960000;11960013;11961546;11970895;12000792;12050670;12061891;12068298;12070128;12070292;12101228;12118249;12123571;12136087;12138125;12181345;12186903;12194817;12198130;12234927;12297295;12351678;12359729;12379217;12379510;12399544;12403779;12426310;12446569;12473183;12473184;12496252;12504025;12504026;12526791;12538644;12538665;12546821;12554650;12600938;12604685;12609982;12615973;12646216;12646235;12660156;12660731;12676583;12676925;12682069;12700136;12724779;12738770;12750368;12759351;12759363;12787671;12788921;12791267;12791687;12808096;12816948;12819195;12820959;12821933;12853446;12860405;12912907;12915405;12917689;12917691;12923053;12963847;1352877;1356264;1359686;1377674;14514672;14517290;14517306;14528300;14528312;14564014;14585973;14603323;14611647;14625308;14661020;14661924;14672932;14676825;14681206;14684739;14688281;14690597;14695475;14707141;14734113;14757770;14764894;15014503;15029244;15053880;15075292;15084608;15105418;15115751;15122200;15125833;15138260;15140882;15145317;15163793;15175422;15198976;15199159;15224091;15224092;15226418;15244466;15247232;15257295;15282312;15292211;15300262;15327769;15327770;15340381;15361859;15367669;15371334;15469821;15469984;15472518;15474027;15537541;15538386;15541657;15571818;15572695;15574592;15577943;15592474;15601839;15611333;15652483;15652751;15664193;15678106;15678131;15683364;15688063;15694336;1570011;15703179;15735151;15735756;15737063;15749015;15781449;15799966;15831487;15845454;15863492;15899824;15916963;15917222;15917247;15937478;15944226;15983046;15987702;16056267;16061793;16115867;16136078;16140942;16155214;16171779;16186825;16209941;16214042;16251969;16252004;16282375;16286508;16301747;16303288;16335952;16341139;16356853;16356855;16356856;16359182;16360641;16371461;16371649;16401342;16413484;16421188;16421275;16446366;16459297;16459298;16478641;16547496;16547521;16551619;16556936;16595681;16611729;16611981;16612002;16647857;16651542;16687519;16705181;16707496;16728642;16732330;16738327;16740475;16753179;16790436;16816140;16818754;16824194;16831874;16849449;16884355;16901786;16901789;16906146;16931761;16943200;16954532;1695717;16962933;16964243;16964248;16971392;16973613;16978534;16980583;16990800;17047224;17072321;17081101;17115028;17126548;17132228;17135271;17139257;17141195;17158449;17161475;17182618;17183061;17183367;17187060;17189198;17204608;17218260;17220875;17234884;17254968;17283082;17290220;17318175;17323924;17332328;17363905;17395884;17428801;17434750;17442700;17443180;17468049;17485488;17496917;17497243;17507369;17507410;17510365;17512459;17523162;17540904;17548359;1756723;17636564;17641202;17675297;17728103;17728323;17785452;17786208;17855752;17873522;17890055;17894550;17900240;17947239;17948026;17948050;17977821;17979524;17980597;17981138;17997719;18031682;18070982;18093314;18162290;18167338;18172164;18180283;18184961;18206966;18235225;18238777;18248330;18249105;18264092;18273910;18280240;1828071;18281465;18282684;1833184;18337469;18434309;18438411;18455992;18462924;18467330;18480045;18485873;18497258;18497827;18502753;18534984;18541707;18555777;18573886;18593949;18632802;18632848;18635759;18636086;18644862;18662542;18669648;18691976;18692471;18701449;18711132;18716059;18719096;18720373;18772140;18775313;18776931;18805092;18826954;18827223;18832070;18851830;18926707;18997792;18997794;19002207;19015242;19028597;19056373;19061640;19066035;19081070;19122653;19125156;19135894;19166925;19188362;19188440;19208626;19217269;19250909;19264966;19305393;19317650;19321346;19345329;19346256;19352404;19359218;19363159;19368795;19371734;19379695;19398555;19424180;19447222;19452197;19473979;19473982;19489725;19490896;19513348;19533801;19549984;19570978;19573811;19592253;19593530;19603532;19608861;19617556;19622347;19664994;19666503;1968359;19684112;19706539;19729658;19734889;19748355;19759537;19808967;19815541;19815555;19818708;19838211;19851334;19852954;19862647;19874575;19874889;19878745;19896182;19903815;19909372;19910467;19934406;19940261;19955409;1998343;19996169;20014402;20016067;20018861;20028659;20038579;20068231;20096447;20100835;20104595;20154143;20193029;20227366;20228808;20236090;2025653;20300203;20348946;20360384;20368735;20378532;20436459;20449947;20452972;20460306;20471946;20487519;20495340;20501646;20501935;20512148;20536836;20538596;20543837;20577264;20583968;20585641;20621639;20643644;20685844;20734105;20805357;20818436;20844016;20849292;20858899;20887958;20889716;20956384;21081755;21083385;21091114;21177870;2121370;21220506;21239494;21245377;21252624;21257310;21317288;21329875;21329882;21335549;2135388;21357747;21362556;21372320;21391649;2139180;21447816;21463634;21478859;2147937;21525931;21532586;21571218;21571647;21596315;21652558;21659512;21695114;21734707;21778237;21799911;21801010;2183031;21849505;21863050;21878643;21921029;21931630;21940857;21962518;21966355;21983142;22007132;22012064;22029577;22036506;22047557;22069318;22085928;22101459;2210768;22117219;22128162;22142471;22153078;22178883;22216260;22265677;22267219;22279049;22286099;22306028;22306998;22318583;2236053;22391301;22422618;22424782;22427670;22440753;22466964;22505454;22508986;22537386;2261476;22706990;22718757;22751498;22751928;22761442;22789539;22798961;22800433;22802525;22872865;22885700;22897851;22959436;22964642;22982193;23063411;23069990;23112049;23140627;23144924;23159851;23186163;23201271;23217742;23236459;23256519;23274085;23301498;23332756;23333304;23333871;23395819;23401859;23403054;23419514;23443682;23452856;23453757;23486064;23495936;23535009;23535662;23535663;23563313;23579495;23583660;23603117;23613522;23661552;23685075;23719536;23725801;23746841;23824326;23825189;23851460;23867461;23878308;23912815;23943595;23955340;23986495;24011591;24019521;2405250;24056413;24072710;24074955;24076655;24260525;24270891;24275569;24298019;24302888;24309468;24366543;24366607;24367090;24493797;24582806;24585635;24636985;24685677;24714562;24715725;2475911;24784881;24793695;24793696;24814062;24845016;24854174;24896179;24925320;25040165;25043025;25083866;25132172;25133187;25152365;25197364;25231993;25242263;25253721;25260729;25305019;2530630;25314029;25339975;25349211;25355947;25394790;25418920;25531226;25547115;25576301;25578727;25578875;25584290;25599644;25645385;25654763;2570070;2570460;25733683;25740432;25793262;25810538;25880248;25892735;25921531;26091038;26117325;26133119;26154972;26183061;26208431;26222030;26280083;26280536;26344709;26443277;26460955;26583321;26632597;26778333;26811146;26906416;26942676;26992070;27030794;27137657;27176742;27222660;27249176;27342858;27428775;27466718;27493187;27543614;27565346;27572267;27600516;27846572;27862975;27920218;28115426;28132103;28178531;28218747;28228285;28263418;28317937;28380357;28442575;28514659;28598414;28832583;28834231;28855257;28904123;2898143;29055231;29153394;29233872;29242379;29314611;29331515;29356040;29393594;29437277;29450944;2946959;29493099;29508533;29526543;29557506;29632046;29632312;29717933;29786170;30118680;30244831;30315122;30334692;30334693;30410026;30429286;30484775;30524438;30610225;30728908;30779550;30833945;31011209;31020640;31154438;31217245;3129195;31530632;31546975;31679946;31844290;31848261;31937595;31998317;32005965;32119511;32157095;32161166;32265295;32284348;32293500;32357974;32387766;32488085;32502341;32640524;32672401;32870666;32897882;32938616;32981041;32983136;33009401;33141586;33214551;33298915;33392160;33406423;33444648;33465208;33537174;33592498;33691108;33717175;33791708;33859744;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34215617;34229054;34315872;34357683;34405274;34509645;3457471;34711951;3472246;34725712;34932366;35008409;35051231;35138101;35154160;35318648;35385574;35561310;35580925;36010968;36039727;36198437;36215666;36241641;36284347;37340703;37676773;38665916;40596516;40914422;7479848;7479976;7499357;7510216;7512451;7523390;7529176;7544915;7553863;7553864;7559638;7575604;7578059;7612269;7628694;7639698;7799959;7809113;7811265;7811704;7831327;7862124;7865904;7885476;7957109;7985023;8107774;8140422;8234276;8327496;8332913;8387275;8521496;8550590;8563751;8599092;8601309;8610016;8626374;8662591;8662795;8670417;8689684;8692272;8702708;8706131;8824192;8837778;8896571;8921937;8972730;9122164;9135156;9136925;9219684;9230313;9247583;9252186;9302992;9315679;9346238;9346484;9362451;9371760;9372967;9380723;9430229;9482734;9520446;9528852;9535855;9593755;9601642;9628874;9635433;9652413;9660940;9668046;9674432;9687533;9721103;9742107;9747882;9790970;9816258;9831708;9844631;9859996;9874371;9887101;9891082;9892021;9914500;9990852;9990853", "class_list": "", "function": "Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Component of the proteasome, a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity., [UniProtKB, UniProtKB]; Potentially functional genetic variants of VAV2 and PSMA4 in the immune-activation pathway and non-small cell lung cancer survival., [RefSeq, PubMed]; This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DW86;Q53XP2;Q567Q5;Q8TBD1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0071357 cellular response to type I interferon;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 108.3, "record_id": "P25789-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43688-1", "uniprot_id": [ { "id": "PLPP2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43688", "type": "external" } ], "mass": 32574.0, "length": 288, "protein_name": "Phospholipid phosphatase 2", "gene_name": "PLPP2", "organism": "Human", "refseq_name": "phospholipid phosphatase 2 isoform 1", "refseq_ac": [ { "id": "NP_003703", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003703", "type": "external" } ], "gene_names_uniprotkb": "PLPP2; LPP2; PPAP2C", "gene_names_refseq": "LPP2; PAP-2c; PAP2-g; PLPP2; PPAP2C", "protein_names_uniprotkb": "Phospholipid phosphatase 2; 3.1.3.-; 3.1.3.4; Lipid phosphate phosphohydrolase 2; PAP-2c; PAP2-G; PAP2-gamma; PAP2c; Phosphatidate phosphohydrolase type 2c; Phosphatidic acid phosphatase 2c", "protein_names_refseq": "PAP2-gamma; PAP2c; lipid phosphate phosphohydrolase 2; phosphatidate phosphohydrolase type 2c; phosphatidic acid phosphatase 2c; phosphatidic acid phosphatase type 2C; phosphatidic acid phosphohydrolase type 2c; phospholipid phosphatase 2 isoform 1; type-2 phosphatidic acid phosphatase-gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:8612); (R-HSA-9845614)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10.1101/2023.09.13.557529;10992322;11018465;11237011;11356846;12411432;12815058;16467304;16782891;16940153;17081983;17379599;17382292;17713573;18215144;18452278;18558101;18619555;20068046;20089856;20699116;23721920;25286108;25576301;27126290;28904123;29229990;29557506;29741879;30090628;30575723;30635364;32938616;35051231;35580925;35966578;36215666;36284347;36332491;37217939;37996944;9570154;9607309;9705349", "class_list": "glycogene", "function": "Functional study of the mouse homolog, [RefSeq, PubMed]; Lipid phosphate phosphatase-2 promotes tumor growth through increased c-Myc expression. Publication Status: Online-Only, [RefSeq, PubMed]; Magnesium-independent phospholipid phosphatase that catalyzes the dephosphorylation of a variety of glycerolipid and sphingolipid phosphate esters including phosphatidate/PA, lysophosphatidate/LPA, sphingosine 1-phosphate/S1P and ceramide 1-phosphate/C1P (PubMed:16467304, PubMed:9607309, PubMed:9705349). Has no apparent extracellular phosphatase activity and therefore most probably acts intracellularly (PubMed:16467304). Also acts on N-oleoyl ethanolamine phosphate/N-(9Z-octadecenoyl)-ethanolamine phosphate, a potential physiological compound (PubMed:9607309). Through dephosphorylation of these bioactive lipid mediators produces new bioactive compounds and may regulate signal transduction in different cellular processes (Probable). Indirectly regulates, for instance, cell cycle G1/S phase transition through its phospholipid phosphatase activity (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; PLPP2: Potential therapeutic target of breast cancer in PLPP family., [RefSeq, PubMed]; The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptomic landscape based on annotated clinical features reveals PLPP2 involvement in lipid raft-mediated proliferation signature of early-stage lung adenocarcinoma. 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": 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": 1, "reported_glycation": 0, "reported_snv": 340, "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": "A6NLV0;E9PAY8", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "3.1.3.106", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.106", "type": "external" }, { "id": "3.6.1.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.75", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.68", "type": "external" } ], "go_molecular_function": "GO:0008195 phosphatidate phosphatase activity;GO:0042392 sphingosine-1-phosphate phosphatase activity;GO:0106235 ceramide-1-phosphate phosphatase activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006670 sphingosine metabolic process;GO:0030149 sphingolipid catabolic process;GO:0007165 signal transduction;GO:0006672 ceramide metabolic process;GO:0006644 phospholipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O43688-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCE5-1", "uniprot_id": [ { "id": "MET14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCE5", "type": "external" } ], "mass": 52150.0, "length": 456, "protein_name": "N(6)-adenosine-methyltransferase non-catalytic subunit METTL14", "gene_name": "METTL14", "organism": "Human", "refseq_name": "N(6)-adenosine-methyltransferase non-catalytic subunit METTL14", "refseq_ac": [ { "id": "NP_066012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066012", "type": "external" } ], "gene_names_uniprotkb": "METTL14; KIAA1627", "gene_names_refseq": "METTL14; hMETTL14", "protein_names_uniprotkb": "N(6)-adenosine-methyltransferase non-catalytic subunit METTL14; Methyltransferase-like protein 14; hMETTL14", "protein_names_refseq": "N(6)-adenosine-methyltransferase non-catalytic subunit METTL14; N6-adenosine-methyltransferase non-catalytic subunit; N6-adenosine-methyltransferase subunit METTL14; methyltransferase 14, N6-adenosine-methyltransferase complex catalytic subunit; methyltransferase 14, N6-adenosine-methyltransferase subunit; methyltransferase like 14; methyltransferase-like protein 14", "tax_id": 9606, "disease": "traumatic brain injury (Disease Ontology:DOID:0081292)", "pathway": " (hsa:57721); (R-HSA-72203)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11237011;20068231;20332099;22645359;24275569;24316715;24407421;24715725;24981863;25645385;25719671;26154972;26458103;27281194;27373337;27600516;27627798;27846572;27920218;28218747;28832583;28904123;29242379;29348140;29437277;29507755;29557506;29632711;29786170;30429286;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33912179;33968037;33981976;34087483;34171305;34185709;35051231;35580925;36010968;36284347;37938771;38956710;39002703;39033992;39206905;39221886;8352591;9409616", "class_list": "", "function": "ETS1 and RBPJ transcriptionally regulate METTL14 to suppress TGF-beta1-induced epithelial-mesenchymal transition in human bronchial epithelial cells., [RefSeq, PubMed]; METTL14 contributes to the progression of nasopharyngeal carcinoma through regulating the stability of AOC1 mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; METTL14-Mediated m6A Modification of TUG1 Represses Ferroptosis in Alzheimer's Disease via Inhibiting GDF15 Ubiquitination., [RefSeq, PubMed]; METTL14-mediated N6-methyladenosine modification of TCP1 mRNA promotes acute myeloid leukemia progression., [RefSeq, PubMed]; METTL14-mediated lncRNA-FAS-AS1 promotes osteoarthritis progression by up-regulating ADAM8., [RefSeq, PubMed]; Methyltransferase-like protein 14 in a complex with METTL3 mediates nuclear RNA methylation, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some mRNAs and regulates the circadian clock, differentiation of embryonic stem cells and cortical neurogenesis. In the heterodimer formed with METTL3, METTL14 constitutes the RNA-binding scaffold that recognizes the substrate rather than the catalytic core. N6-methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays a role in mRNA stability and processing. M6A acts as a key regulator of mRNA stability by promoting mRNA destabilization and degradation. In embryonic stem cells (ESCs), m6A methylation of mRNAs encoding key naive pluripotency-promoting transcripts results in transcript destabilization. M6A regulates spermatogonial differentiation and meiosis and is essential for male fertility and spermatogenesis. M6A also regulates cortical neurogenesis: m6A methylation of transcripts related to transcription factors, neural stem cells, the cell cycle and neuronal differentiation during brain development promotes their destabilization and decay, promoting differentiation of radial glial cells., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 2, "reported_mutagensis": 14, "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": "A6NIG1;Q969V2", "ec_number_list": [], "go_molecular_function": "GO:0001734 mRNA m(6)A methyltransferase activity;GO:0003729 mRNA binding;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0140640 catalytic activity, acting on a nucleic acid", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0021861 forebrain radial glial cell differentiation;GO:0006397 mRNA processing;GO:0007283 spermatogenesis;GO:0016556 mRNA modification;GO:0048255 mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9HCE5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61224-1", "uniprot_id": [ { "id": "RAP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P61224", "type": "external" } ], "mass": 20825.0, "length": 184, "protein_name": "Ras-related protein Rap-1b", "gene_name": "RAP1B", "organism": "Human", "refseq_name": "ras-related protein Rap-1b isoform 1 precursor", "refseq_ac": [ { "id": "NP_001010942", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010942", "type": "external" } ], "gene_names_uniprotkb": "RAP1B; SW-cl.11", "gene_names_refseq": "K-REV; RAL1B; RAP1B; THC11", "protein_names_uniprotkb": "Ras-related protein Rap-1b; 3.6.5.2; GTP-binding protein smg p21B", "protein_names_refseq": "GTP-binding protein smg p21B; RAS-related protein RAP1B; Ras family small GTP binding protein RAP1B; ras-related protein Rap-1b isoform 1 precursor; ras-related protein Rap-1b; small GTP binding protein", "tax_id": 9606, "disease": "thrombocytopenia (Disease Ontology:DOID:1588); thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (MONDO:MONDO:0958000)", "pathway": " (hsa:5908); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-392517); (R-HSA-5674135); (R-HSA-6798695); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8875555); (R-HSA-8950505); (R-HSA-9649948); (R-HSA-9656223)", "pathway_count": 15, "publication_count": 223, "publication_id_list": "10209122;10409742;10446041;10618718;10725339;10753869;10777559;10871282;10891492;10896934;10964917;11146548;11237011;11325826;11476890;11802164;11802165;11940607;12005431;12006644;12068308;12089143;12138161;12473660;12479806;12585966;12640026;12665801;12832465;14636584;14754902;14970219;15035987;15118098;15157149;15239952;15260967;15334074;15469846;15520807;15543157;15547943;15630448;15632203;16005629;16038020;16040750;16076873;16115959;16135787;16364920;16508002;16581250;16702958;16757337;16849525;16879721;16919435;1696481;17018604;17145850;17178906;17218263;1722201;17377532;17496912;17509819;17563371;17603482;17603483;17624957;18039662;18287029;18309292;18434644;1846040;18559533;18562239;18660803;18974108;19091303;19219045;19242111;19279408;19467855;19651783;19933846;20052757;20130576;20141835;20179705;20332120;20526349;20818844;20858867;21107323;2123345;21424530;21514245;21639808;21779496;21784453;21840392;21872626;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22577140;22589270;22745804;22826437;23171796;23288408;23352452;23453624;23481700;23583981;23614898;23650620;23667175;23680146;23875798;23934108;24121058;24135138;24202393;24345920;24415755;24518591;24651010;24714562;24746704;24937142;24957944;25195011;25204415;25313996;25435214;25502872;25576301;25892735;25907612;26214590;26375851;27227380;27760305;28510447;28939558;29242379;29467321;30034615;30429286;30794926;31092671;31154438;31217245;3137530;3141412;31848261;31998317;32119511;32157095;32161166;32627184;3287375;32897882;32938616;32983136;33043033;33592498;33691108;33717175;33936100;33968037;34185709;34357683;35051231;35083852;35154160;35251023;35318648;35451551;35561310;35580925;36010968;36056690;36215666;36241641;36284347;36951484;37515145;37850357;38665916;7513017;7565670;7565795;7731720;7929275;7935411;7997267;8051079;8157000;8253074;8463283;8621540;8631894;8649368;8692836;8755247;9020159;9115221;9346962;9351824;9566877;9733512;9789079;9858547", "class_list": "", "function": "Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia., [RefSeq, PubMed]; GTP-binding protein that possesses intrinsic GTPase activity. Contributes to the polarizing activity of KRIT1 and CDH5 in the establishment and maintenance of correct endothelial cell polarity and vascular lumen. Required for the localization of phosphorylated PRKCZ, PARD3 and TIAM1 to the cell junction. Plays a role in the establishment of basal endothelial barrier function., [UniProtKB, PubMed, PubMed, PubMed]; ICP4-Associated Activation of Rap1b Facilitates Herpes Simplex Virus Type I (HSV-1) Infection in Human Corneal Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Roles of the hsa_circ_0013880/USP32/Rap1b axis in the proliferation and apoptosis of acute myeloid leukemia cells., [RefSeq, PubMed]; SNORA70E promotes the occurrence and development of ovarian cancer through pseudouridylation modification of RAP1B and alternative splicing of PARPBP., [RefSeq, PubMed]; This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [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": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Z2;B4DQI8;B4DW74;B4DW94;P09526;Q502X3;Q5TZR4;Q6DCA1;Q6LES0", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.25", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "3.1.31.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.31.1", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0044877 protein-containing complex binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005911 cell-cell junction", "go_biological_process": "GO:2000301 negative regulation of synaptic vesicle exocytosis;GO:0061028 establishment of endothelial barrier;GO:0032486 Rap protein signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0071320 cellular response to cAMP", "synthesized_glycan_count": 0, "hit_score": 22.6, "record_id": "P61224-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78344-1", "uniprot_id": [ { "id": "IF4G2_HUMAN", "url": "https://www.uniprot.org/uniprot/P78344", "type": "external" } ], "mass": 102362.0, "length": 907, "protein_name": "Eukaryotic translation initiation factor 4 gamma 2", "gene_name": "EIF4G2", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 4 gamma 2 isoform 2", "refseq_ac": [ { "id": "NP_001036024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036024", "type": "external" } ], "gene_names_uniprotkb": "EIF4G2; DAP5; SW-cl.75", "gene_names_refseq": "AAG1; DAP5; EIF4G2; NAT1; P97", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 4 gamma 2; DAP-5; Death-associated protein 5; eIF-4-gamma 2; eIF-4G 2; eIF4G 2; p97", "protein_names_refseq": "DAP-5; aging-associated protein 1; death-associated protein 5; eIF-4-gamma 2; eIF-4G 2; eIF4G 2; eukaryotic translation initiation factor 4 gamma 2 isoform 2; eukaryotic translation initiation factor 4G-like 1", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); hypertension (Disease Ontology:DOID:10763); Parkinson's disease (Disease Ontology:DOID:14330); renovascular hypertension (Disease Ontology:DOID:1591)", "pathway": " (hsa:1982); (R-HSA-1169408); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 166, "publication_id_list": "10.1101/2023.09.13.557529;11095724;11112487;11157743;11237011;11511540;11788588;11943866;12525615;12582176;12665801;15131269;15485925;15702989;15718103;16009940;16112642;16122702;16139798;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;16964243;17289916;17376915;17984221;18025107;18088087;18287095;18305167;18583345;18669648;19073728;19125153;19270716;19690332;20068231;20133869;20219937;20308324;20385878;21406692;22223895;22424782;22898188;23186163;23301498;23481700;24129315;24275569;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26735137;26811146;26992070;27846572;27920218;28218747;28228285;28467828;28510447;28657654;28832583;28834231;28904123;29117567;29242379;29393594;29437277;29493099;29508533;29530922;29557506;29632711;29769354;29786170;30059200;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32890404;32897882;32938616;32938750;32983136;33043033;33123756;33141586;33298915;33392160;33465208;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34696522;34725712;34932366;35051231;35138101;35254053;35561310;35580925;35585045;36010968;36215666;36241641;36284347;37646610;37938771;38129098;38177122;38342889;38665916;39531497;40307207;40596516;41350704;7559393;9030685;9032289;9049310;9525617;9878069", "class_list": "", "function": "Appears to play a role in the switch from cap-dependent to IRES-mediated translation during mitosis, apoptosis and viral infection. Cleaved by some caspases and viral proteases., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Exclusive use of a GUG translation initiation codon is conserved in human, chicken, Xenopus, and zebrafish., [RefSeq, PubMed]; Loss-of-function cancer-linked mutations in the EIF4G2 non-canonical translation initiation factor. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-379-5P INHIBITION ENHANCES INTESTINAL EPITHELIAL PROLIFERATION AND BARRIER FUNCTION RECOVERY AFTER ISCHEMIA/REPERFUSION BY TARGETING EIF4G2., [RefSeq, PubMed]; MicroRNA-877-5p promotes osteoblast differentiation by targeting EIF4G2 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Translation starts exclusively at a non-AUG translation initiation codon (GUG)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O60877;P78404;Q0VH00;Q0VH01;Q2NKW9;Q49A79;Q53EU1;Q58EZ2;Q8NI71;Q96C16", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0045296 cadherin binding;GO:0008135 translation factor activity, RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005912 adherens junction;GO:0016020 membrane;GO:0016281 eukaryotic translation initiation factor 4F complex", "go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0006413 translational initiation;GO:0010507 negative regulation of autophagy;GO:0008219 cell death;GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 17.5, "record_id": "P78344-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2T1-1", "uniprot_id": [ { "id": "GMPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2T1", "type": "external" } ], "mass": 37874.0, "length": 348, "protein_name": "GMP reductase 2", "gene_name": "GMPR2", "organism": "Human", "refseq_name": "GMP reductase 2 isoform 2", "refseq_ac": [ { "id": "NP_001002000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002000", "type": "external" } ], "gene_names_uniprotkb": "GMPR2; GMPR", "gene_names_refseq": "GMPR 2; GMPR2; hGMPR-II", "protein_names_uniprotkb": "GMP reductase 2; 1.7.1.7; GMPR 2; Guanosine 5'-monophosphate oxidoreductase 2; Guanosine monophosphate reductase 2", "protein_names_refseq": "GMP reductase 2 isoform 2; GMP reductase 2; guanosine 5'-monophosphate oxidoreductase 2; guanosine monophosphate reductase isolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:51292); (R-HSA-74217)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "11237011;11427893;12009299;12669231;1429593;16359702;18399692;18991276;19608861;2104852;21136679;21755941;21872626;218932;21993680;22037469;22706990;227870;23208589;23481700;24366607;24714562;24715725;2539852;25576301;25645385;26154972;26375851;26728094;26992070;27543614;27846572;27920218;28228285;2844225;2845866;28649982;28832583;28834231;28904123;29242379;29331515;29557506;29632711;29786170;29789417;2999129;3029074;30315122;30524438;30573663;30779550;30833945;31020640;31217245;31222486;31530632;3182793;31844290;31848261;32144205;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34229054;34405274;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;37938771;40307207;457664;6281270;6300847;6771276;8692979;9804782;9843365;9857047", "class_list": "", "function": "A single crystal structure of human GMPR type 2 with IMP and NADPH fortuitously captures three different states, each of which mimics a distinct step in the catalytic cycle of guanosine monophosphate reductase(GMPR). Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides., [UniProtKB, HAMAP, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Data suggest the existence of two distinct types of human GMP reductase molecular species, which can be used to explain the bimodal saturation curve noted with purified human erythrocyte GMP reductase., [RefSeq, PubMed]; GMPR2 is a novel human GMP reductase, and overexpression of GMPR2 can promote the monocytic differentiation of HL-60 leukemia cells., [RefSeq, PubMed]; Loss of expression of GMPR2 and PPARalpha is associated with breast cancer basal phenotype; indicating that they may play a role in carcinogenesis., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DS66;Q567T0;Q6IAJ8;Q86T14", "ec_number_list": [ { "id": "1.7.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.7", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003920 GMP reductase activity;GO:0016491 oxidoreductase activity;GO:0003938 IMP dehydrogenase activity", "go_cellular_component": "GO:0005829 cytosol;GO:1902560 GMP reductase complex", "go_biological_process": "GO:0046037 GMP metabolic process;GO:0006144 purine nucleobase metabolic process;GO:0006163 purine nucleotide metabolic process;GO:0006164 purine nucleotide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9P2T1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2Q2-1", "uniprot_id": [ { "id": "FRM4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2Q2", "type": "external" } ], "mass": 115458.0, "length": 1039, "protein_name": "FERM domain-containing protein 4A", "gene_name": "FRMD4A", "organism": "Human", "refseq_name": "FERM domain-containing protein 4A isoform b", "refseq_ac": [ { "id": "NP_001305265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305265", "type": "external" } ], "gene_names_uniprotkb": "FRMD4A; FRMD4; KIAA1294", "gene_names_refseq": "CCAFCA; FRMD4A; FRMD4; bA295P9.4", "protein_names_uniprotkb": "FERM domain-containing protein 4A", "protein_names_refseq": "FERM domain containing 4; FERM domain-containing protein 4A isoform b; FERM domain-containing protein 4A", "tax_id": 9606, "disease": "severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome (MONDO:MONDO:0014787)", "pathway": " (hsa:55691)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;17697703;20058876;22006218;22430674;22564525;22645359;23186163;24275569;24714562;24715725;25388005;25418920;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26929215;27044754;27600516;27666346;27846572;27920218;28218747;28228285;28514659;28832583;28860189;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30429286;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33968037;34087483;34932366;35051231;35312514;35318648;35580925;36010968;37938771;40307207", "class_list": "", "function": "A single nucleotide polymorphism in the FERM domain containing 4A protein is associated with nicotine dependence., [RefSeq, PubMed]; Data suggest that FRMD4A could be a relevant candidate gene for AD risk. Erratum:[Mol Psychiatry. 2013 Apr;18(4):521. Caffara, P [corrected to Caffarra, P]], [RefSeq, PubMed]; FRMD4A RNAi or inhibition of cytohesins strongly upregulated secretion of endogenous tau. These results suggest that FRMD4A, a genetic risk factor for late-onset Alzheimer's disease, regulates tau secretion by activating cytohesin-Arf6 signaling., [RefSeq, PubMed]; Findings suggest FRMD4A as a novel candidate therapeutic target in HNSCC based on the key role in metastatic growth we have identified, [RefSeq, PubMed]; Findings suggest that FRMD4A expression correlates with the development of tongue squamous cell carcinoma., [RefSeq, PubMed]; Polymorphisms in the FRMD4A Gene Are Associated With Chronic Obstructive Pulmonary Disease Susceptibility in a Latin American Population.', trans 'Polimorfismos en el gen FRMD4A se asocian a riesgo de enfermedad pulmonar obstructiva cronica en poblacion latinoamericana., [RefSeq, PubMed]; Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 46, "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": "A7E2Y3;Q5T377", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0050714 positive regulation of protein secretion;GO:0090162 establishment of epithelial cell polarity", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9P2Q2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39086-1", "uniprot_id": [ { "id": "GRIK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P39086", "type": "external" } ], "mass": 103981.0, "length": 918, "protein_name": "Glutamate receptor ionotropic, kainate 1", "gene_name": "GRIK1", "organism": "Human", "refseq_name": "glutamate receptor ionotropic, kainate 1 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001307545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307545", "type": "external" } ], "gene_names_uniprotkb": "GRIK1; GLUR5", "gene_names_refseq": "EAA3; EEA3; GLR5; GLUR5; GRIK1; GluK1; gluR-5", "protein_names_uniprotkb": "Glutamate receptor ionotropic, kainate 1; EAA3; Excitatory amino acid receptor 3; GluK1; GluR-5; GluR5; Glutamate receptor 5", "protein_names_refseq": "GluK1(del_e2); excitatory amino acid receptor 3; glutamate receptor 5; glutamate receptor ionotropic, kainate 1 isoform 3 precursor; glutamate receptor ionotropic, kainate 1", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); depressive disorder (Disease Ontology:DOID:1596); status epilepticus (Disease Ontology:DOID:1824); childhood absence epilepsy (Disease Ontology:DOID:1825); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:2897); (R-HSA-451307); (R-HSA-451308)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "11237011;11702055;16221857;19342380;21893069;26992070;31844290;32488085;35051231;36323684;7696618;8260617;8589992;8730589;8782898;9625352", "class_list": "", "function": "Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Ionotropic glutamate receptor that functions as a cation-permeable ligand-gated ion channel, gated by L-glutamate and the glutamatergic agonist kainic acid., [UniProtKB, PubMed, PubMed]; Kainate receptor subunit 1 (GRIK1) risk variants and GRIK1 deficiency were detected in the Indian ADHD probands. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 53, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q13001;Q86SU9", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0022849 glutamate-gated calcium ion channel activity;GO:0004970 glutamate-gated receptor activity;GO:0015277 kainate selective glutamate receptor activity;GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0042734 presynaptic membrane;GO:0032983 kainate selective glutamate receptor complex;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0007268 chemical synaptic transmission;GO:0035249 synaptic transmission, glutamatergic;GO:0007417 central nervous system development;GO:0050804 modulation of chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P39086-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43304-1", "uniprot_id": [ { "id": "GPDM_HUMAN", "url": "https://www.uniprot.org/uniprot/P43304", "type": "external" } ], "mass": 80853.0, "length": 727, "protein_name": "Glycerol-3-phosphate dehydrogenase, mitochondrial", "gene_name": "GPD2", "organism": "Human", "refseq_name": "glycerol-3-phosphate dehydrogenase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_000399", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000399", "type": "external" } ], "gene_names_uniprotkb": "GPD2", "gene_names_refseq": "GDH2; GPD2; GPDM; mGDH; mGPDH", "protein_names_uniprotkb": "Glycerol-3-phosphate dehydrogenase, mitochondrial; 1.1.5.3; GPD-M; GPDH-M; mGDH; mitochondrial glycerophosphate dehydrogenase gene; mtGPD", "protein_names_refseq": "GPD-M; GPDH-M; glycerol-3-phosphate dehydrogenase 2 (mitochondrial); glycerol-3-phosphate dehydrogenase, mitochondrial precursor; glycerol-3-phosphate dehydrogenase, mitochondrial; mitochondrial glycerophosphate dehydrogenase; mitohondrial glycerophosphate dehydrogenase; mtGPD; testicular tissue protein Li 76", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2820); (R-HSA-1483166); (R-HSA-163560)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10455175;10506173;10553003;10671541;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12832420;12963729;14573790;15364929;15367102;15456755;16460752;16495223;16620771;16704971;16741517;16864775;17028579;17170135;17603008;17707131;18238778;18718904;19181555;19336658;19666841;20705608;21173190;21504868;22424782;22777291;22922100;23176821;23176823;23301498;23481700;23807634;24715725;24966474;25418920;25576301;25645385;25892735;26154972;26375851;26711011;26768311;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;2925608;29351928;29393594;29557506;29632046;29632711;29786170;30315122;30429286;31154438;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33939274;33968037;33981976;34087483;34171305;34185709;34357683;34509645;3458202;34932366;35051231;35083852;35132862;35318648;35494241;35580925;35749365;36010968;36215666;36241641;36284347;36592694;37217939;38689091;40596516;7060561;7821823;8163052;8186247;8300559;8530346;8549872;8682323;8687421;9070847;9188469;9212163;9461603;9582313", "class_list": "", "function": "A ferroptosis defense mechanism mediated by glycerol-3-phosphate dehydrogenase 2 in mitochondria., [RefSeq, PubMed]; Calcium-responsive mitochondrial glycerol-3-phosphate dehydrogenase which seems to be a key component of the pancreatic beta-cell glucose-sensing device., [UniProtKB, PubMed]; GPD2: The relationship with cancer and neural stemness., [RefSeq, PubMed]; Glycerol 3-phosphate dehydrogenases (1 and 2) in cancer and other diseases. Review article, [RefSeq, PubMed]; MGPDH Deficiency leads to melanoma metastasis via induced NRF2., [RefSeq, PubMed]; The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[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": 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": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K4V0;B3KSA9;Q59FR1;Q9HAP9", "ec_number_list": [ { "id": "1.1.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.5.3", "type": "external" } ], "go_molecular_function": "GO:0004368 glycerol-3-phosphate dehydrogenase (quinone) activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0019563 glycerol catabolic process;GO:0006127 glycerol-3-phosphate shuttle;GO:0006072 glycerol-3-phosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "P43304-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92896-1", "uniprot_id": [ { "id": "GSLG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92896", "type": "external" } ], "mass": 134552.0, "length": 1179, "protein_name": "Golgi apparatus protein 1", "gene_name": "GLG1", "organism": "Human", "refseq_name": "Golgi apparatus protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001139138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139138", "type": "external" } ], "gene_names_uniprotkb": "GLG1; CFR1; ESL1; MG160", "gene_names_refseq": "CFR-1; ESL-1; GLG1; MG-160; MG160", "protein_names_uniprotkb": "Golgi apparatus protein 1; CFR-1; Cysteine-rich fibroblast growth factor receptor; E-selectin ligand 1; ESL-1; Golgi sialoglycoprotein MG-160", "protein_names_refseq": "E-selectin ligand 1; Golgi apparatus protein 1 isoform 2 precursor; cysteine-rich fibroblast growth factor receptor; golgi apparatus protein 1; golgi sialoglycoprotein MG-160", "tax_id": 9606, "disease": "", "pathway": " (hsa:2734); (R-HSA-202733)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12754519;12782713;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18691976;19279206;21193412;21654843;21659548;22021370;23090970;2355176;23584533;23945545;24043627;24190977;24764293;25301730;2538457;25418920;25502872;25548167;25576301;25813380;26154972;26375851;26792720;26992070;27159043;27862975;28063628;28218747;28228285;28467828;28832583;28904123;29242379;29314611;29317506;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29774024;29786170;29789417;30315122;30429286;30459171;30626607;31020640;31154438;31530632;31611695;31844290;31848261;32157095;32265295;32350084;32357974;32938616;32983136;33043033;33298915;33392160;33592498;33912179;33936100;33968037;34171305;34357683;34433824;34561969;34725712;34932366;35051231;35154160;35251023;35289036;35494241;35561310;35580925;36215666;36284347;37074911;37340703;38665916;40307207;40596516;40914422;468991;7509040;7521878;8163559;8166770;8314844;8985126;9052782;9169774;9182700;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Binds fibroblast growth factor and E-selectin (cell-adhesion lectin on endothelial cells mediating the binding of neutrophils)., [UniProtKB, PubMed]; Circulating prostate cancer cells' rolling capacity contributes to metastasis, and that is in part controlled by ESL-1., [RefSeq, PubMed]; Our results highlight the fact that interaction between APN and ESL-1 could provide a fundamental mechanism underlying the anti-atherogenic properties of APN., [RefSeq, PubMed]; Studies indicate that PSGL-1, CD44, and ESL-1 on mature leukocytes are physiologic glycoprotein ligands for endothelial P-selectin and E-selectin. Review article, [RefSeq, PubMed]; Study identifies NRP2 and ESL-1 as targets for polysialylation in murine microglia and human THP-1 macrophages and reveals a striking convergence in the regulation of the two polysialylated acceptors in the course of inflammatory activation. A pool of polysialylated NRP2 and ESL-1 is assembled after injury or in culture and its shedding is an early response to lipopolysaccharide-induced activation of microglia., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 10, "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 105, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B7Z8Y4;D3DUJ7;Q13221;Q6P9D1", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0017134 fibroblast growth factor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 27.1, "record_id": "Q92896-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7LDG7-1", "uniprot_id": [ { "id": "GRP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7LDG7", "type": "external" } ], "mass": 69248.0, "length": 609, "protein_name": "RAS guanyl-releasing protein 2", "gene_name": "RASGRP2", "organism": "Human", "refseq_name": "RAS guanyl-releasing protein 2 isoform a", "refseq_ac": [ { "id": "NP_001092140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092140", "type": "external" } ], "gene_names_uniprotkb": "RASGRP2; CDC25L; MCG7", "gene_names_refseq": "CALDAG-GEFI; CDC25L; RASGRP2", "protein_names_uniprotkb": "RAS guanyl-releasing protein 2; CalDAG-GEFI; Calcium and DAG-regulated guanine nucleotide exchange factor I; Cdc25-like protein; F25B3.3 kinase-like protein; hCDC25L", "protein_names_refseq": "F25B3.3 kinase-like protein; RAS guanyl nucleotide-releasing protein 2; RAS guanyl releasing protein 2 (calcium and DAG-regulated); RAS guanyl-releasing protein 2 isoform a; calcium and DAG-regulated guanine nucleotide exchange factor I; calcium and diacylglycerol-regulated guanine nucleotide exchange factor I; cdc25-like protein; guanine exchange factor MCG7", "tax_id": 9606, "disease": "leukocyte adhesion deficiency 3 (Disease Ontology:DOID:0110912); platelet-type bleeding disorder 18 (Disease Ontology:DOID:0111051)", "pathway": " (hsa:10235); (R-HSA-114508); (R-HSA-2871837); (R-HSA-354192); (R-HSA-392517)", "pathway_count": 5, "publication_count": 126, "publication_id_list": "10446041;10702308;10838074;10882101;10896934;10918068;10964917;11080611;11090634;11237011;11278453;11325957;11413485;11460167;11476890;11772397;11805119;11940607;12473184;14514672;14702343;14754902;14988412;15125833;15157149;15327770;15334074;15469846;15632203;16005629;16040750;16076873;16115959;16186825;16252004;16356853;16356856;16757337;16831874;16919435;16978534;17047224;17135271;17158449;17218263;1722201;17428801;17496917;17576779;17624957;17702895;17948050;18039662;18434644;18452278;1846040;18772140;19033211;19064721;19234460;19234463;20058876;20300203;20685844;2175712;21966355;22798961;23908768;24715725;24958846;25880248;26154972;26992070;27107697;27235135;27862975;28726538;28762304;28832583;28904123;28952923;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30429286;30524438;31844290;32157095;32265295;32350084;32387766;32502341;32897882;32983136;33091337;33123756;33141586;33392160;33691108;34357683;34509645;34830306;35051231;35122233;35251023;35580925;36241641;36817422;37914339;38253038;39260747;7513017;8253074;8631894;8755247;9115221;9341881;9346962;9351824;9601053;9789079;9930701", "class_list": "", "function": "CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a calcium- and DAG-regulated nucleotide exchange factor specifically activating Rap through the exchange of bound GDP for GTP. May also activate other GTPases such as RRAS, RRAS2, NRAS, KRAS but not HRAS. Functions in aggregation of platelets and adhesion of T-lymphocytes and neutrophils probably through inside-out integrin activation. May function in the muscarinic acetylcholine receptor M1/CHRM1 signaling pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NEDD4L-mediated RASGRP2 suppresses high-glucose and oxLDL-induced vascular endothelial cell dysfunctions by activating Rap1 and R-Ras., [RefSeq, PubMed]; Novel RASGRP2 variants in platelet function defects: Indian study., [RefSeq, PubMed]; RASGRP2 is a potential immune-related biomarker and regulates mitochondrial-dependent apoptosis in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]; [Study on the Role of RASGRP2 in 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": 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": 18, "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": "A6NDC7;O00538;Q9UL65", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0008289 lipid binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0019992 diacylglycerol binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0043005 neuron projection;GO:0032587 ruffle membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0043547 positive regulation of GTPase activity;GO:0071277 cellular response to calcium ion;GO:0007265 Ras protein signal transduction;GO:0001558 regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q7LDG7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYB4-1", "uniprot_id": [ { "id": "GNB1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYB4", "type": "external" } ], "mass": 35618.0, "length": 327, "protein_name": "Guanine nucleotide-binding protein subunit beta-like protein 1", "gene_name": "GNB1L", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein subunit beta-like protein 1", "refseq_ac": [ { "id": "NP_443730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443730", "type": "external" } ], "gene_names_uniprotkb": "GNB1L; FKSG1; GY2; KIAA1645; WDR14", "gene_names_refseq": "DGCRK3; FKSG1; GNB1L; GY2; WDR14; WDVCF", "protein_names_uniprotkb": "Guanine nucleotide-binding protein subunit beta-like protein 1; DGCRK3; G protein subunit beta-like protein 1; WD repeat-containing protein 14; WD40 repeat-containing protein deleted in VCFS; WDVCF", "protein_names_refseq": "G-protein beta subunit-like protein; WD repeat-containing protein 14; WD40 repeat-containing protein deleted in VCFS; g protein subunit beta-like protein 1; guanine nucleotide binding protein (G protein), beta polypeptide 1-like; guanine nucleotide binding protein beta-subunit-like polypeptide; guanine nucleotide-binding protein subunit beta-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54584)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11072084;11237011;11258795;11350118;16959974;18477386;20538345;20860462;23301498;23481700;24831436;26992070;28218747;29437277;29557506;30315122;30410026;30484775;31844290;32488085;33298915;33932639;34171305;35580925;36241641;37541219", "class_list": "", "function": "Acts as a critical regulator of DNA damage response (DDR) signaling via specifically regulating phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins., [UniProtKB, PubMed]; Beta-blocker therapy and heart rate control during exercise testing in the general population: role of GNB1L variant., [RefSeq, PubMed]; MRNA expression results implies that the GNB1L high-expression allele is the risk allele for schizophrenia and bipolar disorder in the Han Chinese population., [RefSeq, PubMed]; Sequencing of the coding regions of GNBIL on chromosome 22q11.2 as a risk gene of schizophrenia., [RefSeq, PubMed]; The results of this study suggested that GNB1L is linked with bipolar disorder and schizophrenia and not with major depressive disorder. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a G-protein beta-subunit-like polypeptide which is 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 protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 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": 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": "Q9H2S2;Q9H4M4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006974 DNA damage response;GO:0000077 DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9BYB4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true } ]